| Exercise Intolerance, Riboflavin-Responsive |
|
Exercise intolerance, Ragged-red muscle fibers |
OMIM:616839 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... |
OMIM:607641 |
| Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... |
ORPHA:2593 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... |
OMIM:617030 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Myalgia, Inflammatory myopa... |
ORPHA:611 |
| Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness |
OMIM:616231 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... |
OMIM:158600 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... |
OMIM:609115 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... |
OMIM:613530 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
| Nemaline Myopathy 6 |
|
Nemaline bodies, Exercise intolerance, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, F... |
OMIM:609273 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... |
ORPHA:603 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy |
OMIM:183020 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... |
OMIM:160150 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Distal muscle weakness |
OMIM:604454 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness |
OMIM:614807 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Short stature, Facial palsy, N... |
OMIM:616209 |
| Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... |
OMIM:611067 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... |
OMIM:615422 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:620246 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia, Weakness of facia... |
OMIM:619477 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:618848 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance, Muscle weakness |
OMIM:616304 |
| Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... |
OMIM:500002 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness |
OMIM:147421 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, D... |
OMIM:164300 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Fiber type grouping, Distal amyotrophy, Distal muscle weakness |
OMIM:614369 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Muscular dystrophy, Lower limb muscle weakness, Myositis, Proximal amyotrophy, Scapular winging, ... |
OMIM:253600 |
| Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Gowers sign, Intrauterine growth retardation, Proxima... |
OMIM:255200 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... |
ORPHA:178145 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Chest pain, Myalgia, Skin rash,... |
ORPHA:206569 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy |
OMIM:208100 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Muscle weakness |
ORPHA:247604 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... |
OMIM:618940 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Decreased motor ... |
OMIM:620068 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... |
OMIM:614065 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620138 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, EMG:... |
OMIM:253601 |
| 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 |
| Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology |
ORPHA:270 |
| Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... |
ORPHA:97240 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... |
OMIM:610542 |
| Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Bethlem Myopathy 1A |
|
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... |
OMIM:158810 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
| Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness |
OMIM:614750 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Proximal muscle weakness... |
OMIM:255310 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Optic Atrophy 2 |
|
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Distal Myopathy With Anterior Tibial Onset |
|
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... |
ORPHA:178400 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... |
OMIM:609283 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Fatigue, Abnormal muscle fiber morp... |
OMIM:123320 |
| Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
| Acetyl-Coa Carboxylase-Alpha Deficiency |
|
Myopathy |
OMIM:613933 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... |
OMIM:160565 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Generalized weakness of limb muscles, Abnormal peripheral nervous system synaptic transmission, T... |
ORPHA:353327 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Spinal Muscular Atrophy, Type Iii |
|
Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu... |
OMIM:253400 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy |
OMIM:606768 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy |
OMIM:616471 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... |
OMIM:618654 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Optic... |
ORPHA:401768 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy |
ORPHA:565899 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Eosinophilic Fasciitis |
|
Fasciitis, Myalgia, Myositis, Muscular edema, Arthralgia, Fatigue, Arthritis |
ORPHA:3165 |
| Papa Syndrome |
|
Crohn's disease, Myositis, Increased inflammatory response, Pustule, Arthralgia, Fatigue, Arthrit... |
ORPHA:69126 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Distal muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, B... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, B... |
OMIM:616437 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Myalgia, Foot d... |
OMIM:619216 |
| Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
| Myositis |
|
Myositis |
OMIM:160750 |
| Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Hip contracture, Proximal muscle weakness, Weakness o... |
OMIM:615959 |
| Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Neck muscle weakness,... |
OMIM:160500 |
| Adult-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Upper limb muscle weakness, Lowe... |
ORPHA:171442 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Focal Myositis |
|
Myositis, Myalgia |
ORPHA:48918 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... |
OMIM:617069 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy |
OMIM:160570 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Ankle flexion contracture, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles,... |
ORPHA:399081 |
| Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... |
OMIM:609285 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Amyotrophic lateral sclerosis, Distal muscle weakness |
OMIM:611895 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Decreased comp... |
OMIM:603511 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Progressive distal muscle weakness, Intrinsic han... |
ORPHA:399086 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy |
ORPHA:2579 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... |
OMIM:300717 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... |
ORPHA:596 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Skeletal muscle atrophy, Muscle weakness, Spinal muscular at... |
OMIM:253550 |
| Congenital Myopathy 4B, Autosomal Recessive |
|
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... |
OMIM:609284 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... |
OMIM:617258 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Split hand... |
OMIM:610099 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy, Decreased muscle mass |
OMIM:607091 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... |
ORPHA:280333 |
| Distal Nebulin Myopathy |
|
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Progressive distal mu... |
ORPHA:399103 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... |
ORPHA:169186 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Distal amyotrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Respira... |
OMIM:602099 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... |
OMIM:167320 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... |
ORPHA:424107 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Myalgia, Quadriceps muscle atrophy, Calf mus... |
OMIM:611307 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... |
OMIM:608807 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
| Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy |
ORPHA:366 |
| Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... |
OMIM:611615 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... |
OMIM:300580 |
| Myasthenic Syndrome, Congenital, 15 |
|
Frequent falls, Fatigable weakness |
OMIM:616227 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ... |
OMIM:608340 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Type 2 mus... |
OMIM:254210 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Limb muscle weakness, Fatigabl... |
OMIM:605809 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... |
OMIM:617070 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... |
OMIM:609452 |
| Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Ataxia |
OMIM:616330 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... |
ORPHA:52430 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Fatigabl... |
OMIM:603034 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers, Hypertrophied mus... |
OMIM:500009 |
| Distal Myotilinopathy |
|
Distal amyotrophy, Progressive distal muscle weakness, Multiple joint contractures, Abnormal musc... |
ORPHA:98911 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Calf muscle hypertrophy, Hypoglycosyl... |
OMIM:616052 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Nemaline Myopathy 7 |
|
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f... |
OMIM:610687 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
| Duane Anomaly-Myopathy-Scoliosis Syndrome |
|
Myopathy |
ORPHA:50817 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
| Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Exercise intolerance, Fatty replacement of skeletal muscle, Myopathy |
OMIM:255100 |
| Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness |
ORPHA:309169 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... |
ORPHA:663 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Upper limb muscle weakness, Lower limb muscle weakness, Fatigable weakness, Hand muscle atrophy, ... |
OMIM:601462 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Ulnar claw, Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Distal... |
OMIM:607684 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... |
OMIM:300695 |
| Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Myalgia, EMG: myopathic abnormalities, Back pain, Weakne... |
ORPHA:171445 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Muscle weakness, Respiratory insufficiency due... |
OMIM:300816 |
| Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, P... |
OMIM:248800 |
| Mitochondrial Myopathy, Lethal, Infantile |
|
Myopathy |
OMIM:551000 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
| Rigid Spine Syndrome |
|
Pneumonia, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contra... |
ORPHA:97244 |
| Nemaline Myopathy 8 |
|
Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy |
OMIM:615348 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ragged-red muscle fibers, Myopathy |
OMIM:618242 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Muscle weakness, Amyotrophic lateral sclerosis |
OMIM:614808 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t... |
