Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
Muscular dystrophy, limb-girdle, type 2R |
|
Facial palsy, Scapular winging, Elbow flexion contracture, Muscular dystrophy |
OMIM:615325 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... |
OMIM:608423 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
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 |
Vacuolar Neuromyopathy |
|
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... |
OMIM:601846 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle... |
OMIM:158901 |
Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... |
OMIM:301075 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Increased endomysial connective tissue, Ankle flexion contracture, Flexion co... |
OMIM:617072 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... |
OMIM:613530 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Muscular dy... |
OMIM:611307 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... |
OMIM:254130 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Scap... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... |
OMIM:603511 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... |
OMIM:616852 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... |
OMIM:181350 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 muscle fib... |
OMIM:160150 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging |
OMIM:310095 |
Polyglucosan Body Myopathy 2 |
|
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Limb-girdle muscle weak... |
OMIM:616199 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... |
ORPHA:34515 |
Miyoshi Muscular Dystrophy 3 |
|
Calf muscle hypertrophy, Muscular dystrophy, Quadriceps muscle atrophy |
OMIM:613319 |
Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... |
OMIM:608810 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
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 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Muscular Dystrophy, Scapulohumeral |
|
Scapulohumeral muscular dystrophy |
OMIM:600416 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... |
ORPHA:267 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat... |
OMIM:619566 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Deposits immunoreactive to beta... |
OMIM:605820 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,... |
OMIM:610099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy |
OMIM:608807 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... |
OMIM:609115 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Muscular dystrophy, Scapular winging, Myositis, Lower limb muscle weakness, ... |
OMIM:253600 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Scapular winging, Increased variability in muscle fiber diameter, R... |
ORPHA:602 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Calf muscle hypertrophy, Muscular dystrophy, Scapular winging, Proximal amyotrophy |
OMIM:601287 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Increased variability in muscle fiber diameter, Optic atrophy, Centrally nucleate... |
ORPHA:401768 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles |
ORPHA:263494 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Congenital muscular dystrophy, Facial palsy, Myopathy, Muscular dystrophy |
OMIM:602541 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Muscular dystrophy, Congenital muscular dystrophy |
OMIM:613151 |
Salih Myopathy |
|
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:611705 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture |
OMIM:613723 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
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 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Muscular dystrophy, Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculatur... |
ORPHA:2926 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture |
OMIM:609308 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture... |
OMIM:612954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Muscular dystrophy |
OMIM:615041 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... |
OMIM:602771 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Skeletal muscle atr... |
OMIM:616827 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612999 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Muscular dystrophy, Increased variability in muscle fiber diameter, Limb-g... |
OMIM:616812 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Facial palsy |
OMIM:613155 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird... |
ORPHA:370980 |
Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Foot dorsiflexor we... |
ORPHA:603 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital muscular dystrophy, Generalized amyotrophy, Flexion contracture |
OMIM:613205 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Increased endomysial connective tissue, Triceps weakness, EMG: myopathic ab... |
ORPHA:437572 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Calf muscle hypertrophy... |
OMIM:608840 |
Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minicore myopathy, Con... |
ORPHA:598 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Calf muscle pseudohypertrophy |
OMIM:300376 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... |
OMIM:123320 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy |
OMIM:616094 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture |
ORPHA:62 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Flexion contracture |
OMIM:613869 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... |
OMIM:606070 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Muscular dystrophy, Flexion contracture |
OMIM:613154 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy |
OMIM:309930 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Muscular dystrophy, Distal lower limb muscle weakness, Dystonia, Progressive distal muscular atrophy |
ORPHA:459033 |
Mitochondrial Myopathy With Diabetes |
|
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Ragged-red muscle fibers, Lim... |
OMIM:500002 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular winging, Shoulder girdle mus... |
OMIM:158900 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy |
