Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Gowers sign, Thoracic scoliosis, Tip-toe gait, Muscular dystrophy, Calf muscle pseudohypertrophy,... |
ORPHA:62 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Gowers sign, Lumbar hyperlordosis, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, L... |
OMIM:613818 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Distal Anoctaminopathy |
|
Progressive proximal muscle weakness, Calf muscle pseudohypertrophy, Distal amyotrophy, Progressi... |
ORPHA:399096 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy, Gait ataxia, Muscle weakness |
OMIM:253590 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Gowers sign, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy, Proximal muscle weakn... |
OMIM:613723 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Gowers sign, Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
Muscular dystrophy, limb-girdle, type 2R |
|
Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy |
OMIM:615325 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... |
ORPHA:267 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Increased endomysial connective tissue, Spinal rigidity, Flexion contracture, Muscular dystrophy,... |
OMIM:617072 |
Tubular Aggregate Myopathy |
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EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Posterior Column Ataxia |
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Impaired proprioception, Impaired vibratory sensation, Scoliosis, Ataxia |
OMIM:176250 |
Myopathy, Distal, With Rimmed Vacuoles |
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Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... |
ORPHA:603 |
Tibial Muscular Dystrophy |
|
Clumsiness, Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myop... |
ORPHA:609 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Beevor's sign, Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness... |
OMIM:158901 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
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Spinal rigidity, Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic gi... |
OMIM:608423 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Scapuloperoneal Myopathy, Myh7-Related |
|
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy |
OMIM:181430 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Muscular dystrophy, Limb-girdle muscl... |
OMIM:609308 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy, Muscle weakness |
OMIM:254100 |
Muscular Dystrophy, Scapulohumeral |
|
Muscle weakness, Scapulohumeral muscular dystrophy |
OMIM:600416 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait |
OMIM:600334 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Miyoshi Muscular Dystrophy 1 |
|
Tip-toe gait, Distal muscle weakness, Muscular dystrophy, Lower limb muscle weakness, Distal amyo... |
OMIM:254130 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... |
OMIM:616199 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers |
OMIM:159050 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Clumsiness, Joint contracture of ... |
ORPHA:399086 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Intrinsic hand muscle atrophy, Progressive proximal muscle weakness, Limb-girdle muscle weakness,... |
ORPHA:98912 |
Laing Early-Onset Distal Myopathy |
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Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... |
ORPHA:59135 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Gowers sign, Calf muscle hypertrophy, Muscular dystrophy, Difficulty walking, Proximal muscle wea... |
OMIM:601287 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... |
OMIM:609456 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
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Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
Distal Nebulin Myopathy |
|
Slender build, Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:399103 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... |
OMIM:618655 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Foot dorsiflexor weakness, Distal sensory impairment, Difficulty walking, Pr... |
OMIM:617087 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... |
ORPHA:399058 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
Vacuolar Neuromyopathy |
|
Distal muscle weakness, Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Neck flex... |
OMIM:601846 |
Central Core Disease Of Muscle |
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Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Myopathy, Distal, 3 |
|
Clumsiness, Joint contracture of the hand, Late-onset proximal muscle weakness, EMG: myopathic ab... |
OMIM:610099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Loss of ambulation, Distal upper limb muscle weakness, Spinal rigidity, Skeletal muscle hypertrop... |
OMIM:619566 |
Rigid Spine Muscular Dystrophy 1 |
|
Failure to thrive, Loss of ambulation, Increased endomysial connective tissue, Decreased body wei... |
OMIM:602771 |
Desminopathy |
|
Loss of ambulation, Spinal rigidity, Weakness of facial musculature, Thoracic kyphoscoliosis, Nec... |
ORPHA:98909 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Clumsiness, Flexion contracture, Muscular dystrophy, Scapular winging, Myositis, Lower limb muscl... |
OMIM:253600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Distal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weaknes... |
OMIM:608807 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Distal Myopathy With Anterior Tibial Onset |
|
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... |
ORPHA:178400 |
Myopathy, Myofibrillar, 2 |
|
