| Myopathy, Distal, 5 |
|
Muscle fiber splitting, Distal upper limb muscle weakness, Mildly elevated creatine kinase, Weakn... |
OMIM:617030 |
| Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Elevated ci... |
OMIM:616199 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber splitting, Proximal muscle weakness, Calf muscle hypertrophy, Internally nucleated s... |
ORPHA:178464 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Neck flexor weakness, Elevated circulating creatine kinase concentration, Decreased activity of m... |
OMIM:616209 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Proximal muscle weakness, C... |
OMIM:254110 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Eleva... |
OMIM:615424 |
| Inclusion Body Myositis |
|
Proximal muscle weakness, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Elevated ci... |
ORPHA:611 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... |
OMIM:608423 |
| Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Elevated circulati... |
OMIM:605820 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
| Myopathy, Myofibrillar, 3 |
|
Proximal muscle weakness, Achilles tendon contracture, Progressive distal muscle weakness, Elevat... |
OMIM:609200 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Neck flexor weakness, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... |
ORPHA:457050 |
| Vacuolar Neuromyopathy |
|
Muscle fiber splitting, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Muscula... |
OMIM:601846 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Generalized muscle weakness, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Sc... |
OMIM:608358 |
| Nemaline Myopathy 6 |
|
Neck flexor weakness, Elevated circulating creatine kinase concentration, Nemaline bodies, Myopat... |
OMIM:609273 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
| Distal Myopathy, Welander Type |
|
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Clumsiness, EMG: myo... |
ORPHA:603 |
| Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Fatig... |
ORPHA:2593 |
| Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Centrally nucleated skeleta... |
OMIM:614321 |
| Mitochondrial Myopathy With Diabetes |
|
Proximal muscle weakness, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Rag... |
OMIM:500002 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... |
OMIM:613530 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Fatty replacement of s... |
ORPHA:266 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Respiratory failure, Proxima... |
OMIM:300717 |
| Nemaline Myopathy 7 |
|
Knee flexion contracture, Fatty replacement of skeletal muscle, Gowers sign, Lumbar hyperlordosis... |
OMIM:610687 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Proximal muscle weakness, Elevated circulating creatine kinase concentrat... |
OMIM:609524 |
| Myopathy, Centronuclear, 4 |
|
Abnormal circulating creatine kinase concentration, Muscle weakness, Centrally nucleated skeletal... |
OMIM:614807 |
| Carnitine Deficiency, Myopathic |
|
Decreased plasma carnitine, Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Proximal muscle weakness, Autop... |
OMIM:618655 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles, Mildly elevated creatine kinase |
OMIM:604454 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Extern... |
OMIM:160150 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Distal upper limb muscle weakness, Fatty replacem... |
OMIM:301075 |
| Bethlem Myopathy 1 |
|
Camptodactyly of finger, Limb-girdle muscle weakness, Proximal muscle weakness, Torticollis, Elbo... |
OMIM:158810 |
| Myopathy, Distal, 4 |
|
Proximal muscle weakness, Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of th... |
OMIM:614065 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Inclusion Body Myositis |
|
Proximal muscle weakness, Inflammatory myopathy, Distal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Hip contracture, Lower... |
OMIM:619042 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Hyperlordosis, Increased variability in muscle fiber diameter, Muscle fiber splitting, Centrally ... |
OMIM:617760 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
OMIM:612999 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ky... |
OMIM:616471 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Proximal muscle weakness, Multiple joint contractures, Rhabdomyolysis, Ophthalmoplegia, Fatigable... |
ORPHA:424107 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:397744 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Hyperlordosis, Flexion contracture, Proximal musc... |
OMIM:300718 |
| Multiminicore Myopathy |
|
Respiratory insufficiency, External ophthalmoplegia, Spinal rigidity, Abnormal muscle fiber morph... |
ORPHA:598 |
| Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
OMIM:271150 |
| Distal Myopathy With Anterior Tibial Onset |
|
Tibialis muscle weakness, Abnormal circulating creatine kinase concentration, Limb-girdle muscle ... |
ORPHA:178400 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proxim... |
OMIM:158600 |
| Rigid Spine Syndrome |
|
Respiratory insufficiency, Hyperlordosis, Hip contracture, Gowers sign, Spinal rigidity, Elbow fl... |
ORPHA:97244 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
OMIM:618848 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Centrally nucleated ... |
OMIM:117000 |
| Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op... |
