| Exercise Intolerance, Riboflavin-Responsive |
|
Exercise intolerance, Ragged-red muscle fibers |
OMIM:616839 |
| Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
OMIM:271150 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Lower limb muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Distal muscle we... |
OMIM:607641 |
| Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Fatig... |
ORPHA:2593 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Proximal muscle weakness, C... |
OMIM:254110 |
| Myopathy, Distal, 5 |
|
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... |
OMIM:617030 |
| Scapuloperoneal myopathy, myh7-related |
|
Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy, EMG: myopathic abnormalities |
OMIM:181430 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Distal upper limb muscle weakness, Fatty replacem... |
OMIM:301075 |
| 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, Muscl... |
OMIM:615424 |
| Vacuolar Neuromyopathy |
|
Muscle fiber splitting, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Muscula... |
OMIM:601846 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myalgia, Inflammatory myopathy, Skele... |
ORPHA:611 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proximal muscle weakness in low... |
OMIM:158600 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Generalized muscle weakness, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Sc... |
OMIM:608358 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... |
OMIM:608423 |
| 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, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
| Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Wrist drop, Centrally nucle... |
OMIM:616852 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Centrally nucleated ... |
OMIM:117000 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... |
OMIM:613530 |
| Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal muscle weak... |
OMIM:605820 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Proximal muscle weakness,... |
OMIM:617760 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Myopathy, Skeletal muscle atrophy, Exercise intolerance, Limb muscle weakness |
OMIM:609273 |
| Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Proximal muscle weakness, Autop... |
OMIM:618655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Extern... |
OMIM:160150 |
| Spinal Muscular Atrophy, Segmental |
|
Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology, Hand muscle atrophy |
OMIM:183020 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles |
OMIM:604454 |
| Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Proximal muscle weakness, Centr... |
OMIM:619178 |
| Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Centrally nucleated skeleta... |
OMIM:614321 |
| Myopathy, Centronuclear, 4 |
|
Muscle weakness, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Scapuloperoneal weakness, Weakness of facial musculatu... |
OMIM:181400 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Myalgia, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar m... |
OMIM:609200 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Neck flexor weakness, Short stature, Proximal muscle weakness in lower limbs, Ragged-red muscle f... |
OMIM:616209 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia, Weakness of facial musculature, Angulated muscle fibers, Scapular winging, ... |
OMIM:619477 |
| Carnitine Deficiency, Myopathic |
|
Myopathy, Reduced muscle carnitine level |
OMIM:212160 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... |
OMIM:615422 |
| Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
| Distal Myopathy With Anterior Tibial Onset |
|
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... |
ORPHA:178400 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
| Mitochondrial Myopathy With Diabetes |
|
Proximal muscle weakness, Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Rag... |
OMIM:500002 |
| Inclusion Body Myositis |
|
Proximal muscle weakness, Inflammatory myopathy, Distal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
| Myasthenic Syndrome, Congenital, 17 |
|
Muscle weakness, Type 1 muscle fiber predominance |
OMIM:616304 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Proximal muscle weakness, Spinal muscular atrophy, Joint contracture of the hand, Abnormal lower ... |
OMIM:611067 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
OMIM:618848 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
OMIM:612999 |
| Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Neck flexor weakness, Short stature, Increased intramyocellular lipid droplets, Weakness of facia... |
ORPHA:457050 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Distal muscle weakness, Fiber type grouping |
OMIM:614369 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Z-band streaming, Fatty replacement of skeletal muscle, Proximal muscle weakness, Centrally nucle... |
OMIM:618823 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Myositi... |
OMIM:253600 |
| Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Skin rash, Muscle fiber necrosis, Myositis, EMG: myopathic abnormalities, Arthralgia... |
ORPHA:206569 |
| Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op... |
OMIM:618940 |
| Myopathy, Centronuclear, 2 |
|
Flexion contracture, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Genera... |
OMIM:255200 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Distal upper limb muscle weakness, Generalized muscle weakness, Type 1 muscle fiber predominance,... |