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... |
OMIM:608810 |
Muscular Dystrophy, Congenital, 1B |
|
Gowers sign, Generalized muscle hypertrophy, Pectoralis amyotrophy, Spinal rigidity, Diaphragmati... |
OMIM:604801 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Scoliosis, Gait disturbance, Elbow flexion contracture, Muscle weakness |
OMIM:616516 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w... |
OMIM:611307 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Failure to thrive, Respiratory insufficiency due to muscle weakness, Spinal rigidity, Flexion con... |
OMIM:613205 |
Episodic Ataxia, Type 7 |
|
Muscle weakness, Episodic ataxia |
OMIM:611907 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Nemaline Myopathy 7 |
|
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Genu recurvatum, Weakness of facial muscul... |
OMIM:610687 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... |
ORPHA:178464 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Increased variability in muscle ... |
OMIM:300718 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... |
OMIM:253601 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
Multiminicore Myopathy |
|
Failure to thrive, Respiratory insufficiency due to muscle weakness, Abnormal muscle fiber morpho... |
ORPHA:598 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive proximal muscle weakness, EMG: myopathic abnormalities, ... |
ORPHA:98911 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Gowers sign, Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Calf muscle hypertrophy, L... |
ORPHA:86812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Gowers sign, Loss of ambulation, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic... |
OMIM:603511 |
Duchenne Muscular Dystrophy |
|
Flexion contracture, Calf muscle hypertrophy, Scoliosis, Progressive muscle weakness, Waddling ga... |
ORPHA:98896 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating motor neuropathy, Lower limb muscle weakness, Demyelinating sensory neuropathy, Pro... |
ORPHA:208981 |
Miyoshi Muscular Dystrophy 3 |
|
Distal muscle weakness, Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy |
OMIM:613319 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Muscle weakness, Pro... |
OMIM:613530 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Inability to walk, Reduced vital capacity, Limited knee f... |
ORPHA:266 |
Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... |
ORPHA:98902 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy |
OMIM:612998 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Scoliosis, Congenital muscular dystrophy, Fatty r... |
OMIM:613204 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis, Distal amyotrophy |
OMIM:158580 |
Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Reduced vital capacity, Flexion contracture, Ty... |
OMIM:609285 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
Myopathy, Myofibrillar, 4 |
|
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... |
OMIM:609452 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... |
OMIM:500002 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... |
OMIM:160150 |
Myofibrillar Myopathy 11 |
|
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... |
OMIM:619178 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Babinski sign, Scoliosis, Lower limb muscle weakness, Spastic paraplegia, Gait disturba... |
OMIM:611225 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... |
OMIM:300695 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Progressive... |
OMIM:605355 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... |
OMIM:618484 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Loss of ambulation, Lumbar hyperlordosis, Back pain, Pelvic girdle muscle atrophy, Progressive pr... |
OMIM:167320 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... |
ORPHA:276435 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal muscle weakness, Increased variability in muscle fi... |
OMIM:619042 |
Acid Phosphatase Deficiency |
|
Generalized hypotonia, Opisthotonus, Hypotonia |
OMIM:200950 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Weakness of long finger extensor muscles, Fasc... |
ORPHA:641 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Distal muscle weakness, Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles... |
OMIM:158590 |
Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... |
ORPHA:610 |
Marinesco-Sjogren Syndrome |
|
Failure to thrive, Kyphosis, Ataxia, Flexion contracture, Limb ataxia, Rimmed vacuoles, Scoliosis... |
OMIM:248800 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Gowers sign, Muscular dystrophy, Congenital muscular dystrophy, Muscle weakness, Waddling gait, F... |
OMIM:602541 |
Myopathy And Diabetes Mellitus |
|
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Progressive proximal muscle weakn... |
ORPHA:2596 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Respiratory insufficiency due to muscle weakness, Gowers sign, Flexion contracture, EMG... |
OMIM:255200 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging |
OMIM:310095 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Gowers sign, Increased endomysial connective tissue, Loss of ambulation, F... |
OMIM:253700 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy, Muscle weakness, Gowers sign |
OMIM:616094 |
Nemaline Myopathy 2 |
|
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... |
OMIM:256030 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Increased endomysial connective tissue, Limitation of movement at ankles, Scapular winging, Incre... |
ORPHA:437572 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:208100 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Ataxia, Kyphoscoliosis, Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory ... |
