Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... |
OMIM:611369 |
Inclusion Body Myositis |
|
Dysphagia, Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Dysphagia, Skeletal muscle fibrosis, Rimmed vacuoles, Increased... |
ORPHA:34516 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
Vacuolar Neuromyopathy |
|
Dysphagia, Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nuclea... |
OMIM:601846 |
Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... |
OMIM:615424 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy |
OMIM:609524 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Dysphagia, Autophagic vacuoles, Hip flexor weakness, Facial hypoto... |
ORPHA:266 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Dysphagia, Facial palsy, Shoulder girdle muscle weakness, Rimmed v... |
OMIM:603511 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... |
ORPHA:178464 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... |
OMIM:500002 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... |
OMIM:619477 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... |
OMIM:618940 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Dysphagia, Ragged-red muscle fibers, EMG: myopathic abno... |
ORPHA:276435 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Dysphagia, Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variabil... |
ORPHA:399058 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... |
OMIM:609200 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... |
OMIM:617072 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Myofibrillar Myopathy 11 |
|
Dysphagia, Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopath... |
OMIM:619178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... |
ORPHA:97240 |
Oculopharyngodistal Myopathy 3 |
|
Dysphagia, Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal mu... |
OMIM:619473 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Weakness of lon... |
OMIM:160500 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Neuromuscular dysphagia, ... |
ORPHA:171442 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities |
OMIM:609283 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Myopathy, Myofibrillar, 2 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... |
OMIM:608810 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting |
OMIM:618129 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... |
ORPHA:399086 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... |
OMIM:619042 |
Nemaline Myopathy 2 |
|
Dysphagia, Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Li... |
OMIM:256030 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Flexion contracture, Rimmed vacuoles |
OMIM:300696 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... |
ORPHA:488650 |
Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... |
OMIM:160150 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... |
OMIM:616924 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... |
OMIM:610099 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Dysphagia, Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... |
OMIM:603689 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles |
OMIM:617760 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... |
OMIM:618823 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mu... |
OMIM:619334 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... |
OMIM:615422 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... |
OMIM:612937 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... |
ORPHA:98911 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting |
OMIM:609452 |
Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles |
ORPHA:263494 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Shoulder girdle muscle atrophy, Sh... |
OMIM:167320 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... |
OMIM:123320 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... |
ORPHA:86812 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Dysphagia, Skeletal muscle atrophy, Limb muscle weakness... |
OMIM:613954 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies |
OMIM:605637 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... |
ORPHA:98902 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content |
OMIM:611556 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Myopathy, Myofibrillar, 7 |
|
Dysphagia, Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skel... |
OMIM:617114 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... |
ORPHA:437572 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
Salih Myopathy |
|
Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta... |
OMIM:611705 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl... |
ORPHA:254864 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Multiple joint co... |
ORPHA:597 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... |
ORPHA:353327 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Laing Early-Onset Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... |
ORPHA:59135 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... |
OMIM:253700 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers |
ORPHA:663 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Dysphagia, Facial palsy, Muscle fiber a... |
ORPHA:254886 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... |
ORPHA:98905 |
Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Myopathy, Dysphagia, Skeletal muscle atrophy, Myositis, ... |
ORPHA:206569 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Dysphagia, Facial palsy, Type 1 fibers relatively smaller than type 2 fib... |
OMIM:255310 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... |
OMIM:618484 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content |
OMIM:610717 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Dysphagia, Ragged-red muscle fibers |
ORPHA:477774 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Dysphagia, Limb muscle weakness, Achilles tendon contractu... |
OMIM:617258 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Skeletal muscle atrophy, Increased muscle glycogen content |
ORPHA:371 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dysphagia, Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abnorma... |
OMIM:258450 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... |
ORPHA:596 |
Spastic Paraplegia Type 7 |
|