OMIM:618940 |
| Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Proximal muscle weakness, Centr... |
OMIM:619178 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... |
OMIM:605637 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Flexion contracture, Proximal muscle weakness, Inability to walk, Nemalin... |
OMIM:256030 |
| Zebra Body Myopathy |
|
Muscle fiber splitting, Proximal muscle weakness, Autophagic vacuoles, Gowers sign, Torticollis, ... |
ORPHA:97240 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Myopathy, Centra... |
OMIM:618992 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Centrally nucleated ... |
OMIM:611705 |
| Myopathy, spheroid body |
|
Neck flexor weakness, Proximal muscle weakness, Muscle weakness, Distal muscle weakness, Tremor, ... |
OMIM:182920 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Elevated circulating creatine kinase concentration, Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Distal muscle weakness, Fiber type grouping, Mildly elevated creatine kinase |
OMIM:614369 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Proximal muscle weakness, Elevated circulating creatine kinase concentration |
OMIM:606768 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Back pain, Proximal mu... |
OMIM:300696 |
| Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Wrist drop, Centrally nucle... |
OMIM:616852 |
| Scapuloperoneal myopathy, myh7-related |
|
Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities |
OMIM:181430 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Neck flexor weakness, Pro... |
OMIM:603689 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Calf muscle hypertrophy, Gowers sign, Diff... |
ORPHA:86812 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Upper limb muscle weakness, Facial palsy, Weakness of long finger extensor muscles, Exe... |
ORPHA:98913 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Gowers sign, Elevated c... |
OMIM:612937 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal upper limb muscle weakness, Interosseus muscle atrophy, Distal lower limb amyotrophy, Decr... |
OMIM:500013 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Congenital Myopathy 8 |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Proximal muscle weakne... |
OMIM:618654 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Z-band streaming, Fatty replacement of skeletal muscle, Proximal muscle weakness, Centrally nucle... |
OMIM:618823 |
| Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Neck flexor weakn... |
ORPHA:399103 |
| Oculopharyngeal Muscular Dystrophy |
|
Ophthalmoplegia, Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentra... |
ORPHA:270 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Myoclonus, Ataxia, Muscle weakness, Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, P... |
OMIM:619518 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Hyperlordosis, Limb-girdle muscle weakness, Multiple joint contractures, Exertional dyspnea, Gowe... |
ORPHA:352470 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Gowers sign... |
OMIM:613204 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Scapuloperoneal weakness, Weakness of facial musculatu... |
OMIM:181400 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Distal upper limb muscle weakness, Proximal muscl... |
OMIM:620138 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Elevated circulating creatine k... |
OMIM:615422 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Respiratory insufficienc... |
OMIM:614399 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Respiratory insufficiency, Generalized muscle weakness, Flexion contracture, Proximal muscle weak... |
OMIM:609284 |
| Congenital Myopathy 3 With Rigid Spine |
|
Flexion contracture, Decreased body weight, Type 1 and type 2 muscle fiber minicore regions, Faci... |
OMIM:602771 |
| Myasthenic Syndrome, Congenital, 17 |
|
Muscle weakness, Difficulty walking, Type 1 muscle fiber predominance |
OMIM:616304 |
| Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak... |
OMIM:618414 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Distal upper limb muscl... |
OMIM:619566 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, EMG: myopathic abnormalities... |
ORPHA:276435 |
| Adult-Onset Nemaline Myopathy |
|
Poor fine motor coordination, Increased variability in muscle fiber diameter, Flexion contracture... |
ORPHA:171442 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Proximal muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapular wingi... |
OMIM:619477 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Proximal muscle weakn... |
ORPHA:353327 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Elevated circulating creatine kinase concentration, Decreased activity of mitochondrial complex I... |
OMIM:619024 |
| Merrf |
|
Multiple lipomas, Myopathy, Ragged-red muscle fibers, Ataxia |
ORPHA:551 |
| Myotonia Congenita, Autosomal Dominant |
|
Myotonia, Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm... |
OMIM:160800 |
| Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency, Hyperlordosis, Generalized muscle weakness, Decreased muscle mass, Oph... |
OMIM:603034 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Facial muscle hypertrophy, Myotonia, Myotonia of the upper limb, EMG: myopa... |
ORPHA:684 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... |