ORPHA:459033 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis, Gait disturbance, Abdominal wall muscle weakness, Muscle fiber splittin... |
OMIM:618129 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Failure to thrive, Lumbar hyperlordosis, Type 1 fibers relatively smaller than type 2 fibers, Fac... |
OMIM:255310 |
Myopathy, Myofibrillar, 6 |
|
Spinal rigidity, EMG: myopathic abnormalities, Muscular dystrophy, Scoliosis, Myofibrillar myopat... |
OMIM:612954 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Spinal rigidity, Muscular dystrophy, Scoliosis, Neck muscle weakness, Centrally nucleated skeleta... |
OMIM:617066 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Ataxia, Limb ataxia, Ankle clonus, Babinski sign, Scoliosis, Lower limb muscle weakness, Gait ata... |
ORPHA:488594 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Myoclonus, Ragged-red muscle fibers, Spasticity, Myopathy |
OMIM:545000 |
Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
Merrf |
|
Ragged-red muscle fibers, Ataxia, Myopathy, Short stature |
ORPHA:551 |
X-Linked Complicated Spastic Paraplegia Type 1 |
|
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction, Lower limb muscle weakness |
ORPHA:306617 |
Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... |
ORPHA:401768 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... |
ORPHA:1878 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Calf muscle hypertrophy, Rimmed vacuoles, Distal muscle weakness, Scoliosis, Hyperlordosis, Waddl... |
OMIM:617760 |
Oculopharyngodistal Myopathy |
|
Weakness of facial musculature, Difficulty walking, Distal lower limb amyotrophy, Fatigable weakn... |
ORPHA:98897 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Distal sensory impairment, Foot dorsiflexor weakness, Spinal muscular atrophy, Gait disturbance, ... |
OMIM:614881 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Gowers sign, Lumbar hyperlordosis, Calf muscle hypertrop... |
ORPHA:280333 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Loss of ambulation, Skeletal muscle autophagosome accumulation, Rimmed vacuole... |
OMIM:619518 |
Myositis |
|
Myositis, Proximal muscle weakness |
OMIM:160750 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Babi... |
ORPHA:263494 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... |
OMIM:601098 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Flexion contracture, Cachexia, Respiratory insufficiency, Joint hyperflexibility... |
ORPHA:157973 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Tip-toe gait, EMG: myop... |
ORPHA:370980 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Onion bulb formation, Distal amyotrophy, Spastic paraplegia, Demy... |
OMIM:182815 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Opisthotonus, Parkinsonism, Apraxia, Choreoathetosis, Spasticity, Distal upper limb amyotrophy, S... |
OMIM:619653 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy, Generalized muscle weakness |
OMIM:613152 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis, Increased endomysial connective tissue, Flexion contracture, Congenital muscular ... |
OMIM:607855 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Spinal muscular atrophy, Distal amyotrophy, Tremor, Fasciculations, Proximal ... |
OMIM:182980 |
Episodic Ataxia, Type 8 |
|
Ataxia, Intention tremor, Muscle weakness, Slurred speech, Episodic ataxia |
OMIM:616055 |
Bethlem Myopathy 2 |
|
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Muscle ... |
OMIM:616471 |
Klhl9-Related Early-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Loss of ambulation, Abnormality o... |
ORPHA:399081 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... |
OMIM:615422 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... |
OMIM:619477 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis, Ataxia, Distal amyotrophy, Tremor |
OMIM:619099 |
Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Lumbar hyperlordosis, Proximal muscle weakness, Tip-toe gait, To... |
OMIM:160500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... |
OMIM:608099 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Foot dorsiflexor weakness, Vestibular schwannoma, Decreased compound muscle action potential ampl... |
OMIM:613641 |
Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... |
ORPHA:90103 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Proximal muscle weakness, Back pain, Spinal rigidity, Skeletal muscle hyp... |
OMIM:300696 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Sensorineural hearing impairment, Distal muscle weakness, Decreased motor nerve conduction veloci... |
OMIM:613287 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Chorea, Hyperlordosis, Difficulty walki... |
ORPHA:369840 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Foot dorsiflexor weakness... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Kyphoscoliosis, First dorsal interossei muscle weakness, Distal mu... |
OMIM:619574 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle weakness, Distal muscle weakness, First dorsal interossei muscle a... |
OMIM:601472 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Pleoconial Myopathy With Salt Craving |
|
Paralysis, Myopathy, Proximal amyotrophy |
OMIM:262900 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... |
OMIM:613157 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Ataxia, Babinski sign, Hand muscle atrophy, Spasticity of facial muscles, Spasticity, Distal lowe... |
OMIM:205100 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Wa... |