Dysphagia, Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb muscle weakness, Lowe... |
ORPHA:99013 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... |
ORPHA:57 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... |
OMIM:181405 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy |
OMIM:617066 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98855 |
Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Neona... |
OMIM:253310 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Centrally nucleated skeletal muscle fibers, Increased vari... |
ORPHA:401768 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intramyocellular lipi... |
OMIM:252011 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Ragged-red muscle fibers, Dysphagia, Weakness of facial musculature, Generalized amyotr... |
ORPHA:352447 |
Myopathy, Centronuclear, 2 |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... |
OMIM:255200 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Torticollis, Generalized amyotrophy, Facial palsy, Congenital muscula... |
OMIM:254090 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... |
ORPHA:171881 |
Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Ge... |
ORPHA:324604 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis |
OMIM:602199 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Centrally nucleated skeletal m... |
OMIM:616812 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Death in infancy, Flexion contracture, Congenital con... |
OMIM:615368 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:261 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Dysphagia, Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Shoulder ... |
ORPHA:600 |
Autosomal Recessive Centronuclear Myopathy |
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Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Dysphagia, Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy,... |
OMIM:157640 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
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Dysphagia, Triceps weakness, Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle f... |
OMIM:619574 |
Myotubular Myopathy With Abnormal Genital Development |
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Centrally nucleated skeletal muscle fibers, Myopathy, Death in infancy, Neonatal death |
OMIM:300219 |
King-Denborough Syndrome |
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Minicore myopathy, Weakness of facial musculature, Muscle fiber atrophy, Centrally nucleated skel... |
OMIM:619542 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Dysphagia, Generalized amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Diap... |
OMIM:616866 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
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Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab... |
OMIM:615418 |
Marinesco-Sjogren Syndrome |
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Myopathy, Skeletal muscle atrophy, Rimmed vacuoles, Flexion contracture, Centrally nucleated skel... |
OMIM:248800 |
Greig Cephalopolysyndactyly Syndrome |
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Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
Autosomal Dominant Centronuclear Myopathy |
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Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... |
ORPHA:169189 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
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Dysphagia, Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness |
OMIM:609286 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in m... |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis 21 |
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Dysphagia, Shoulder girdle muscle weakness, Rimmed vacuoles |
OMIM:606070 |
Snakebite Envenomation |
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Neuromuscular dysphagia, Muscle fiber necrosis, Pseudobulbar paralysis, Rhabdomyolysis |
ORPHA:449285 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis |
ORPHA:228302 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
Juvenile Amyotrophic Lateral Sclerosis |
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Contractures of the joints of the upper limbs, Dysphagia, Skeletal muscle atrophy, Contractures o... |
ORPHA:300605 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Death in early adulthood, Ragged-red muscle fibers, Distal amyotrophy |
OMIM:603041 |
Oculopharyngodistal Myopathy 1 |
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Dysphagia, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Incr... |
OMIM:164310 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in muscle fiber diameter |
OMIM:607459 |
Overlap Myositis |
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Distal lower limb muscle weakness, Perifascicular muscle fiber atrophy, Proximal muscle weakness ... |
ORPHA:206572 |
Ehlers-Danlos Syndrome, Classic-Like |
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Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Dysphagia, Absent muscle fiber merosin, Myositis, Macroglossia, Facial palsy, Congenital muscular... |
ORPHA:258 |
Neutral Lipid Storage Myopathy |
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Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness, Myopathy, I... |
ORPHA:98908 |
Polymyositis |
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Abnormal muscle fiber morphology |
ORPHA:732 |
Neuromuscular Oculoauditory Syndrome |
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EMG: myopathic abnormalities, Knee flexion contracture, Wrist flexion contracture, Muscle fiber n... |
OMIM:618733 |
Native American Myopathy |
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Abnormality of skeletal muscle fiber size, Skeletal muscle atrophy, Arthrogryposis multiplex cong... |
ORPHA:168572 |
Triglyceride Deposit Cardiomyovasculopathy |
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Increased muscle lipid content, Skeletal myopathy, Abnormality of the shoulder girdle musculature... |
ORPHA:565612 |
Thyrotoxic Periodic Paralysis |
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Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower limb muscle we... |
ORPHA:79102 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
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Distal amyotrophy |
OMIM:607831 |