ORPHA:75840 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness |
OMIM:614373 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Monomelic Amyotrophy |
|
Muscle weakness, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Degene... |
ORPHA:65684 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... |
OMIM:602433 |
| Nemaline Myopathy 10 |
|
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Generalized muscle weakness, Op... |
OMIM:616165 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Prolonged miniature endplate currents, Decreased miniature endplate potentials |
OMIM:616321 |
| Glycogen Storage Disease X |
|
Exercise intolerance, Rhabdomyolysis, Exercise-induced myalgia, Myopathy |
OMIM:261670 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Flexion contracture, Myopathy, Generalized amyotrophy |
OMIM:618323 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619141 |
| Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... |
ORPHA:59135 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Nemaline Myopathy 2 |
|
Hand clenching, Increased variability in muscle fiber diameter, Limb muscle weakness, Generalized... |
OMIM:256030 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hand clenching, Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Facial diplegia,... |
OMIM:611890 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Erysipelas, Myalgia, Skin rash, Myositis, Arthralgia, Oligoarthritis, Conjunctivitis, Abdominal p... |
OMIM:142680 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Triceps weakness, Intrinsi... |
OMIM:619574 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Central Core Disease |
|
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Central... |
ORPHA:597 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Ophthalmoparesis, Neck muscle weakness, Limb muscle weakness, Weakness of facial musculature, Gen... |
OMIM:608930 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Elbow flexion contracture, Myopathy, Decreased cervical spine flexion du... |
OMIM:310300 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Myopathy And Diabetes Mellitus |
|
Sternocleidomastoid amyotrophy, Exercise intolerance, Weakness of orbicularis oculi muscle, Shoul... |
ORPHA:2596 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Exercise intolerance, Nemaline bodies, Generalize... |
ORPHA:171439 |
| Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... |
ORPHA:263494 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... |
OMIM:607855 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy |
OMIM:551500 |
| Myopathy Due To Myoadenylate Deaminase Deficiency |
|
Rhabdomyolysis, Skeletal muscle atrophy, Exercise-induced myalgia, Myopathy |
OMIM:615511 |
| Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... |
ORPHA:98913 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... |
ORPHA:254864 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
| Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... |
ORPHA:98902 |
| Idiopathic Camptocormia |
|
Myelitis, Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Myositis, Fatty repl... |
ORPHA:1320 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... |
OMIM:614302 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... |
OMIM:613205 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Myalgia, Myositis, Pustule, Arthralgia |
ORPHA:48104 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Myalgia, Limb-girdle muscle weakness, Multiple joint contractures, Myopathy |
ORPHA:352470 |
| Familial Isolated Dilated Cardiomyopathy |
|
Fatigue, Myopathy |
ORPHA:154 |
| Heart-Hand Syndrome, Slovenian Type |
|
Myopathy |
OMIM:610140 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Myalgia, Facial diplegia, Foot dorsiflexor weakness, EMG: ... |
ORPHA:329478 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... |
OMIM:619903 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Myositis, Type 2 muscle fibe... |
ORPHA:99845 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Muscle weakness, Amyotrophic lat... |
OMIM:105550 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, External ophthalmoplegia, Proximal muscle weaknes... |
ORPHA:98905 |
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Muscle weakness, Degeneration of anterior... |
OMIM:105400 |
| Congenital Myopathy 24 |
|
Nemaline bodies, Type 1 muscle fiber predominance, Talipes equinovarus, Scapular winging, Gowers ... |
OMIM:617336 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... |
ORPHA:34515 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Fatty repla... |
ORPHA:397744 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Abnormal motor nerve con... |
OMIM:614399 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Muscle weakness, Amyotrophic lateral sclerosis, Respiratory insufficienc... |
OMIM:612069 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... |
OMIM:619790 |
| Bethlem Muscular Dystrophy |
|
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... |
ORPHA:610 |
| Leber Hereditary Optic Neuropathy |
|
Myopathy |
ORPHA:104 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy, Myalgia, Myopathy |
ORPHA:369840 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of ... |
OMIM:613818 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... |
OMIM:620285 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Myalgia, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2349 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Ankle weakness, ... |
ORPHA:600 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Abdominal pain, Fatigue, Ragged-red muscle fibers |
OMIM:616794 |
| Isolated Glycerol Kinase Deficiency |
|
Myopathy |
ORPHA:408 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular ... |
OMIM:181405 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Pelvic girdle muscle weakness, Calf muscle hypert... |