ORPHA:1878 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Progressive proximal muscle weakness, Autophagic vacuoles, Progressive di... |
OMIM:609452 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Amyotrophy of ankle musculature, Abnormality of the calf musculature, Progressive distal muscle w... |
ORPHA:399081 |
| Childhood-Onset Nemaline Myopathy |
|
Poor fine motor coordination, Flexion contracture, Facial diplegia, Nemaline bodies, Difficulty w... |
ORPHA:171439 |
| Myopathy, Tubular Aggregate, 1 |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Flexion contracture, P... |
OMIM:160565 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Respiratory insufficiency, Proximal muscle weakness, Nemaline bodies, Frequent falls, Hypertonia,... |
OMIM:161800 |
| Nemaline Myopathy 4 |
|
Flexion contracture, Gowers sign, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bod... |
OMIM:609285 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Respiratory insufficiency, Fatty replacement of skeletal muscle, Reduced forced vital capacity, R... |
OMIM:617232 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Lower limb muscle weakness, Kyphosis, Upper limb spasticity, Gait disturbance, Babinski sign, Spa... |
OMIM:611225 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Proximal muscle weakness, Generalized amyotrophy, Progressive proximal muscle weakness... |
OMIM:167320 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Proximal muscle weakness, Kyphosis, Scoliosis, Foot dorsiflexor weakness, Difficulty walking, Res... |
OMIM:617087 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Hyperlordosis, Exertional dyspnea, Generalized amyotrophy, Gowers sign, Ophthalmoparesis, Falls, ... |
OMIM:615156 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Respiratory distress,... |
OMIM:300580 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Proximal muscle weakness,... |
OMIM:253601 |
| Myopathy With Giant Abnormal Mitochondria |
|
Myopathy, Proximal muscle weakness, Limb-girdle muscle atrophy |
OMIM:255140 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
OMIM:608807 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Generalized muscle wea... |
ORPHA:238329 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Distal muscle weakness, Tremor, Difficulty walking, Vocal cord paralysis, Dis... |
OMIM:158580 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle hypertrophy, Gowers sign, Reduced muscle fiber alpha dystroglycan, Waddling gait, Cal... |
ORPHA:280333 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... |
OMIM:254130 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Myopathy, Elevated creatine kinase after exer... |
ORPHA:206599 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Pr... |
OMIM:616924 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Spasticity, Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture... |
OMIM:620068 |
| Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Tip-toe gait, Weakness of orbicularis oculi muscle, Distal lower limb amyotrop... |
ORPHA:2596 |
| Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Distal arthrogryposis, Decreased muscle mass, Respiratory failure, Art... |
OMIM:208081 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Fatty replacement of... |
ORPHA:34516 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Tip-toe gait, Calf muscle h... |
ORPHA:353 |
| Nemaline Myopathy 5 |
|
Respiratory insufficiency, Z-band streaming, Hip contracture, Shoulder flexion contracture, Type ... |
OMIM:605355 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Fasciculations, Late-onset proximal muscle w... |
OMIM:608810 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ophthalmoparesis, Fatigable weakness, Respiratory distress, Myopathy, Apneic episodes precipitate... |
OMIM:605809 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Gowers sign, Muscular dystrophy, Shoulder girdle mus... |
OMIM:603511 |
| Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Respiratory insufficiency, Myofibrillar myopathy, Generalized muscle we... |
OMIM:612954 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Fatigable weakness, Proximal muscle weakness, Scoliosis |
OMIM:614750 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy, Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak... |
ORPHA:75840 |
| Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, ... |
OMIM:611369 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... |
OMIM:255320 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Progressive proximal muscle weakness, Abnormal muscle fiber myotilin... |
ORPHA:98911 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Decreased plasma carnitine, Macroglossia, Elevated circulating creatine kinase concentration, Nec... |
OMIM:500009 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... |
ORPHA:488650 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Difficulty walking, Paralysis, Paresis of extensor muscles of the big toe, Distal lower limb musc... |
OMIM:608634 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Gowers sign, Babinski sign, Steppage gait, Scapular winging, Lower limb amyotrophy, Distal lower ... |
OMIM:615290 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Generalized muscle weakness, Progressive external ophthalmoplegia, EMG: myopathic abnormalities, ... |
OMIM:609283 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Respiratory insufficiency, Flexion contracture, Gowers sign, Proximal lower limb amyotrophy, Musc... |