OMIM:612937 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Ataxia, Distal muscle weakness, Scoliosis, Gait disturbance, Tremor, Impaired pain sens... |
ORPHA:101078 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Scoliosis, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Oculogyric crisis, Rigidity, Hyperkine... |
ORPHA:13 |
Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Waddling gait, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy |
OMIM:182920 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Poor head control, Spinal rigidity, EMG: myopathic abnormalities, Mi... |
ORPHA:486815 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Progressive external ophthalmoplegia, Ragged-red muscle fibers, ... |
OMIM:613662 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking |
OMIM:619024 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal muscle weakness, Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular ... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Flexion contr... |
OMIM:609260 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Distal muscle weakness, Scoliosis, Muscle fiber inclusion bodies, Waddling gait, Proximal muscle ... |
OMIM:605637 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Proximal muscle weakness, Skeletal muscle hypertrophy |
OMIM:613158 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic ... |
OMIM:606612 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Rimmed vacuoles, Increased variability in muscle fiber diameter, Lo... |
OMIM:616924 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Distal muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Di... |
OMIM:607641 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Upper limb muscle weakness, Axonal degeneration... |
OMIM:607791 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Myopathy |
OMIM:255140 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles of the big toe |
OMIM:608634 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Ataxia, Inability to walk, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Muscle we... |
OMIM:615350 |
Bethlem Myopathy 1 |
|
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... |
OMIM:158810 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Increased variability in muscle fiber diameter, Distal joint laxity, Slender build, Muscle fiber ... |
OMIM:254090 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Foot dorsifle... |
OMIM:608340 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Distal sensory i... |
OMIM:616040 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Amyotrophic Lateral Sclerosis 8 |
|
Loss of ambulation, Distal muscle weakness, Abnormal pyramidal sign, Fasciculations, Distal amyot... |
OMIM:608627 |
Dystonia 6, Torsion |
|
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Rigidity, Flexion contracture |
OMIM:613869 |
Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... |
ORPHA:97240 |
Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
Myasthenic Syndrome, Congenital, 14 |
|
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Scoliosis, Fatigable weakness, Hyp... |
OMIM:616228 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Foot dorsiflexor weakness |
OMIM:616039 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Foot dorsifl... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Onion bulb formation, Decreased mot... |
OMIM:607706 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Gowers sign, Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Hyperlordosis |
OMIM:611588 |
Roussy-Lévy Syndrome |
|
Intrinsic hand muscle atrophy, Kyphoscoliosis, Limb ataxia, Scoliosis, Lower limb muscle weakness... |
ORPHA:3115 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peroneal muscle weakness, Hand muscle weakness, Intrinsic hand muscle atrophy, Chronic axonal neu... |
ORPHA:101097 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Distal upper limb muscle weakness, Impaired vibratory sensation, Proximal muscle weakness in lowe... |
OMIM:618912 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Axonal degene... |
OMIM:607677 |
Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Spinal muscular atrophy, Tremor, Difficulty walking, Fasciculations, Ske... |
OMIM:615048 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Loss of ambulation, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:616812 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Gowers sign, Left ventricular hypertrophy, Facial palsy, Scapul... |
ORPHA:169186 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Gait disturbance, Cubitus valgus, Joint hyperflexibility |
ORPHA:1875 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Skeletal muscle atrophy, Opisthotonus, Axial hypotonia |
OMIM:616896 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Proximal muscle weakness, Thoracic scoliosis, Loss of ambulation, EMG: myopathic abnormalities, C... |
OMIM:255160 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Limb... |
ORPHA:497764 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Failure to thrive, Respiratory insufficiency due to muscle weakness,... |
ORPHA:424107 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Foot dorsiflexor wea... |
OMIM:607731 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... |
ORPHA:663 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Leukodystrophy, Hypomyelinating, 13 |
|
Hypertonia, Ataxia, Failure to thrive, Delayed myelination, Flexion contracture, Leukodystrophy, ... |
OMIM:616881 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Abnormal myelination, Progressive spastic paraplegia, Spastic gait, L... |
ORPHA:401840 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... |
OMIM:615575 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Tetraparesis, Muscl... |
