Muscular Dystrophy, Congenital, With Rapid Progression |
|
Muscular dystrophy, Muscle weakness |
OMIM:254100 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Facial palsy, Scapular winging, Pel... |
OMIM:158901 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... |
OMIM:254130 |
Miyoshi Muscular Dystrophy 3 |
|
Muscular dystrophy, Distal upper limb muscle weakness, Quadriceps muscle weakness, Distal lower l... |
OMIM:613319 |
Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... |
OMIM:601846 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy, Gowers sign, Limb-girdle muscle weakness |
OMIM:616094 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... |
OMIM:613530 |
Polyglucosan Body Myopathy 2 |
|
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
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, Distal, With Rimmed Vacuoles |
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Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... |
ORPHA:399096 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... |
OMIM:618848 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Neck muscle weakness, Proximal amyotrophy, Muscular dystrophy, Proximal muscle weakness |
OMIM:612998 |
Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... |
OMIM:614807 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... |
OMIM:608807 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
Distal Myopathy With Anterior Tibial Onset |
|
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... |
ORPHA:178400 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Skeletal muscle atrophy, Proximal muscle weakness, Generalized muscle weaknes... |
OMIM:613723 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... |
OMIM:613204 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... |
OMIM:608423 |
Tibial Muscular Dystrophy, Tardive |
|
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... |
OMIM:600334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618992 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
ORPHA:2593 |
Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase concentratio... |
OMIM:253600 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy, Muscle weakness |
OMIM:253590 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies, Elevated circulating creatine kinase co... |
OMIM:616231 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Proximal muscle weakness, Quadriceps muscle ... |
OMIM:611307 |
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 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase |
OMIM:604454 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Ankle flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration... |
OMIM:613818 |
Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Myopathy, Weakness of facial... |
OMIM:617030 |
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 |
Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... |
OMIM:605820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Elevated circul... |
OMIM:604286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... |
OMIM:609452 |
Myopathy, Distal, 3 |
|
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele... |
OMIM:610099 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:620246 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... |
ORPHA:34515 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy, Generalized muscle weakness |
OMIM:613152 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy, Calf muscle hypertrophy, Scapu... |
OMIM:601287 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... |
OMIM:609115 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Foot dorsiflexor w... |
ORPHA:98912 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakne... |
OMIM:609308 |
Distal Nebulin Myopathy |
|
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Progressive distal mu... |
ORPHA:399103 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Proximal muscle weakness |
OMIM:613158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creati... |
OMIM:603511 |
Dpm3-Cdg |
|
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Elev... |
ORPHA:263494 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:160570 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform |
OMIM:302045 |
Myopathy, Centronuclear, 1 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Mildly eleva... |
OMIM:160150 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... |
OMIM:608358 |
Episodic Muscle Weakness, X-Linked |
|
Muscle weakness |
OMIM:300211 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
Muscular Dystrophy, Congenital, 1B |
|
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Diaphragmati... |
OMIM:604801 |
Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Fiber type grouping, Distal amyotrophy, Tremor |
OMIM:614369 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Scapular muscle atrophy, Proximal muscle weakness, Peroneal muscle weakness, ... |
OMIM:611588 |
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 5 |
|
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... |
OMIM:253700 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva... |
OMIM:609524 |
Amish Nemaline Myopathy |
|
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Progressive musc... |
ORPHA:98902 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... |
ORPHA:565899 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... |
OMIM:614302 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Elevate... |
OMIM:615352 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ... |
OMIM:607855 |
Distal Myopathy, Welander Type |
|
Rimmed vacuoles, Mildly elevated creatine kinase, Distal upper limb amyotrophy, Foot dorsiflexor ... |
ORPHA:603 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... |
OMIM:181400 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... |
OMIM:618823 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration |
OMIM:609500 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... |
ORPHA:457050 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph... |
ORPHA:267 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
Laing Early-Onset Distal Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... |
ORPHA:59135 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Weakness o... |
ORPHA:641 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs... |
ORPHA:1878 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers, Elevated circula... |
OMIM:616209 |
Myopathy, Myofibrillar, 2 |
|
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... |
OMIM:608810 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinase concent... |
OMIM:123320 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentra... |
OMIM:300376 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