OMIM:310440 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Proximal muscle weakness, Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy,... |
OMIM:611307 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... |
ORPHA:486815 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Hype... |
OMIM:253700 |
| Myopathy, Centronuclear, 2 |
|
Flexion contracture, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Genera... |
OMIM:255200 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased plasma carnitine, Macroglossia, Mildly elevated creatine kinase, Muscle weakness, Myopa... |
ORPHA:254864 |
| Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, EMG... |
OMIM:255700 |
| Myopathy, Distal, 3 |
|
Late-onset proximal muscle weakness, Joint contracture of the hand, Muscular dystrophy, EMG: myop... |
OMIM:610099 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Kyphosis, Generalized amyotrophy, Spinal rigidity, Myopathy, Scoliosis, Poor... |
OMIM:618323 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Generalized muscle weakness, Spinal muscular atrophy, Ophthalmoparesis... |
ORPHA:254875 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Hyperlordosis, Flexion contracture, Spinal rigidity, Cachexia, Gait di... |
ORPHA:157973 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Proximal muscle weakness, Progressive external ophthalmoplegia, Elevated circulating creatine kin... |
OMIM:617069 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Decreased activity of mitochondrial complex IV, Muscle weakness, Skeletal muscle atrophy, Increas... |
OMIM:300816 |
| Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Skeletal muscle hypertrophy, Muscle mounding |
OMIM:600332 |
| Myopathy, Centronuclear, 5 |
|
Abnormal circulating creatine kinase concentration, Proximal muscle weakness, Hip contracture, Ce... |
OMIM:615959 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Distal upper limb muscle weakness, Flexion contracture, Tongue fasciculations, EMG: myopathic abn... |
OMIM:619216 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers... |
OMIM:255160 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:437572 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Kyphosis, Calf muscle hyper... |
OMIM:618138 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Spasticity, Ankle clonus, Lower limb muscle weakn... |
OMIM:613954 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Distal upper limb muscle weakness, Generalized muscle weakness, Type 1 muscle fiber predominance,... |
ORPHA:178145 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Respiratory insufficiency, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively s... |
OMIM:255310 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Distal muscle weakness, Paralysis, Paresis of extensor muscles of the big toe, Distal lower limb ... |
OMIM:158590 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency, Muscle weakness, Myopathy |
OMIM:616314 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Respiratory insufficiency, Fatty replacement of skeletal muscle, Proximal muscle weakness, Myopat... |
OMIM:255100 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... |
ORPHA:57 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Respiratory insufficiency, Hyperlordosis, Increased adipose tissue, Proximal muscle weakness, Kyp... |
OMIM:617404 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Proximal musc... |
OMIM:300695 |
| Congenital Myopathy 16 |
|
Flexion contracture, Proximal muscle weakness, Postural tremor, Spinal rigidity, Axial muscle wea... |
OMIM:618524 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Hypokalemia, Myopathy |
OMIM:613345 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle weakness, Sco... |
OMIM:617066 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... |
OMIM:616812 |
| Central Core Disease |
|
Multiple joint contractures, Ophthalmoplegia, Central core regions in muscle fibers, Type 1 muscl... |
ORPHA:597 |
| Nemaline Myopathy 8 |
|
Flexion contracture, Ophthalmoparesis, Nemaline bodies, Muscle weakness, Respiratory failure, Myo... |
OMIM:615348 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ophthalmoparesis, Fatigable weakness, Respiratory distress, Apneic episodes precipitated by illne... |
OMIM:254210 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:160570 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia, Kyphoscoliosis, Tremor, Distal amyotrophy |
OMIM:619099 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Parado... |
OMIM:620011 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Muscle fiber atrophy, Tremor, Proximal muscle weakness in lower limbs, U... |
ORPHA:309169 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Lower limb muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Distal muscle we... |
OMIM:607641 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy, Decreased activity of mitochondrial respiratory chain |
OMIM:613076 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Gowers sign, Calf muscl... |
OMIM:611615 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Generalized amyotrophy, Gowers sign, Decreased activity of mitochondrial ATP synthase complex, Ra... |
OMIM:609560 |
| Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal upper limb muscle weakness, Distal lower limb amyotrophy, Paralysis, Distal muscle weaknes... |