OMIM:616827 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Broad-based gait, Gowers sign, Increased endomysial connective tissue, Lumbar hyperlordosis, Macr... |
ORPHA:353 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in l... |
OMIM:618138 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Kyphoscoliosis, Tip-toe gait, Lower limb amyotrophy, Knee flexion contracture, Upper limb amyotro... |
ORPHA:496689 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Failure to thrive, Kyphoscoliosis, Small for gestational age, Arthrogryposis multiplex congenita,... |
OMIM:212540 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Muscle weakness, Calf muscle pseudohypertrophy |
OMIM:300376 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency due to muscle weakness, Bulbar palsy, Progressive proximal muscle weakn... |
ORPHA:254875 |
Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Park... |
OMIM:617013 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Cachexia, Distal amyotrophy |
ORPHA:1216 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter, Congenital m... |
OMIM:616470 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment, Diabetes mellitus |
OMIM:172500 |
Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Distal amyotrophy, Leg muscle stiffness, Somati... |
ORPHA:101010 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Babinski sign, Lower limb spasticity, Bulbar palsy, Achi... |
OMIM:615290 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased sensory nerve conduction velocity, Distal muscle weakness, Decreased motor nerve conduc... |
OMIM:608323 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy |
OMIM:612999 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Ataxia, Inability to walk, Poor eye contact, Type 1 muscle fiber predominance,... |
OMIM:618276 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
King-Denborough Syndrome |
|
Failure to thrive, Kyphoscoliosis, Muscle fiber atrophy, Lumbar hyperlordosis, Weakness of facial... |
OMIM:619542 |
Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Lower... |
OMIM:619216 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Small thenar eminence, Onion bulb formation, Decreased motor nerve co... |
OMIM:609311 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Hand muscle weakness, Decreased motor nerve con... |
OMIM:162500 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Impaired vibration sensati... |
ORPHA:352675 |
Nemaline Myopathy 3 |
|
Slender build, Nemaline bodies, Hypertonia, Spinal rigidity, EMG: myopathic abnormalities, Scolio... |
OMIM:161800 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Flexion contracture, Babinski sign, Tremor, Muscle weakness, Spasticity, Skeletal muscle ... |
OMIM:611105 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Abnormality of the calf musculature, Demyelinating motor neuropathy, Decr... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Skeletal muscle atrophy, Dystonia, Peripheral demyelination, Axonal loss |
OMIM:616684 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Gowers sign, Decreased cervical spine flexion due to contractures of posterior cervical muscles, ... |
ORPHA:254361 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Ataxia, Lower-limb joint contracture, Inability to walk, Upper-limb joint contracture, Chorea, Ne... |
ORPHA:300605 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy |
OMIM:614302 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Increased variability in muscle fiber diameter, Difficulty walking, Limb muscle ... |
ORPHA:171439 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Generalized ... |
ORPHA:2589 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Distal muscle weakness, Scoliosis, Hy... |
OMIM:600175 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Short stature, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diamete... |
OMIM:619065 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Weakness of facial musculature, Increased variability in muscle fibe... |
ORPHA:536516 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Dist... |
OMIM:605253 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Difficulty walking, Spasticity, Growth delay, Myopathy |
OMIM:618242 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Ataxia, Myopathy |
ORPHA:2579 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Distal upper limb amyotrophy, Distal lower... |
ORPHA:101075 |
Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Gowers sign, Spinal rigidity, Scapular winging, Scoliosis, Joint contracture of ... |
OMIM:617258 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Abnormal myelination, Progressive spastic paraplegia, Limb tremor, Spastic gait, L... |
ORPHA:401820 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Rhabdomyolysis, Delayed myelination |
OMIM:618331 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Distal muscle weakness, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Dis... |
OMIM:302801 |
Central Core Disease |
|
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Kyphoscolios... |
ORPHA:597 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Kyphosis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal m... |
ORPHA:75840 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Macroglossia, Tip-toe gait, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle m... |
OMIM:607155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Short stature, EMG: myo... |
OMIM:608840 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Respiratory distress, Inability to walk, Weakness of facial musc... |
ORPHA:596 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Proximal muscle wea... |