ORPHA:178145 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Myopathy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Congenital contracture |
OMIM:208100 |
| Juvenile Primary Lateral Sclerosis |
|
Muscle weakness, Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| 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 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 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
| Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Flexion contracture,... |
OMIM:602771 |
| Myopathy, Distal, 4 |
|
Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal... |
OMIM:614065 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Decreased motor nerve conduction veloci... |
OMIM:620068 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Shor... |
OMIM:619042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
| Zebra Body Myopathy |
|
Muscle fiber splitting, Proximal muscle weakness, Autophagic vacuoles, Gowers sign, Torticollis, ... |
ORPHA:97240 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:266 |
| Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Myopathy With Giant Abnormal Mitochondria |
|
Myopathy, Limb-girdle muscle atrophy |
OMIM:255140 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... |
ORPHA:86812 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... |
OMIM:255320 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Fatigable weakness, Proximal muscle weakness |
OMIM:614750 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Generalized muscle weakness, Progressive external ophthalmoplegia, EMG: myopathic abnormalities, ... |
OMIM:609283 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
| Bethlem Myopathy 1 |
|
Camptodactyly of finger, Limb-girdle muscle weakness, Torticollis, Elbow flexion contracture, Myo... |
OMIM:158810 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy |
ORPHA:1878 |
| Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Generalized muscle weakness, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers... |
OMIM:255310 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Neck muscle weakness, Centrally nucleated skeletal muscle fibers, Respiratory... |
OMIM:617066 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Myalgia, Infl... |
OMIM:123320 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... |
OMIM:254130 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Abnormal peripheral n... |
ORPHA:353327 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
| Spinal Muscular Atrophy, Type Iii |
|
Proximal muscle weakness, Spinal muscular atrophy, Lower limb muscle weakness, Degeneration of an... |
OMIM:253400 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers... |
OMIM:255160 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Centrally nucleated ... |
OMIM:611705 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy |
OMIM:616471 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Myopathy |
ORPHA:206599 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:437572 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Calf muscle hypertrophy |
ORPHA:565899 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscle fiber atrophy, O... |
OMIM:618654 |
| Congenital Myopathy 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak... |
OMIM:618414 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Gowers sign... |
OMIM:613204 |
| Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Arthralgia, Myositis, Myalgia, Muscular edema, Fatigue |
ORPHA:3165 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Distal muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Acne, Crohn's disease, Arthritis, Arthralgia, Myositis, Pustule, Increased inflammatory response,... |
ORPHA:69126 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... |
ORPHA:486815 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers |
OMIM:159050 |
| Multiminicore Myopathy |
|
External ophthalmoplegia, Short stature, Abnormal muscle fiber morphology, Congenital muscular dy... |
ORPHA:598 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Proximal muscle weakness, Progressive external ophthalmoplegia, Weakness of facial musculature, S... |
OMIM:617069 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Ce... |
OMIM:618484 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Flexion contracture, EMG: myopathic abnormalities, Myalgia, Foot dorsiflexor weakness, Distal low... |
OMIM:619216 |
| Myositis |
|
Myositis |
OMIM:160750 |
| Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
| Myopathy, Centronuclear, 5 |
|
Proximal muscle weakness, Hip contracture, Centrally nucleated skeletal muscle fibers, Ophthalmop... |
OMIM:615959 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Muscle weakness, Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lat... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Muscle weakness, Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lat... |
OMIM:616437 |
| Focal Myositis |
|
Myositis, Myalgia |
ORPHA:48918 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Gowers sign, Muscular dystrophy, Shoulder girdle mus... |
OMIM:603511 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... |
OMIM:605637 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... |
OMIM:616812 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Amyotrophy of ankle musculature, Abnormality of the calf musculature, Weakness of the intrinsic h... |
ORPHA:399081 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Generalized muscle weakness, Flexion contracture, Proximal muscle weakness, Distal lower limb amy... |