OMIM:605285 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98863 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Spinal muscular atrophy, Proximal amyotrophy, Pro... |
OMIM:253300 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
| Typical Nemaline Myopathy |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Flexion contracture, Facial diplegia, Nem... |
ORPHA:171436 |
| Glycogen Storage Disease Ixd |
|
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... |
OMIM:300559 |
| Perching Syndrome |
|
Cyanosis, Camptodactyly, Respiratory distress, Scoliosis, Joint contracture |
OMIM:617055 |
| Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
| Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lower-limb joint contracture, Paralysis, Muscle weakness, Distal muscle weakness, Skeletal muscle... |
OMIM:613710 |
| Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
| Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Generalized muscle weakness, Fatty replacement of skeletal muscle, Tip-toe gait, Congenital muscu... |
ORPHA:370980 |
| Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98853 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy, Decreased activity of mitochondrial complex I |
OMIM:618246 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Dysdiadochokinesis, Premature graying of hair, Inguinal hernia, Dysme... |
OMIM:619903 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Hyperkalemi... |
OMIM:154275 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Hyperalaninemia, Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Spasticity, Ataxia, Babinski sign, Myopathy, Difficulty walking, Ragged-red muscle fibers |
OMIM:618242 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration |
OMIM:607091 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
ORPHA:596 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Proximal muscle weakness, Rhabdomyolysis, Progressive external ophthalmoplegia, Elevated circulat... |
OMIM:617070 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Myopathy, Myofibrillar, 8 |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Gow... |
OMIM:617258 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Respiratory insufficiency, Generalized muscle weakness, Hip contracture... |
ORPHA:1145 |
| Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Ophthalmoplegia, Internal... |
OMIM:619473 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers |
OMIM:159050 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor |
OMIM:618075 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Flexion contracture, Ophthalmoplegia, Congenital muscular dystrophy, Muscle weakness, Kyphoscolio... |
OMIM:607855 |
| Lethal Congenital Contracture Syndrome 4 |
|
Respiratory insufficiency, Distal arthrogryposis, Flexion contracture, Multiple joint contracture... |
OMIM:614915 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
ORPHA:401768 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... |
ORPHA:98810 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Gowers sign, Muscular dystrophy, Congenital muscular dystrophy, Elevated circulating creatine kin... |
OMIM:602541 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Proximal muscle weakness, Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular d... |
ORPHA:34515 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:314250 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Generalized muscle weakness, Proximal muscle weakness, Inability to walk, Absent muscle dystrophi... |
ORPHA:206546 |
| Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Progeroid facial appearance, Small, conical teeth, Sparse hair, Promin... |
ORPHA:2962 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Respiratory insufficiency, Flexion contracture, Kyphosis, Axial muscle weakness, Short neck, Mini... |
ORPHA:178148 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Decreased cervical spine flexion due to contractures of posterior cerv... |
ORPHA:98855 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Hyperkalemi... |
OMIM:154276 |
| Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op... |
OMIM:619790 |
| Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Skeletal muscle hypertrophy, Muscle moundin... |
OMIM:606072 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Distal upper limb muscle weakness, Flexion contracture, Lower limb muscle weakness, Hand muscle a... |
OMIM:607684 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Muscle weakness, Decreased activity of mitochondrial complex IV, Increased serum pyruvate, Ragged... |
OMIM:616794 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Limb-girdle muscle weakness, Gowers sign, Muscular dystrophy, Difficulty walking, Ankle flexion c... |
OMIM:613818 |
| Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Hyperextensible skin, Recurrent fractures, Short stature, Dermal translucency, Atrial septal defe... |
OMIM:619115 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Spasticity, Inability to walk, Ataxia, Type 1 muscle fiber predominance, Failure to thrive, Muscl... |
OMIM:618276 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Paradoxical myotonia, Skeletal muscle hypertrophy, Handgrip myotonia, Percussion myotonia |
OMIM:168300 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Distal lower l... |
OMIM:600175 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Muscle weakness, Hypokalemia, Myopathy |