OMIM:611588 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Shoulder girdle muscle weakness, Weakness of facial musculature, Angulated muscle fibers, Scapula... |
OMIM:619477 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan |
OMIM:615352 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:607855 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan |
OMIM:615350 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Elbow flexion contracture |
OMIM:616516 |
Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:266 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:614302 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Limb-girdle muscular dystrophy, Myopathy, Muscular dystrophy |
ORPHA:369840 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Increased intramyocellul... |
ORPHA:457050 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle weakness, Type 1 muscle... |
OMIM:255160 |
Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... |
ORPHA:596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Congenital musc... |
OMIM:615351 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Congenital muscular dyst... |
OMIM:601170 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... |
ORPHA:272 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Macroglossia, Flexion contracture, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Mus... |
OMIM:613156 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
Bethlem Myopathy |
|
Multiple joint contractures, Flexion contracture, EMG: myopathic abnormalities, Quadriceps muscle... |
ORPHA:610 |
Myopathy, Centronuclear, 2 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... |
OMIM:255200 |
Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Tremor, Sho... |
OMIM:605355 |
Merrf |
|
Optic atrophy, Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... |
ORPHA:280333 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Centra... |
OMIM:255310 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Shoulder ... |
OMIM:606612 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Scapular winging, Type 1 muscle f... |
ORPHA:169186 |
Myopathy, Myofibrillar, 8 |
|
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Limb muscle weakness, Gen... |
OMIM:617258 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelvic girdle muscle wea... |
OMIM:167320 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
Myopathy, Distal, 1 |
|
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... |
OMIM:160500 |
King-Denborough Syndrome |
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Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... |
OMIM:619542 |
Lethal Congenital Contracture Syndrome 5 |
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Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve... |
OMIM:615368 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Scapular winging, Muscle fiber splitting, Myopathy, Proximal amyotrophy |
OMIM:618129 |
Autosomal Dominant Centronuclear Myopathy |
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Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... |
ORPHA:169189 |
Finnish Upper Limb-Onset Distal Myopathy |
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Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Joint contracture of the hand, EM... |
ORPHA:399086 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
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Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Tremor, Centrally nucleated skeletal mu... |
OMIM:619574 |
Ullrich Congenital Muscular Dystrophy 1 |
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Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... |
OMIM:254090 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
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Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... |
OMIM:616052 |
Nemaline Myopathy 4 |
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Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Limb mus... |
OMIM:609285 |
Spinal Muscular Atrophy, Infantile, James Type |
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Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
Lipodystrophy, Familial Partial, Type 6 |
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Lower limb muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Myopathy |
OMIM:615980 |
Distal Myopathy, Tateyama Type |
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Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Marinesco-Sjogren Syndrome |
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Flexion contracture, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle... |
OMIM:248800 |
Amish Nemaline Myopathy |
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Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Tremor, Shoulder... |
ORPHA:98902 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
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Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
Congenital Disorder Of Glycosylation, Type Ie |
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Muscular dystrophy, Camptodactyly, Optic atrophy, Tremor, Knee flexion contracture, Ankle flexion... |
OMIM:608799 |
Nemaline Myopathy 2 |
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Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... |
OMIM:256030 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
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Limb-girdle muscular dystrophy, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:612937 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
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Calf muscle hypertrophy, Rimmed vacuoles, Skeletal muscle atrophy |
OMIM:617760 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
Glycerol Kinase Deficiency |
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Muscular dystrophy, Myopathy |
OMIM:307030 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
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Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Optic nerve hypoplasia, Muscular dystrophy |
OMIM:615181 |
Classic Multiminicore Myopathy |
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Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... |
ORPHA:324604 |