OMIM:609284 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Po... |
OMIM:300717 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Rimmed ... |
OMIM:612937 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Distal muscle weakness, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Spinal Muscular Atrophy, Type Ii |
|
Muscle weakness, Skeletal muscle atrophy, Spinal muscular atrophy, Degeneration of anterior horn ... |
OMIM:253550 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle hypertrophy, Gowers sign, Reduced muscle fiber alpha dystroglycan, Calf muscle pseudo... |
ORPHA:280333 |
| X-Linked Centronuclear Myopathy |
|
Fatigable weakness of bulbar muscles, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... |
ORPHA:596 |
| Nemaline Myopathy 4 |
|
Flexion contracture, Gowers sign, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bod... |
OMIM:609285 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... |
ORPHA:401768 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... |
ORPHA:276435 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... |
ORPHA:171442 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:2597 |
| Glycogen Storage Disease Ixd |
|
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... |
OMIM:300559 |
| Distal Nebulin Myopathy |
|
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Neck flexor weakn... |
ORPHA:399103 |
| Nemaline Myopathy 5 |
|
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... |
OMIM:616924 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn... |
ORPHA:424107 |
| Distal Myopathy, Tateyama Type |
|
Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... |
ORPHA:488650 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
OMIM:608807 |
| Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Late-onset proximal muscle weakness, Lower l... |
OMIM:608810 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak... |
OMIM:611307 |
| Myopathy, Distal, 3 |
|
Late-onset proximal muscle weakness, Joint contracture of the hand, Muscular dystrophy, EMG: myop... |
OMIM:610099 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Distal muscle weakness, Amyotrophic lateral sclerosis, Di... |
OMIM:602099 |
| Myopathy, Myofibrillar, 8 |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Gow... |
OMIM:617258 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Hip pain, Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyot... |
OMIM:167320 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
| Cardiomyopathy, Dilated, 1X |
|
Gowers sign, Increased variability in muscle fiber diameter, Proximal muscle weakness, Calf muscl... |
OMIM:611615 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Increased variability in muscle fiber diameter, Back pain, Achilles tendon contracture, EMG: myop... |
OMIM:300696 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Neck flexor weakness, Pro... |
OMIM:603689 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Generalized muscle weakness, Hip contracture, Spinal muscular atrophy, ... |
ORPHA:1145 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Myopathy, Fatty replacement of skeletal muscle, Exercise intolerance |
OMIM:255100 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Macroglossia, Neck muscle weakness, Muscle weakness, Increased muscle lipid content, Increased mu... |
OMIM:500009 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Proximal muscle weakness, Rhabdomyolysis, Progressive external ophthalmoplegia, Distal muscle wea... |
OMIM:617070 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 f... |
OMIM:300580 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
| Myopathy, Myofibrillar, 4 |
|
Muscle fiber splitting, Progressive proximal muscle weakness, Autophagic vacuoles, Progressive di... |
OMIM:609452 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Gowers sign,... |
ORPHA:169186 |
| Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Frequent falls |
OMIM:616227 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Myopathy, spheroid body |
|
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy |
OMIM:182920 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Fatigable weakness, Type 2 muscle fiber atrophy, Decreased miniature endplate potentials, General... |
OMIM:254210 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Short stature, Progressive muscle weakness, Rimmed va... |
OMIM:619518 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Fatigable weakness, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Decreased miniat... |
OMIM:605809 |
| Distal Myotilinopathy |
|
Multiple joint contractures, Progressive proximal muscle weakness, Abnormal muscle fiber myotilin... |
ORPHA:98911 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... |
OMIM:310440 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Proximal muscle weakness, Mu... |
OMIM:300718 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Fatigable weakness, Prolonged miniature endplate currents, Type 1 muscle f... |
OMIM:603034 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Muscle weakness, Ragged-red muscle fibers, Respiratory insufficiency due... |
OMIM:300816 |
| Nemaline Myopathy 2 |
|
Muscle fiber splitting, Flexion contracture, Proximal muscle weakness, Nemaline bodies, Arthrogry... |
OMIM:256030 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... |
ORPHA:52430 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Nemaline Myopathy 7 |
|
Knee flexion contracture, Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, ... |