OMIM:170400 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Spinal muscular atrophy, Joint contracture, Skeletal muscle atrophy, R... |
OMIM:616081 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Spastic diplegia, Myoclonus, Increased intramyoce... |
OMIM:619065 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Lower limb muscle weakness, Calf muscle hypertrophy, Macroglossia, Elevated circulating creatine ... |
OMIM:616052 |
| Amish Nemaline Myopathy |
|
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... |
ORPHA:98902 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Respiratory insufficiency, Apneic episodes in infancy, Apnea, Hypercapnia, Increased serum lactat... |
OMIM:618222 |
| Brody Disease |
|
Flexion contracture, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia |
OMIM:601003 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations |
ORPHA:85162 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Myopathy |
ORPHA:366 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Limb-girdle muscle weakness, Proximal muscle weakness, Muscle fiber atrophy, Difficulty... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Limb-girdle muscle weakness, Proximal muscle weakness, Muscle fiber atrophy, Difficulty... |
ORPHA:590 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Fatty replacement of skeletal muscle, Proximal muscle weakness, Parkinsonism, Weakness... |
ORPHA:329478 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Ataxia |
ORPHA:2579 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Respiratory insufficiency, Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal ... |
OMIM:181405 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hernia, Atrophic scars, Bruising susceptibility, Muscle weakness, Kyphoscoliosis, Myopathy, Skele... |
ORPHA:300179 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Reduced maximal inspiratory pressure, Ventilator dependence with inability to wean, Reduced force... |
ORPHA:505395 |
| Muscular Dystrophy, Congenital, 1B |
|
Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... |
OMIM:604801 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Proximal muscle weakness, Ataxia |
OMIM:551500 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Failure to thrive, Myopathy, Respiratory distress |
ORPHA:91130 |
| Marinesco-Sjogren Syndrome |
|
Gait ataxia, Spasticity, Flexion contracture, Centrally nucleated skeletal muscle fibers, Kyphosi... |
OMIM:248800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal muscle weakness, Calf muscle hypertrophy, Elbow contracture, Shoulder girdle muscle atro... |
OMIM:606612 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Wrist flexion contracture, Spasticity, Distal upper limb muscle weakness, Distal lower limb amyot... |
OMIM:616668 |
| Neutral Lipid Storage Disease With Myopathy |
|
Proximal muscle weakness, Gowers sign, Elevated circulating creatine kinase concentration, Myopat... |
OMIM:610717 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kin... |
ORPHA:263494 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Myotonia |
OMIM:254950 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Death in infancy, Nemaline bodies, Respiratory fa... |
OMIM:619334 |
| Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Elevated circ... |
OMIM:123320 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Myotonia, Potassium-Aggravated |
|
Myotonia, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Percussion myotonia, Handgrip myo... |
OMIM:608390 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Flexion contracture, P... |
OMIM:254090 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu... |
ORPHA:324581 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, Steppage gait, EMG: myopathic abnormalities |
OMIM:600334 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... |
ORPHA:169189 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, General... |
ORPHA:171881 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Spinal muscular atro... |
OMIM:301830 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Pelvic gird... |
ORPHA:119 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy, Myotonia |
OMIM:158800 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Rhabdomyolysis, Ophthalmoparesis, Abnormal iron d... |
OMIM:255125 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Ankle clonus, Proximal muscle weakness, External ophthalmoplegia, Noct... |
OMIM:211530 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Hyperlordosis, Proximal muscle weakness, Calf mus... |
OMIM:613157 |
| Familial Cold Autoinflammatory Syndrome 4 |
|
Fever |
OMIM:616115 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Elev... |
ORPHA:264675 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Nocturnal hypoventilation, C... |
OMIM:616470 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Congenital fibrosis of extraocular muscles, Kyphosis, Pectus excavatum |
OMIM:609384 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Death in infancy, Muscular dystrophy, Apnea, Respiratory failure |
OMIM:613869 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Flexion contracture, Proximal muscle weakness, Internally nucleated skeletal muscle fibers, Facia... |
ORPHA:98905 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Chorea, Ophthalmoparesis, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Freq... |