OMIM:620375 |
Distal Myotilinopathy |
|
Distal amyotrophy, Progressive distal muscle weakness, Multiple joint contractures, Abnormal musc... |
ORPHA:98911 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... |
OMIM:611615 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... |
OMIM:605355 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... |
OMIM:616516 |
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 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Scapular winging, Achille... |
ORPHA:62 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facia... |
OMIM:619477 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Elevated circulating creatine kin... |
OMIM:616827 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle atrophy, Muscular dystrophy, Limb-girdle muscular dystrophy, Elbow flexion contra... |
OMIM:181350 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Rimmed vacuoles, Joint contracture of the hand, Progressive distal muscle weakness, Intrinsic han... |
ORPHA:399086 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Skin rash, Myopathy, Elevated c... |
ORPHA:206569 |
Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration |
ORPHA:48918 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Elevated ci... |
OMIM:500002 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Muscular dystrophy |
OMIM:254000 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Elevated circulating cr... |
OMIM:609273 |
Oculopharyngeal Muscular Dystrophy |
|
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... |
ORPHA:270 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... |
ORPHA:663 |
Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... |
OMIM:616471 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Fac... |
ORPHA:370980 |
Sandhoff Disease, Adult Form |
|
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Tremor... |
ORPHA:309169 |
Multiminicore Myopathy |
|
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... |
ORPHA:598 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... |
ORPHA:280333 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
Myositis |
|
Myositis |
OMIM:160750 |
Oculopharyngeal Muscular Dystrophy 1 |
|
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinas... |
OMIM:164300 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:613869 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Punctate keratitis... |
OMIM:226670 |
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 |
Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Eleva... |
OMIM:160565 |
Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
Desminopathy |
|
Axial muscle weakness, Distal lower limb muscle weakness, Weakness of facial musculature, Progres... |
ORPHA:98909 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Calf muscle hyper... |
ORPHA:98896 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin... |
OMIM:608840 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase... |
OMIM:615350 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Limb-girdle muscular dystrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentr... |
ORPHA:369840 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
External ophthalmoplegia, Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skel... |
OMIM:158900 |
Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
Benign Samaritan Congenital Myopathy |
|
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers |
ORPHA:324581 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Elevated circulating creati... |
OMIM:602541 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... |
OMIM:617069 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
OMIM:616924 |
Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ... |
OMIM:612954 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... |
OMIM:620068 |
Oculopharyngodistal Myopathy |
|
Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pro... |
ORPHA:98897 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase ... |
OMIM:616052 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... |
OMIM:620542 |
Bethlem Muscular Dystrophy |
|
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... |
ORPHA:610 |
Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Neck muscle weakness, Hamstrin... |
OMIM:613205 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Pneumonia, Weakness of facial musculature, Type 1 fib... |
ORPHA:596 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Muscular dystrophy, Generalized limb muscle atrophy, Elevated circulating creatine kinase concent... |
OMIM:615351 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... |
OMIM:619790 |
Myopathy, Centronuclear, 5 |
|
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, H... |
OMIM:615959 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... |
OMIM:620285 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
ORPHA:171442 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Elevated circulating creatine ... |
ORPHA:972 |
Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... |
OMIM:618654 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers |
OMIM:609283 |
Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
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 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2926 |
Myopathy, Distal, 1 |
|
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... |
OMIM:160500 |
Zebra Body Myopathy |
|
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... |
ORPHA:97240 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Hyperphosphatemia, Lower limb muscle weakness, Hypocalce... |
ORPHA:99845 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Generalized muscle weakness, Distal lower limb mus... |
ORPHA:254361 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, ... |
OMIM:613155 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, S... |
ORPHA:98905 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
Myopathy And Diabetes Mellitus |
|
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... |
ORPHA:2596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... |
OMIM:606612 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy |
ORPHA:238329 |
Papa Syndrome |
|
Crohn's disease, Myositis, Increased inflammatory response, Pustule, Arthritis, Acne |
ORPHA:69126 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
OMIM:255310 |
Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Extremely elevated creatine kinase, Mildly elevated crea... |
ORPHA:171445 |
Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... |
OMIM:617258 |
Idiopathic Camptocormia |
|
Myelitis, Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Elevated circulating... |
ORPHA:1320 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Increased ci... |