ORPHA:119 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Proximal muscle weakness, Abnormal lower motor neuron mor... |
ORPHA:275872 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Proximal m... |
OMIM:159950 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Myopathy |
OMIM:230450 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Type 2 musc... |
OMIM:608931 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... |
ORPHA:352479 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Flexion contracture, Panniculitis, Skeletal muscle atrophy |
OMIM:619183 |
| Spastic Paraparesis And Deafness |
|
Short stature, Spastic paraparesis, Tremor |
OMIM:312910 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Nemaline bodies, Late-onset distal muscle weakness, Type 1 muscle fiber predominance, Limb muscle... |
OMIM:161800 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
| Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
| Hypokalemic Periodic Paralysis |
|
Episodic flaccid weakness, Respiratory paralysis, Increased intramyocellular lipid droplets, Abno... |
ORPHA:681 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Arthrogryposis multiplex congenita, Hypoplasia of the mus... |
OMIM:253310 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal upper motor n... |
OMIM:205100 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Amyotrophic Lateral Sclerosis 8 |
|
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Proximal muscle weakne... |
OMIM:608627 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy |
ORPHA:1369 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| X-Linked Immunoneurologic Disorder |
|
Myopathy |
ORPHA:2571 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Exercise intolerance, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopa... |
ORPHA:254886 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Myalgia, Exercise-induced rhabdomyolysis, Skeletal m... |
ORPHA:57 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Myalgia, Facial diplegia, Proximal a... |
ORPHA:370980 |
| Diaphragmatic Hernia 5, X-Linked |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Respiratory insufficiency due to... |
OMIM:609560 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Muscle weakness, Respiratory insuffici... |
OMIM:618276 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Exercise intolerance, Myalgia, Ragged-red muscle fibers |
OMIM:619024 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Skeletal muscle atrophy, Generalized muscle weakness, Proximal muscle weaknes... |
OMIM:613723 |
| Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Fasciitis, Acute hepati... |
ORPHA:39812 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Exercise intolerance, Shoulder girdle muscle weakness, Myalgia, Myopathy, Pelvic girdle muscle we... |
OMIM:615156 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrop... |
OMIM:607459 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Talipes equin... |
OMIM:611588 |
| Antisynthetase Syndrome |
|
Chest pain, Myalgia, Skin rash, Myositis, Arthralgia, Keratoconjunctivitis sicca, Arthritis, Myoc... |
ORPHA:81 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Exercise intolerance, Recurrent pneumonia, Skeletal muscle atrophy, Myalgia, Myopathy, Spinal mus... |
ORPHA:254875 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the shoulder girdle muscula... |
ORPHA:206546 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Talipes equ... |
OMIM:620011 |
| Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, Flexion contract... |
OMIM:615368 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Myopathy, Spinal muscular atrophy, Flexion contracture, Facial palsy... |
OMIM:301830 |
| Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Myopathy |
OMIM:201550 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Fatiguable weakness o... |
ORPHA:171881 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:617892 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Whipple Disease |
|
Uveitis, Chest pain, Myalgia, Infectious encephalitis, Myositis, Arthralgia, Fatigue, Arthritis, ... |
ORPHA:3452 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Myopathy |
OMIM:602541 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Myopathy, Generalized limb muscle atrophy |
ORPHA:2598 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... |
OMIM:154275 |
| Acquired Partial Lipodystrophy |
|
Arthralgia, Myopathy |
ORPHA:79087 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98855 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... |
OMIM:620161 |
| Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene... |
ORPHA:171433 |
| Mixed Connective Tissue Disease |
|
Chest pain, Myalgia, Skin rash, Myositis, Gastritis, Arthralgia, Fatigue, Keratoconjunctivitis si... |
ORPHA:809 |
| Kearns-Sayre Syndrome |
|
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Punctate keratitis... |
OMIM:226670 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Pustular rash, Malar rash, Skin rash, Myositis, Pustule, Arthralgia |
OMIM:615934 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myalgia, Skin rash, Myositis, Increased inflammatory response, Myocarditis, Arthralgia, Fatigue, ... |
ORPHA:183 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... |
OMIM:617519 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Myopathy |
OMIM:618237 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy |
ORPHA:91130 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:300179 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy |
OMIM:540000 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Bulbar palsy, Muscle weakness, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Skeletal muscle atrophy, Myopathy |