OMIM:500003 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... |
OMIM:617114 |
| Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Anhidrosis, Isolated, With Normal Sweat Glands |
|
Heat intolerance |
OMIM:106190 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Gordon Syndrome |
|
Camptodactyly of finger, Decreased muscle mass, Scoliosis, Pectus excavatum |
ORPHA:376 |
| Neuropathy, Hereditary Thermosensitive |
|
Fever |
OMIM:602107 |
| Myopathic Ehlers-Danlos Syndrome |
|
Foot joint contracture, Flexion contracture, Proximal muscle weakness, Multiple joint contracture... |
ORPHA:536516 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements |
OMIM:618425 |
| Oculopharyngodistal Myopathy |
|
Abnormality of orbicularis oris muscle, Recurrent aspiration pneumonia, Progressive distal muscle... |
ORPHA:98897 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
First dorsal interossei muscle weakness, Centrally nucleated skeletal muscle fibers, Triceps weak... |
OMIM:619574 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Generalized muscle weakness, Ophthalmoparesis, Gowers sign, Neck muscle weakness, Weakness of fac... |
OMIM:608930 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Proximal muscle weakness, Muscle fiber atrophy, External ophthalmoplegia, Shuffling gait, Facial ... |
ORPHA:254886 |
| Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Limb ataxia, Upper motor neuron ... |
ORPHA:95434 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice, Gait disturbance, Macroglossia, Muscle weakness, Myopathy, Skeletal muscle hypertrophy,... |
ORPHA:2349 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Progressive external ophthalmoplegia, Mildly elevated cre... |
ORPHA:663 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Vocal cord paresis, Aspiration, Abnormality of the calf musculature, Shoulder girdle muscle weakn... |
ORPHA:600 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm, Increased susceptibility to fractures, Hyperextensible skin, Advanced ossif... |
OMIM:615349 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Rigidity, Ataxia, Bradykinesia, Fasciculations |
OMIM:183050 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise, Hypercapnia, Metabolic ... |
ORPHA:423 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Muscle weakness, Acute rhabdomyolysis, Hyperkalemia, Elevated circulating creatine kinase concent... |
OMIM:268200 |
| Boomerang Dysplasia |
|
Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Abnormally... |
ORPHA:1263 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Thin skin, Flexion contracture, Cutis laxa, Dermal translucency, Elbow flexion contracture, Pylor... |
OMIM:614438 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Long philtrum, Spastic tetraplegia, Spastic gait, Truncal ataxia, Secundum atrial septal defect, ... |
OMIM:619121 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy, Scoliosis |
ORPHA:50817 |
| King-Denborough Syndrome |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Type ... |
OMIM:619542 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Spasticity, Spastic tetraplegia, Inability to walk, Respiratory distress, Spastic paraplegia, Kyp... |
OMIM:617977 |
| Brachyolmia, Maroteaux Type |
|
Short thorax, Pectus excavatum, Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies |
ORPHA:93302 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Hypercapnia |
OMIM:601887 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Gait disturbance, Ataxia, Distal muscle weakness, Tremor, Skeletal muscle atrophy, Scol... |
ORPHA:101078 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Late-onset proximal muscle weakness, Fatigable weakness of respiratory musc... |
ORPHA:681 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations |
OMIM:613728 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Proximal muscle weakness, Type 2 muscle fiber atrophy, Frequent falls,... |
ORPHA:98915 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia |
ORPHA:371 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Multiple joint contractures, Microdontia, Atlantoaxial dislocat... |
ORPHA:536467 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Polyhydramnios, Prenatal death, Kyphosis, Camptodactyly, Short neck, Skeletal m... |
OMIM:618393 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Gowers sign,... |
ORPHA:169186 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Poor head control, Increased variability in muscle fiber diameter, Mitochondrial swelling |
OMIM:615595 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Patent foramen ovale, F... |
OMIM:616866 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Multiple joint contractures, Calf muscle ... |
ORPHA:370968 |
| Leber Hereditary Optic Neuropathy |
|
Ataxia, Myopathy, Postural tremor, Retinal telangiectasia |
ORPHA:104 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
| Hereditary Continuous Muscle Fiber Activity |
|
Spastic gait, Ataxia, Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Slurred ... |
ORPHA:972 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Hyperlordosis, Proximal muscle weakness, Muscle fiber atrophy, Muscular dystrophy, Trunca... |
ORPHA:369840 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Scoliosis, Pectus excavatum |
ORPHA:1937 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Muscle weakness, Abnormal muscle fiber protein expression, Decreased circulating ferritin concent... |