OMIM:610687 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Lower limb muscle weakness, Calf muscle hypertrophy, Macroglossia, Muscle weakness, Limb-girdle m... |
OMIM:616052 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Lower limb muscle weakness, Hand muscle atrophy, Fatigable weakness, Prolonged miniature endplate... |
OMIM:601462 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Lower limb mu... |
OMIM:300695 |
| Nemaline Myopathy 10 |
|
Generalized muscle weakness, Flexion contracture, Fatty replacement of skeletal muscle, Ophthalmo... |
OMIM:616165 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy |
ORPHA:309169 |
| Nemaline Myopathy 8 |
|
Nemaline bodies, Myofibrillar myopathy, Flexion contracture, Facial palsy |
OMIM:615348 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Amyotrophic Lateral Sclerosis 18 |
|
Muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:614808 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness |
OMIM:614373 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Flexion contracture, Ophthalmoplegia, Congenital muscular dystrophy, Muscle weakness, Increased e... |
OMIM:607855 |
| Monomelic Amyotrophy |
|
Distal upper limb amyotrophy, Muscle weakness, Abnormality of peripheral nerve conduction, Degene... |
ORPHA:65684 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Distal muscle weakne... |
OMIM:602433 |
| Rigid Spine Syndrome |
|
Hip contracture, Elbow flexion contracture, Myopathy, Skeletal muscle atrophy, Hamstring contract... |
ORPHA:97244 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... |
OMIM:613157 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Prolonged miniature endplate currents, Decreased miniature endplate potentials |
OMIM:616321 |
| Oculopharyngodistal Myopathy 3 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Ophthalmoplegia, Internal... |
OMIM:619473 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Generalized muscle weakness, Ophthalmoparesis, Gowers sign, Neck muscle weakness, Weakness of fac... |
OMIM:608930 |
| Glycogen Storage Disease X |
|
Exercise-induced myalgia, Myopathy, Rhabdomyolysis, Exercise intolerance |
OMIM:261670 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Flexion contracture, Generalized amyotrophy |
OMIM:618323 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle weakness, Rimm... |
ORPHA:263494 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... |
OMIM:619566 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Calf muscle hypertrophy, Go... |
OMIM:618138 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Conjunctivitis, Oligoarthritis, Skin rash, Abdominal pain, Arthralgia, Myositis, Myalgia, Erysipe... |
OMIM:142680 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Muscle weakness, Limb muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619141 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Distal upper limb muscle weakness, Flexion contracture, Lower limb muscle weakness, Hand muscle a... |
OMIM:607684 |
| Central Core Disease |
|
Multiple joint contractures, Central core regions in muscle fibers, Type 1 muscle fiber predomina... |
ORPHA:597 |
| King-Denborough Syndrome |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Short... |
OMIM:619542 |
| Marinesco-Sjogren Syndrome |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Short stature, Progressive muscl... |
OMIM:248800 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficienc... |
OMIM:612069 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
First dorsal interossei muscle weakness, Centrally nucleated skeletal muscle fibers, Triceps weak... |
OMIM:619574 |
| Idiopathic Camptocormia |
|
Fatty replacement of skeletal muscle, Myelitis, Proximal spinal muscular atrophy, EMG: myopathic ... |
ORPHA:1320 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Knee flexion contracture, Sudden cardiac death, Elbow flexion contracture, Achilles tendon contra... |
OMIM:310300 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... |
ORPHA:169189 |
| Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... |
ORPHA:2596 |
| Pyoderma Gangrenosum |
|
Rheumatoid arthritis, Arthralgia, Myositis, Inflammation of the large intestine, Myalgia, Pustule |
ORPHA:48104 |
| Amish Nemaline Myopathy |
|
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... |
ORPHA:98902 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscular dystrophy, Ske... |
OMIM:614302 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Generalized muscle weak... |
ORPHA:75840 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type grouping, Distal lower limb muscle ... |
OMIM:619903 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Proximal muscle weakness, Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular d... |
ORPHA:34515 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Macroglossia, Myopathy, Increased muscle lipid content, Increased muscle glycogen content, Ragged... |
ORPHA:254864 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Flexion contracture, EMG: myopathic abnormalities... |
ORPHA:171439 |
| Sengers Syndrome |
|
Myopathy, Fatigue, Exercise intolerance |
OMIM:212350 |
| Genetic Recurrent Myoglobinuria |
|
Lower limb muscle weakness, Abnormality of jaw muscles, Viral infection-induced rhabdomyolysis, M... |
ORPHA:99845 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Exercise-induced myalgia, Myopathy, Skeletal muscle atrophy, Rhabdomyolysis |
OMIM:615511 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Flexion contracture, Proximal muscle weakness, Internally nucleated skeletal muscle fibers, Tibia... |