Glycogen Storage Disease Ixd |
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Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... |
OMIM:300559 |
Marinesco-Sjögren Syndrome |
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Muscular dystrophy, Optic atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeleta... |
ORPHA:559 |
Congenital Muscular Dystrophy, Ullrich Type |
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Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Proximal muscle... |
OMIM:618138 |
Myasthenic Syndrome, Congenital, 14 |
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Ragged-red muscle fibers, Scapular winging, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... |
ORPHA:1145 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Congenital muscular dystrophy |
ORPHA:324416 |
Combined Oxidative Phosphorylation Deficiency 6 |
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Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Myopathy, Myofibrillar, 4 |
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EMG: myopathic abnormalities, Autophagic vacuoles, Myofibrillar myopathy, Muscle fiber splitting |
OMIM:609452 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
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Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... |
ORPHA:329478 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... |
OMIM:613954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Muscular Dystrophy, Duchenne Type |
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Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Calf mu... |
OMIM:310200 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
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Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... |
OMIM:614399 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... |
ORPHA:397744 |
Mitochondrial Myopathy, Infantile, Transient |
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Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
OMIM:500009 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Muscular dystrophy, Optic nerve dysplasia |
OMIM:615287 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
Myotubular Myopathy With Abnormal Genital Development |
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Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Myopathy, Proximal, With Ophthalmoplegia |
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Scapular winging, Congenital contracture, Muscle fiber inclusion bodies, Myopathy |
OMIM:605637 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Congenit... |
OMIM:607155 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Muscle fiber necrosis, Weakness of facial musculature, Scapular winging, Increased variability in... |
OMIM:607459 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of alpha-dystroglycan, Macroglossia, S... |
ORPHA:370959 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Atrial Standstill |
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Left ventricular noncompaction, Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture |
ORPHA:1344 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... |
OMIM:613327 |
Central Core Disease |
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Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Pelvic girdl... |
ORPHA:597 |
Striatonigral Degeneration, Infantile, Mitochondrial |
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Ragged-red muscle fibers, Lingual dystonia, Paroxysmal choreoathetosis |
OMIM:500003 |
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 |
Autosomal Recessive Progressive External Ophthalmoplegia |
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Hand muscle weakness, Muscle fiber atrophy, Action tremor, Scapular winging, Optic atrophy, Ragge... |
ORPHA:254886 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
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Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Dpm1-Cdg |
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Optic atrophy, Muscular dystrophy, Knee flexion contracture, Camptodactyly |
ORPHA:79322 |
Myopathy, Myofibrillar, 7 |
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Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
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Facial diplegia, EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness, Ge... |
OMIM:609560 |
Scapuloperoneal Spinal Muscular Atrophy |
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Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Scapuloperoneal amyot... |
OMIM:181405 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
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Flexion contracture, Left ventricular noncompaction, Optic atrophy, Ragged-red muscle fibers, Inc... |
OMIM:252011 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
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Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... |
ORPHA:254864 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macroglossia, Muscular dy... |
ORPHA:258 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
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Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Muscular dystrophy, Flexion contracture |
OMIM:615249 |
Walker-Warburg Syndrome |
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Optic atrophy, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeleta... |
ORPHA:899 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
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Abnormal muscle fiber protein expression |
ORPHA:330054 |
Kearns-Sayre Syndrome |
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Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
Spastic Paraplegia Type 7 |
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Lower limb muscle weakness, Optic atrophy, Optic disc pallor, Ragged-red muscle fibers, Lower lim... |
ORPHA:99013 |
Spinocerebellar Ataxia 28 |
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Ragged-red muscle fibers, Dystonia, Lower limb hypertonia |