ORPHA:330054 |
| Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Respiratory insufficiency, Fusion of midcervical facet joints, Widening of cervical spinal canal,... |
OMIM:606842 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Spasticity, Ophthalmoplegia, Gait disturbance, At... |
OMIM:125250 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Bifid uvula, Short neck, Smooth philtrum, Coarse hair, Peripheral pulmonary arter... |
OMIM:617506 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... |
OMIM:616816 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Nocturnal hypoventilat... |
ORPHA:324604 |
| Bronchopulmonary Dysplasia |
|
Hyperoxemia, Tracheobronchomalacia, Small for gestational age, Abnormal respiratory system physio... |
ORPHA:70589 |
| Nemaline Myopathy 9 |
|
Respiratory insufficiency, Nemaline bodies, Muscle weakness, Scoliosis, Arthrogryposis multiplex ... |
OMIM:615731 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Poor fine motor coordination, Proximal muscle weakness, Frequent falls, Difficulty walking, Stepp... |
ORPHA:435387 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Axial muscle atrophy, Limb-girdle muscle weakness, Generalized muscle weakness, Exertional dyspne... |
ORPHA:254361 |
| Costello Syndrome |
|
Lack of skin elasticity, Polyhydramnios, Thickened Achilles tendon, Narrow palate, Short stature,... |
ORPHA:3071 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Proximal muscle weakness, Rhabdomyolysis, Choreoathetosis, Ataxia, Weakness of facial musculature... |
OMIM:618416 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Respiratory insufficiency, Abnormal pyramidal sign, Lower limb muscle weakness, Ophthalmoplegia, ... |
OMIM:616479 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Proximal muscle weakness, Lower limb muscle weakness, Muscular dystrophy, Lipodystrophy, Muscle w... |
OMIM:615980 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Premature graying of hair, Retinal telangiectasia, Sparse hair, Postnatal growth retardation, Inc... |
OMIM:612199 |
| Neuralgic Amyotrophy |
|
Respiratory insufficiency, Scapular winging, Muscle weakness, Acrocyanosis |
ORPHA:2901 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia, Kyphosis, Paroxysmal dyston... |
OMIM:619909 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Hand muscle atrophy, Limb muscle weakness, Lumbar hyperlordosis |
OMIM:600561 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Ataxia |
OMIM:208700 |
| Kearns-Sayre Syndrome |
|
Progressive intervertebral space narrowing, Hemiplegia/hemiparesis, Progressive external ophthalm... |
ORPHA:480 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Kyphosis, Spinal rigidity, Neuropathic spinal arthropathy, Progressive ex... |
ORPHA:352447 |
| Myotonia Fluctuans |
|
Myotonia with warm-up phenomenon, Myotonia of the lower limb, Spasticity of facial muscles, Myoto... |
ORPHA:99734 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis, Flexion contracture, Muscular dystrophy, Pectus excavatum, Skeletal muscle hypertr... |
OMIM:611588 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Kyphosis, Spastic tetraplegia, Failure to thrive, Myopathy |
OMIM:618237 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscular dystrophy, Ske... |
OMIM:614302 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Proximal muscle weakness, Tip-toe gait, Nocturnal hypoventilatio... |
OMIM:607155 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Camptodactyly of finger, Peroneal muscle atrophy, Weakness of long finger extensor muscles, Flexi... |
ORPHA:324442 |
| Myopathy, Tubular Aggregate, 2 |
|
Generalized muscle weakness, Proximal muscle weakness, Elevated circulating creatine kinase conce... |
OMIM:615883 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, Muscle weakness, Waddling gait, R... |
OMIM:617336 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Lower limb muscle weakness, Abnormality of jaw muscles, Highly elevated creati... |
ORPHA:99845 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... |
ORPHA:1303 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Proximal muscle weakness, Muscle fiber atrophy, Truncal ataxia, Progressive external ophthalmople... |
OMIM:258450 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Generalized muscle weakness, Lower limb muscle weakness, Hand muscle atrophy, Ophthalmoplegia, Op... |
OMIM:601462 |
| Intermediate Nemaline Myopathy |
|
Generalized muscle weakness, Flexion contracture, Ophthalmoplegia, EMG: myopathic abnormalities, ... |
ORPHA:171433 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Polyhydramnios, Diastasis recti, Thoracic hypoplasia, Omphalocele, Umbi... |
ORPHA:254534 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Fascic... |
ORPHA:1143 |
| Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Rib fusion, Scoliosis, Shou... |
ORPHA:64755 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Knee flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Decreased cervi... |
OMIM:310300 |
| Spastic Paraplegia Type 7 |
|
Lower limb muscle weakness, Lower limb hypertonia, Upper limb muscle weakness, Ragged-red muscle ... |
ORPHA:99013 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival hyperkeratosis, Everted lower lip vermilion, Fragile skin, Hirsutism, Gingival overgrowt... |
OMIM:225410 |
| Immune-Mediated Necrotizing Myopathy |
|