OMIM:615352 |
Focal Myositis |
|
Muscle weakness, Myositis |
ORPHA:48918 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Distal upper limb muscle weakness, Decreased nerve conduction velocity, Abolished vibration sense... |
ORPHA:435387 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Ankle flexion contracture, Kyphoscoliosis, Foot dorsiflexor weakness |
OMIM:616668 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Lower limb muscle weakness |
ORPHA:209004 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Gowers sign, Lumbar hyperlordosis, Poor head control, Flexion contracture, Distal muscle weakness... |
ORPHA:353327 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Sternocleidoma... |
ORPHA:98905 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Ragged-red muscle fibers, Difficult... |
OMIM:500003 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... |
OMIM:605588 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... |
ORPHA:171442 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy |
OMIM:607091 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Babinski sign, Abnormality of peripheral nerve conduction, Spastic paraplegia, Optic atrophy, Spa... |
ORPHA:431329 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Decreased body weight, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Spasticit... |
OMIM:617672 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, Failure to thrive, Poor head control, Diaphragmatic weakness, EMG: myopath... |
OMIM:614399 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Ankle clonus, Increased variability in muscle fiber diam... |
OMIM:613954 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... |
ORPHA:2932 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... |
OMIM:607483 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Weakness of facial musculature, Increased variability in muscle fiber diameter, Babinski ... |
OMIM:607459 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... |
ORPHA:178145 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Facial palsy, Myopathy |
OMIM:253320 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Kyphosis, Ataxia, Skeletal muscle hypertrophy, Scoliosis, Gait disturbance, Tremor, ... |
ORPHA:99014 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, Parkinsonism with favorable response to dopaminergic medication, Bradykine... |
OMIM:157640 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Oculopharyngodistal Myopathy 3 |
|
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... |
OMIM:619473 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Loss of ambulation, Flexion contracture, Tip-toe gait, Hypoventilation, C... |
OMIM:310200 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... |
DECIPHER:29 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis |
ORPHA:565899 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Tetraplegia, Ragged-red muscle fibers, Involuntary movements, Muscle weakness, Tongue fasciculati... |
OMIM:300816 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Poor head control, Spinal r... |
ORPHA:324604 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Ataxia, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination |
OMIM:165200 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Distal muscle ... |
OMIM:601596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypertonia, Poor head control, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Musc... |
OMIM:615351 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy |
OMIM:615041 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Distal muscle weakness, Scoliosis, Foot dorsiflexor weakness, Distal amyotrophy, Dis... |
OMIM:302802 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Skin rash, Proximal muscle weakness in lower limbs, EMG: myopathic abnorma... |
ORPHA:206569 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Proximal muscle weakness, Flexion contracture, EMG: myopathic a... |
OMIM:609284 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, M... |
ORPHA:101082 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Spontaneous pain sensation, Kyphoscoliosis, Diaphragmatic weakness, Sensory ataxi... |
ORPHA:101081 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Beevor's sign, Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Shou... |
OMIM:158900 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia, Distal amyotrophy |
ORPHA:639 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral dem... |
ORPHA:99944 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis, Myopathy |
OMIM:613345 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Limb fasciculations, Lower limb muscle weakness, Distal lower limb amyotrophy, Upper limb amyotro... |
ORPHA:99940 |
Spinal Muscular Atrophy, Type Iii |
|
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Limb fa... |
OMIM:253400 |
Charcot-Marie-Tooth Disease And Deafness |
|
Sensorineural hearing impairment, Distal muscle weakness, Decreased motor nerve conduction veloci... |
OMIM:118300 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Snijders Blok-Fisher Syndrome |
|
Opisthotonus, Generalized hypotonia, Choreoathetosis, Spasticity, Facial hypotonia |
OMIM:618604 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... |
OMIM:600791 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:397946 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Ataxia, Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sensory impairm... |
OMIM:616688 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Hamstring contractures, Failure to thrive, Kyphoscoliosis, Elbow ankylosis, Short neck, Abnormal ... |
ORPHA:96183 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Distal muscle weakness, Peripher... |