OMIM:610246 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98855 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Muscle fiber necrosis, Muscle fiber atrophy, Intention tremor, Weakness of facial musculature, EM... |
OMIM:258450 |
Combined Oxidative Phosphorylation Deficiency 28 |
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Ragged-red muscle fibers |
OMIM:616794 |
Myoglobinuria, Recurrent |
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Ragged-red muscle fibers |
OMIM:550500 |
Cap Myopathy |
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Abnormal muscle fiber morphology, Increased variability in muscle fiber diameter, Lower limb amyo... |
ORPHA:171881 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... |
ORPHA:57 |
Combined Oxidative Phosphorylation Defect Type 27 |
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Ragged-red muscle fibers, Upper limb postural tremor |
ORPHA:477774 |
Juvenile Amyotrophic Lateral Sclerosis |
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Oromandibular dystonia, Amyotrophic lateral sclerosis, Lower-limb joint contracture, Muscle fiber... |
ORPHA:300605 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Cranial nerve compression, EMG: myopathic abnormalities, Rimmed va... |
ORPHA:52430 |
Adrenal Hypoplasia, Congenital |
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Muscular dystrophy |
OMIM:300200 |
Neu-Laxova Syndrome |
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Flexion contracture, Opisthotonus, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal ... |
ORPHA:2671 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... |
ORPHA:261 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Flexion contracture, Calf muscle hypertrophy, Optic atrophy, Congen... |
OMIM:253800 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscular dystrophy |
ORPHA:88618 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... |
ORPHA:600 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, Resting tremor, EMG: myopathic abnormalities, Increased variability in mus... |
OMIM:157640 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy |
OMIM:616538 |
Immune-Mediated Necrotizing Myopathy |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Myo... |
ORPHA:206569 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers, Dystonia |
OMIM:614924 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Muscular dystrophy |
ORPHA:300751 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy |
OMIM:540000 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Muscular dystrophy |
OMIM:614643 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Weakness of facial musculature, Generalized amyotrophy, Myopathy, Ragged-red muscle fibers |
ORPHA:352447 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand |
OMIM:175700 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Skeletal mu... |
OMIM:615418 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
Marden-Walker Syndrome |
|
Muscular dystrophy, Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculatur... |
ORPHA:2461 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the extraocular muscles, Decreased sensory nerve conduction velocity, Decreased mo... |
ORPHA:298 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... |
OMIM:616866 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Muscular dystrophy, Flexion contracture |
ORPHA:158684 |
Mosaic Variegated Aneuploidy Syndrome |
|
Muscular dystrophy, Rhabdomyosarcoma |
ORPHA:1052 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Optic nerve hypoplasia, Congenital contracture, Congenital muscular dystrophy |
OMIM:236670 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Rhabdomyolysis, Muscle fiber atrophy, Increased muscle lipid content |
ORPHA:228302 |
Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fo... |
OMIM:164310 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
Neuromuscular Oculoauditory Syndrome |
|
Muscle fiber necrosis, Decreased nerve conduction velocity, EMG: myopathic abnormalities, Calf mu... |
OMIM:618733 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Muscular dystrophy |
OMIM:253280 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Myopathy, Abnormality of skeletal mus... |
ORPHA:79083 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Muscle fiber splitting, Proximal amyotrophy |
OMIM:606408 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle, Tremor |
OMIM:607426 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Congenital Myasthenic Syndrome |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Frontalis muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Limb-girdle muscle weakness, Frontalis muscle... |
ORPHA:98914 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Resting tremor, EMG: myopathic abnormalities, Quadriceps muscle weakness, Left v... |
ORPHA:254892 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, ... |
ORPHA:98908 |
Polymyositis |
|
Abnormal muscle fiber morphology |
ORPHA:732 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Lower limb muscle weakness, Increased intramyocellular lipid dr... |
ORPHA:79102 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, EMG: myopathic abnormalities, Wrist drop, Limb muscle weakness, Elbow flexi... |
ORPHA:1900 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter |
ORPHA:70595 |
Native American Myopathy |
|
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Arthrogryposis mu... |
ORPHA:168572 |
Overlap Myositis |
|
Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... |
ORPHA:206572 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Increased variability in muscle fiber diameter, Increased intramyocellular l... |
ORPHA:17 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy |
OMIM:611881 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Abnormality of the shoulder girdle musculature, Abnormality of the calf musculature, Rimmed vacuo... |
ORPHA:565612 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Allodynia, Distal amyotrophy |
OMIM:603041 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Ragged-red muscle fibers, Dystonia |
ORPHA:255210 |
Choreoacanthocytosis |
|
Oromandibular dystonia, Lingual dystonia, Muscle fiber atrophy, Blepharospasm, Laryngeal dystonia... |
ORPHA:2388 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Hypoglycosylation of alpha-dystroglycan |
ORPHA:370997 |