ORPHA:157973 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Anesthetic-induced rhabdomylosis, Alcohol-induced rhabdomyolysis, Exercise-induced rhabdomyolysis... |
OMIM:154276 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... |
ORPHA:178148 |
| Classic Multiminicore Myopathy |
|
Muscular dystrophy, Muscle fiber atrophy, Intermittent episodes of respiratory insufficiency due ... |
ORPHA:324604 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Distal amyotrophy |
OMIM:215470 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Fatigable weakness of skeletal muscles, Reduced muscle fiber alph... |
ORPHA:206559 |
| Hypophosphatasia, Childhood |
|
Myopathy |
OMIM:241510 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Myalgia, Recurrent skin infections, Pain, Skin ra... |
ORPHA:36234 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Calf mu... |
OMIM:609308 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Skin rash, Myositis, Arthralgia, Arthritis, Sinusitis, Conjunctivitis, Flexion contracture, Panni... |
OMIM:617591 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Myopathy |
OMIM:618236 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Muscular dystrophy, Camptodactyly of finger, Myopathy, Hypoglycosylation of alpha-dystroglycan, F... |
ORPHA:272 |
| Glutamate-Cysteine Ligase Deficiency |
|
Myopathy |
ORPHA:33574 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98863 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Fatigable weakness |
OMIM:254190 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Chest pain, Malar rash, Skin rash, Myositis, Arthralgia, Arthritis... |
ORPHA:93552 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, General... |
ORPHA:352447 |
| Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98853 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Muscle weakness, Achilles tendon contracture |
OMIM:607225 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Lower limb muscle weakness, Respiratory insufficiency due... |
ORPHA:2590 |
| Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Abnormal upper motor neuron morphology, Decreased compound muscle a... |
OMIM:606353 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Proxima... |
OMIM:615352 |
| Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... |
OMIM:616053 |
| Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors, Scapular winging |
ORPHA:3417 |
| Congenital Myopathy 16 |
|
Flexion contracture, EMG: myopathic abnormalities, Scapular winging |
OMIM:618524 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Proximal muscle weakness, Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature |
OMIM:618416 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Growth delay, Muscle ... |
OMIM:613561 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Left ventricular noncompaction, Ragged-red muscle fibers, Ophthalmoplegia, Increas... |
OMIM:252011 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Exercise intolerance, Skeletal muscle atrophy, Myalgia, Ragged-red muscle fibers, Left ventricula... |
OMIM:615418 |
| Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ... |
OMIM:612954 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Calf muscle hypertr... |
OMIM:608840 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Myopathy |
ORPHA:26792 |
| Thymoma |
|
Rheumatoid arthritis, Chest pain, Myalgia, Night sweats, Myositis, Glomerulonephritis, Ulcerative... |
ORPHA:99867 |
| Fusariosis |
|
Pneumonia, Keratitis, Fasciitis, Chest pain, Osteomyelitis, Myalgia, Maculopapular exanthema, Myo... |
ORPHA:228119 |
| Pyomyositis |
|
Myositis, Myalgia, Sudden cardiac death, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Acne inversa, Myalgia, Predominantly dermal neutrophilic inf... |
ORPHA:3243 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... |
ORPHA:216873 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus |
OMIM:616921 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Knee pain, Osteoarthritis, Myopathy, Postexertional symptom exacerbation |
ORPHA:166002 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Fatigue, Myopathy |
OMIM:613077 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Abnormal motor nerve conduction velocity, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise intolerance, Rhabdomyolysis, Myopathy |
OMIM:300653 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia |
ORPHA:438134 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Myositis, Macroglossia, Fl... |
ORPHA:258 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy |
OMIM:170400 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ophthalmoparesis, Ragged-red muscle fibers |
OMIM:500003 |
| Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Talipes equinovarus, Pro... |
OMIM:151800 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Enhancement of the C-reflex, Myoclonus, Tremor |
OMIM:615127 |
| Glycogen Storage Disease Iii |
|
Distal amyotrophy, Myopathy |
OMIM:232400 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Enhancement of the C-reflex, Giant somatosensory evoked potentials, Tremor |
OMIM:601068 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... |
OMIM:617284 |
| Sengers Syndrome |
|
Exercise intolerance, Fatigue, Sudden cardiac death, Myopathy |
OMIM:212350 |
| Spastic Paraplegia Type 7 |
|
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, ... |
ORPHA:99013 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Nemaline bodies, Flexion contracture, Myopathy |
OMIM:616549 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Muscular dystrophy, Muscle weakness |
OMIM:254100 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Hemiballismus, Tremor |
ORPHA:494526 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Erysipelas, Fasciitis, Chest pain, Myalgia, Skin rash, Orchitis, Myositis, Peritonitis, ... |