OMIM:610100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Inability to walk, Macroglossia, Flexion contracture, Muscular dystrophy, Congenital muscular dys... |
OMIM:613155 |
Developmental And Epileptic Encephalopathy 101 |
|
Opisthotonus, Myoclonus, Hypotonia, Limb joint contracture, Axial hypotonia |
OMIM:619814 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... |
OMIM:606777 |
Null Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Progressive spa... |
ORPHA:280234 |
Hereditary Motor And Sensory Neuropathy V |
|
Distal muscle weakness, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, ... |
OMIM:600361 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Lumbar hyperlordosis, Abnormality of the shoulder girdle musculature, Thoracic scoliosis, Inabili... |
ORPHA:206546 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis, Inability to walk, Flexion contracture |
OMIM:617977 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Ataxia, Dysmetria, Babinski sign, Scoliosis, Lower limb muscle weakness, Distal sensory impairmen... |
OMIM:616907 |
Atypical Rett Syndrome |
|
Kyphosis, Loss of ambulation, Inability to walk, Episodic tachypnea, Poor eye contact, Pill-rolli... |
ORPHA:3095 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Distal amyotrophy, Frequent falls... |
OMIM:607317 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand muscle weakness, Dysmetria, Hand tremor, Axonal degeneration, Onion bulb format... |
OMIM:302800 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, Atlantoaxial abnormality, Hypermobility of interphalangeal joints, Shuffling gait... |
ORPHA:3433 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Poor head control, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... |
OMIM:618184 |
Anal Sphincter Myopathy, Internal |
|
Myopathy |
OMIM:105565 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... |
ORPHA:99953 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Lumbar hyperlordosis, Muscular dystrophy, Lower limb muscle weakness, Muscle w... |
OMIM:615980 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal muscle weakness, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy, Distal amy... |
OMIM:311070 |
Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Spinal rigidity, Short stature, Distal muscle weakness, Thoracolumbar scoli... |
OMIM:255600 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Facial palsy, Myofibrillar myopathy, Flexion contracture |
OMIM:615348 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:604187 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Hyperkinetic movements, Scoliosis, Truncal ataxia, Chorea, ... |
ORPHA:369847 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis, Flexion contracture |
OMIM:168400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations, Skeletal muscle atrophy |
ORPHA:85162 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Flexion contracture |
OMIM:618323 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Peripheral demyelination, Foot dorsiflexor weakness, Distal amy... |
OMIM:607736 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Cerebral hypomyelination... |
OMIM:601170 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... |
OMIM:615542 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Joint contracture of the hand, Distal amyotrophy, Optic atrophy, Gait ataxia, Distal upper limb a... |
OMIM:258650 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Abnormal motor evoked potentials, Decreased nerve conduction velocity, Distal muscle weakness, Pe... |
ORPHA:99939 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal muscle weakness, Skeletal muscle atrophy, Paralysis, Muscle weakness |
OMIM:613710 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Mitochondrial Myopathy, Infantile, Transient |
|
Failure to thrive, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Inc... |
OMIM:500009 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Gait ataxia, Spasticity |
OMIM:610743 |
Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Cednik Syndrome |
|
Sensorineural hearing impairment, Ataxia, Poor head control, Dolichocephaly, Microcephaly, Optic ... |
ORPHA:66631 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy, Severe short stature |
OMIM:204730 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Sensory ataxia, EMG: myopathic abnormalities, Parkinsonism, Progressive external ophthalmoplegia,... |
OMIM:609286 |
Charcot-Marie-Tooth Disease Type 4D |
|
Sensorineural hearing impairment, Distal upper limb muscle weakness, Distal muscle weakness, Decr... |
ORPHA:99950 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Distal muscle weakness, Decreased m... |
OMIM:615376 |
Cataract-Ataxia-Deafness Syndrome |
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Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Adult onset sensor... |
ORPHA:1368 |
Amyotrophic Lateral Sclerosis 21 |
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Hand muscle weakness, Distal muscle weakness, Rimmed vacuoles, Increased variability in muscle fi... |
OMIM:606070 |
Lymphoid System Deterioration, Progressive |
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Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Myopathy, Myofibrillar, 7 |
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Multiple joint contractures, Nemaline bodies, Lumbar hyperlordosis, Spinal rigidity, Flexion cont... |
OMIM:617114 |
Spinal Muscular Atrophy, Ryukyuan Type |
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Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
Reticular Dysgenesis |