ORPHA:98905 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Myalgia, Limb-girdle muscle weakness, Myopathy, Multiple joint contractures |
ORPHA:352470 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Weakness of long finger extensor muscles, Fatigable weakness of respiratory muscles, Abnormality ... |
ORPHA:98913 |
| Oculopharyngodistal Myopathy 4 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, External op... |
OMIM:619790 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Facial diplegia, Skeletal muscle atrophy, Abnormal anteri... |
OMIM:611890 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Gowe... |
OMIM:253700 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Muscle weakness, Skeletal muscle atrophy, Amyotrophic lat... |
OMIM:105550 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Fatty replacement of skeletal muscle, Congenital muscular dystrophy, Achilles tendon contracture,... |
ORPHA:370980 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Amyotrophic Lateral Sclerosis 1 |
|
Muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of anterior... |
OMIM:105400 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Abdominal pain, Ragged-red muscle fibers, Fatigue |
OMIM:616794 |
| Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy |
ORPHA:104 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Limb-girdle muscle weakness, Gowers sign, Muscular dystrophy, Ankle flexion contracture, Hypoglyc... |
OMIM:613818 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... |
OMIM:614399 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Gowers sign, Type 1 muscle fiber predominance, Nemaline bodies, Muscle weakness, Scapular winging... |
OMIM:617336 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the calf musculature, Shoulder girdle muscle weakness, Ankle weakness, Distal uppe... |
ORPHA:600 |
| Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Ophthalmoparesis, Gowers sign, Fatigable weakness, Respiratory insufficien... |
OMIM:608931 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Myopathy, Facial palsy |
OMIM:602541 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... |
OMIM:614561 |
| Neutral Lipid Storage Disease With Myopathy |
|
Increased muscle lipid content, Myopathy, Exercise intolerance, Myalgia |
OMIM:610717 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Muscle weakness, Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Familial Isolated Dilated Cardiomyopathy |
|
Myopathy |
ORPHA:154 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Proximal muscle weakness, Generalized amyotrophy, Abnormal lower motor neuron morphology, Distal ... |
ORPHA:275872 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Proximal muscle weakness, Spinal muscular atrophy, Gowers si... |
OMIM:159950 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Generalized muscle weakness, Neck flexor weakness, Proximal muscle weakness, Late-onset distal mu... |
OMIM:161800 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Myalgia, Skeletal muscle hypertrophy, Myopathy, Macroglossia |
ORPHA:2349 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Neck flexor weakness, Calf muscle hypertrophy, Go... |
ORPHA:353 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor, Short stature |
OMIM:312910 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Myopathy, Pelvic girdle muscle weakness, Calf mus... |
ORPHA:119 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Flexion contracture, Skeletal muscle atrophy, Panniculitis |
OMIM:619183 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Progressive external ophthalmoplegia, Progressive proxima... |
ORPHA:663 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Generalized amyotrophy, Gowers sign, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic ab... |
OMIM:609560 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Limb-girdle muscle weakness, Macroglossia, Calf muscle pseudohypertrophy, Skeletal muscle atrophy... |
ORPHA:352479 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Retrocollis, Spasticity of facial muscles, Proximal muscle weakness, Distal lower limb amyotrophy... |
OMIM:205100 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Proximal muscle weak... |
OMIM:607459 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... |
ORPHA:397744 |
| Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor, Optic atrophy, Optic disc pallor |
OMIM:165300 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Hypoplasia of the musculature, A... |
OMIM:253310 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Amyotrophic Lateral Sclerosis 8 |
|
Proximal muscle weakness, Progressive muscle weakness, Distal muscle weakness, Skeletal muscle at... |
OMIM:608627 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Generalized muscle weakness, Flexion contracture, Proximal muscle weakness, Gowers sign, Muscular... |
OMIM:613723 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Muscle fiber atrophy, Facial palsy, Optic neuritis, Myopathy, Exercise intolerance, Scapular wing... |
ORPHA:254886 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Gowers sign... |
OMIM:181405 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy |
OMIM:613345 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Graft Versus Host Disease |
|
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Abdominal pain, Inflamm... |
ORPHA:39812 |
| Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Muscle weakness, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, Type ... |