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Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Developmental And Epileptic Encephalopathy 41 |
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Lethargy, Kyphoscoliosis, Inability to walk, Flexion contracture |
OMIM:617105 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
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Failure to thrive, Flexion contracture, Optic atrophy, Spastic tetraplegia, CNS demyelination, Dy... |
OMIM:618237 |
Congenital Muscular Dystrophy, Fukuyama Type |
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Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... |
ORPHA:272 |
Spermatogenic Failure 41 |
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Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
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Distal muscle weakness, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Fo... |
OMIM:607678 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Stiff-Person Syndrome |
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Exaggerated startle response, Opisthotonus, Asymmetric limb muscle stiffness, Rigidity, Myoclonic... |
OMIM:184850 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
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Progressive muscle weakness, Failure to thrive, Respiratory insufficiency due to muscle weakness,... |
OMIM:613561 |
Spermatogenic Failure 10 |
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Infertility, Abnormal sperm morphology |
OMIM:614822 |
Methionine Adenosyltransferase I/Iii Deficiency |
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Dystonia, Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Spermatogenic Failure 36 |
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Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Myasthenic Syndrome, Congenital, 5 |
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Type 2 muscle fiber atrophy, Limb muscle weakness, Decreased muscle mass, Myopathy |
OMIM:603034 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Charcot-Marie-Tooth Disease Type 4A |
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Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Distal Hereditary Motor Neuropathy Type 5 |
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First dorsal interossei muscle weakness, Impaired vibratory sensation, Abnormal motor nerve condu... |
ORPHA:139536 |
Hereditary Continuous Muscle Fiber Activity |
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Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Spastic gait, Slurred ... |
ORPHA:972 |
Mitochondrial Myopathy, Lethal, Infantile |
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Myopathy |
OMIM:551000 |
Charcot-Marie-Tooth Disease, Type 4B2 |
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Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
Richieri Costa-Da Silva Syndrome |
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Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Skeletal muscle hypertrophy, Asym... |
ORPHA:3101 |
Riboflavin Transporter Deficiency |
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Ataxia, Cachexia, Myoclonus, Tremor, Limb muscle weakness, Muscle weakness, Facial palsy, Skeleta... |
ORPHA:97229 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
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Necrotizing myopathy |
OMIM:225740 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Broad-based gait, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic... |
ORPHA:119 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
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Peripheral axonal atrophy, Distal muscle weakness, Decreased motor nerve conduction velocity, Foo... |
OMIM:600882 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
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Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atr... |
OMIM:619903 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Apnea, Kyphoscoliosis, Ataxia, Bradykinesia, Flexion contracture, Resting tremor, Short neck, Sco... |
OMIM:300055 |
Neutral Lipid Storage Disease With Myopathy |
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Short stature, Increased muscle lipid content, Difficulty walking, Fasciculations, Myopathy |
OMIM:610717 |
Spastic Paraplegia 20, Autosomal Recessive |
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Kyphoscoliosis, Flexion contracture, Dysmetria, Ankle clonus, Lower limb muscle weakness, Camptod... |
OMIM:275900 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
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Myopathy |
ORPHA:50817 |
Spastic Ataxia 2, Autosomal Recessive |
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Dysmetria, Babinski sign, Head titubation, Distal amyotrophy, Tremor, Frequent falls, Gait ataxia... |
OMIM:611302 |
X-Linked Progressive Cerebellar Ataxia |
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Clumsiness, Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Intention tremor, Dysdiadochok... |
ORPHA:1175 |
Immunodeficiency 14A, Autosomal Dominant |
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Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
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Failure to thrive, Small for gestational age, Diaphragmatic eventration, Camptodactyly of finger,... |
OMIM:604320 |
Myopathy, Tubular Aggregate, 2 |
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Spinal rigidity, Flexion contracture, Foot dorsiflexor weakness, Falls, Muscle weakness, Proximal... |
OMIM:615883 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Ga... |
ORPHA:95433 |
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