OMIM:618276 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Myalgia, Exercise intolerance, Ragged-red muscle fibers |
OMIM:619024 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Back pain, Fatty replacement of skeletal muscle, Bowel incontinence, Weakne... |
ORPHA:329478 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... |
ORPHA:171881 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... |
ORPHA:57 |
| Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction veloc... |
OMIM:615368 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Flexion contracture, Multiple joint contractures, Spinal muscular atrophy, Myopathy, Arthrogrypos... |
OMIM:301830 |
| Whipple Disease |
|
Myocarditis, Arthritis, Abdominal pain, Uveitis, Arthralgia, Myositis, Myalgia, Pericarditis, Inf... |
ORPHA:3452 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Diaphr... |
OMIM:620011 |
| Adducted Thumbs Syndrome |
|
Myopathy, Arthrogryposis multiplex congenita |
OMIM:201550 |
| Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:617892 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ragged-red muscle fibers |
ORPHA:480 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Hypokalemic Periodic Paralysis |
|
Late-onset proximal muscle weakness, Fatigable weakness of respiratory muscles, Respiratory paral... |
ORPHA:681 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Generalized amyotrophy, Pelvic girdle muscle weakness, Myalgia, Myopathy, Exercise intolerance, S... |
OMIM:615156 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca, Arthralgia, Myositis, Myalgia, Per... |
ORPHA:809 |
| Nemaline Myopathy 9 |
|
Muscle weakness, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:615731 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... |
OMIM:154275 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Generalized muscle weakness, Proximal muscle weakness, Absent muscle dystrophin expression, Calf ... |
ORPHA:206546 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Spinal muscular atrophy, Chronic fatigue, Myalgia, Weakness of facial musculature, Recurrent pneu... |
ORPHA:254875 |
| Antisynthetase Syndrome |
|
Myocarditis, Skin rash, Keratoconjunctivitis sicca, Myositis, Myalgia, Chest pain |
ORPHA:81 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Generalized amyotrophy, Absent brainstem auditory responses, Type 1 muscle fiber atrophy, Type 2 ... |
OMIM:617519 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... |
ORPHA:98855 |
| Acquired Partial Lipodystrophy |
|
Myopathy, Arthralgia |
ORPHA:79087 |
| Classic Multiminicore Myopathy |
|
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Axial muscle weakness,... |
ORPHA:324604 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| Intermediate Nemaline Myopathy |
|
Generalized muscle weakness, Flexion contracture, Ophthalmoplegia, EMG: myopathic abnormalities, ... |
ORPHA:171433 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Malar rash, Skin rash, Arthralgia, Myositis, Pustule, Skeletal muscle atrophy, Pustular rash |
OMIM:615934 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Tubulointerstitial nephritis, Skin rash, Abdominal pain, Arthritis, Arthralgia, Myo... |
ORPHA:183 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... |
OMIM:616470 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Urinary in... |
OMIM:617114 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy |
ORPHA:91130 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Myopathy, Left ventricular hypertrophy, Ragged-red muscle fibers |
OMIM:540000 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscle fiber alpha dystroglycan,... |
ORPHA:206559 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... |
OMIM:620161 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Bulbar palsy, Muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Anesthetic-induced rhabdomylosis, Exercise-induced rhabdomyolysis, Viral infection-induced rhabdo... |
OMIM:154276 |
| Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Myocarditis, Osteomyelitis, Hepatitis, Skin rash, Abdominal pain, Fasciitis, Ar... |
ORPHA:36234 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:300179 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Conjunctivitis, Flexion contracture, Skin rash, Arthritis, Arthralgia, Myositis, Sinusitis, Panni... |
OMIM:617591 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Myopathy, Left ventricular hypertrophy, Fatigue, Exercise intolerance |
OMIM:617713 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Myopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:157973 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Flexion contracture |
OMIM:618237 |
| Boucher-Neuhauser Syndrome |
|
Distal amyotrophy, Abnormal upper motor neuron morphology |
OMIM:215470 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
| Myasthenic Syndrome, Congenital, 12 |
|
Fatigable weakness, Proximal amyotrophy, Facial palsy |
OMIM:610542 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Proximal muscle weakness, Limb-girdle muscle weakness, Hypoglycosylation of a... |
OMIM:615352 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Arthrogryposis mu... |
ORPHA:178148 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, Punct... |
OMIM:226670 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Abnormal motor neuron morphology |
OMIM:613724 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Myopathy, Hypoglycosylation of ... |
ORPHA:272 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... |
ORPHA:98863 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Muscle weakness, Achilles tendon contracture, Abnormal lower motor neuron morphology |
OMIM:607225 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Fatigable weakness |
OMIM:254190 |
| Pediatric Systemic Lupus Erythematosus |
|
Malar rash, Discoid lupus rash, Skin rash, Abdominal pain, Arthritis, Nephritis, Arthralgia, Myos... |
ORPHA:93552 |
| Duchenne And Becker Muscular Dystrophy |
|
Myopathy, Skeletal muscle atrophy |
ORPHA:262 |
| Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Back pain, Absent muscle fiber emerin, Elbow flexion contracture, Achilles ... |
ORPHA:98853 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Muscle weakness, Growth delay, Ragged-red muscle fibers, Respiratory insu... |
OMIM:613561 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Ophthalmoplegia, Optic atrophy, Abnormal mitochondria in muscle tissue, Shor... |
OMIM:252011 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
| Sweet Syndrome |
|
Oligoarthritis, Acne inversa, Arthralgia, Myositis, Myalgia, Pain, Inflammation of the large inte... |
ORPHA:3243 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... |
OMIM:606353 |
| Thymoma |
|
Night sweats, Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Myalgia, Ch... |
ORPHA:99867 |
| Fusariosis |
|
Maculopapular exanthema, Osteomyelitis, Bronchiectasis, Arthritis, Fasciitis, Myositis, Myalgia, ... |
ORPHA:228119 |
| Pyomyositis |
|
Myositis, Sudden cardiac death, Recurrent cutaneous abscess formation, Myalgia |
ORPHA:764 |
| Congenital Myopathy 16 |
|
Scapular winging, Flexion contracture, EMG: myopathic abnormalities |
OMIM:618524 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormalities, Myalgia,... |
OMIM:615418 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Proximal muscle weakness, Weakness of facial musculature, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:618416 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness, Respirat... |
ORPHA:2590 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Elbow flexion contrac... |
OMIM:608840 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
| Van Den Bosch Syndrome |
|
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Postexertional symptom exacerbation, Myopathy, Knee pain, Osteoarthritis |
ORPHA:166002 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy |
ORPHA:26792 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Flexion contracture, Muscle fiber atrophy, Muscular dystrophy, Congenital muscular dystrophy, Mac... |
ORPHA:258 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Rigidity, Limb dystonia... |
ORPHA:216873 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Short stature, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Generalized amyotrophy, Weakness of facial musculature, Myopathy, Exercise intolerance, Ragged-re... |
ORPHA:352447 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Fatiguable weakness of proximal limb muscles, Limb fasciculations, Tremor, Abnormality of the sev... |
ORPHA:90117 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Conjunctivitis, Skin rash, Abdominal pain, Fasciitis, Arthritis, Uveitis, Arthralgia, Myositis, M... |
ORPHA:32960 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers, Ophthalmoparesis |
OMIM:500003 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor, Enhancement of the C-reflex |
OMIM:615127 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Absent pubertal growth spurt |
ORPHA:438134 |
| Spastic Paraplegia Type 7 |
|
Optic atrophy, Lower limb muscle weakness, Optic disc pallor, Upper limb muscle weakness, Ragged-... |
ORPHA:99013 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Enhancement of the C-reflex, Giant somatosensory evoked potentials |
OMIM:601068 |
| Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Generalized amyotrophy, Lower limb muscle weakne... |
OMIM:612954 |
| Amyotrophy, Monomelic |
|
Interosseus muscle atrophy, Upper limb muscle weakness, Cold paresis, Cervical spinal cord atrophy |
OMIM:602440 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy |
OMIM:616549 |
| Juvenile Dermatomyositis |
|
Calcinosis, Skin rash, Abdominal pain, Arthritis, Arthralgia, Myositis, Myalgia, Pericarditis, Fa... |
ORPHA:93672 |
| Glycogen Storage Disease Iii |
|
Distal amyotrophy, Myopathy |
OMIM:232400 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Myalgia, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Myopathy, Rhabdomyolysis, Exercise intolerance |
OMIM:300653 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Muscle weakness, Generalized muscle weakness, Ragged-red muscle fibers, Progressive external opht... |
OMIM:613662 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Increased variability in muscle fiber diameter, Generalized muscle weakness, Flexion contracture,... |
OMIM:613327 |
| Myasthenia Gravis |
|
Myositis, Hashimoto thyroiditis, Rheumatoid arthritis, Hepatitis |
ORPHA:589 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Myopathy, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:615980 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Postexertional symptom exacerbation, Elbow flexion contracture, Left ve... |
OMIM:619040 |
| Neuronopathy, Distal Hereditary Motor, Type X |
|
Tendon rupture, Decreased compound muscle action potential amplitude, Distal lower limb muscle we... |
OMIM:620080 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Limb-girdle muscle weakness, Myopathy, Fatigue |
ORPHA:1215 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Myopathy, Fatigue, Exercise intolerance |
OMIM:613077 |
| Spastic Ataxia 2, Autosomal Recessive |
|