OMIM:613752 |
Merrf |
|
Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
Lipodystrophy, Familial Partial, Type 6 |
|
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... |
OMIM:615980 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
Amyotrophic Lateral Sclerosis 8 |
|
Distal amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Progre... |
OMIM:608627 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Dystonia, Athetosis, Ragged-red muscle fibers |
OMIM:615159 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Ragged-red muscle fibers, Myopathy |
OMIM:545000 |
Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... |
OMIM:254090 |
Myasthenic Syndrome, Congenital, 12 |
|
Mildly elevated creatine kinase, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy |
OMIM:610542 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Eosinophilic Fasciitis |
|
Myositis, Muscular edema, Arthritis, Fasciitis |
ORPHA:3165 |
Myopathy, Centronuclear, 2 |
|
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... |
OMIM:255200 |
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 |
Variant Abeta2M Amyloidosis |
|
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Abnormal skeletal muscl... |
ORPHA:314652 |
Mitochondrial Myopathy, Infantile, Transient |
|
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... |
OMIM:500009 |
Glycogen Storage Disease Ixd |
|
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... |
OMIM:300559 |
Autosomal Dominant Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... |
ORPHA:169189 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ... |
OMIM:617070 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... |
OMIM:619542 |
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet... |
OMIM:151800 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... |
OMIM:310440 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Elevated... |
OMIM:615368 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Muscular dystrophy, Distal lower limb muscle weakness |
ORPHA:459033 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Dystonia, Increased intramyocellular lipid droplets |
OMIM:619065 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Muscular dystrophy |
ORPHA:1875 |
Classic Multiminicore Myopathy |
|
Muscular dystrophy, Muscle fiber atrophy, Increased muscle lipid content, Multiple joint contract... |
ORPHA:324604 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... |
ORPHA:352479 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ophthalmoparesis, Skeletal muscle atrophy, Myopathy, Generalized muscle weakness, Progressive ext... |
ORPHA:254875 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Muscular dystrophy, Camptodactyly of finger, Myopathy, Hypoglycosylation of alpha-dystroglycan, F... |
ORPHA:272 |
Marinesco-Sjogren Syndrome |
|
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E... |
OMIM:248800 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... |
ORPHA:119 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... |
ORPHA:169186 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat... |
ORPHA:397744 |
Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Elevated circulating cre... |
OMIM:614399 |
Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... |
OMIM:620161 |
Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration, Left ventricular hypertro... |
OMIM:613156 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
ORPHA:75840 |
Nemaline Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... |
OMIM:256030 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... |
OMIM:619903 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Muscular dystrophy |
ORPHA:324416 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Flexion contracture, Panniculitis, Skeletal muscle atrophy |
OMIM:619183 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Miyoshi Myopathy |
|
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... |
ORPHA:45448 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... |
OMIM:607155 |
Central Core Disease |
|
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... |
ORPHA:597 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Tremor, Triceps weakness, ... |
OMIM:619574 |
Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... |
ORPHA:171439 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:615181 |
Pyoderma Gangrenosum |
|
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule |
ORPHA:48104 |
Periodic Fever, Familial, Autosomal Dominant |
|
Erysipelas, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculopapular exanthema |
OMIM:142680 |
Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... |
ORPHA:254864 |
Congenital Myopathy 24 |
|
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... |
OMIM:617336 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Hyperammonemia, Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Rha... |
OMIM:618416 |
Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Fasciitis, Acute hepati... |
ORPHA:39812 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrop... |
ORPHA:206559 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Hyperalaninemia, ... |
OMIM:617228 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Proximal muscle weakness |
OMIM:606768 |
Antisynthetase Syndrome |
|
Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconjunctivitis sic... |
ORPHA:81 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Pustular rash, Malar rash, Skin rash, Myositis, Pustule, Elevated circul... |
OMIM:615934 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness |
OMIM:300076 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Myositis, Macroglossia, Fl... |
ORPHA:258 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Paroxysmal choreoathetosis, Lingual dystonia, Ragged-red muscle fibers |
OMIM:500003 |
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 |
Muscular Dystrophy, Duchenne Type |
|
Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Elevated circulating creati... |
OMIM:310200 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... |
ORPHA:681 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progressive external op... |
OMIM:609286 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Ragged-red muscle fibers |
OMIM:616794 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Elevated circulating creatine kinase... |
ORPHA:370959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated circulating creatine... |
OMIM:616538 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hypoalbuminemia, Hepatitis, Fasciitis, Osteomyelitis, Elevated circulating creatinine ... |
ORPHA:36234 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ragged-red muscle fibers, Myopathy |
OMIM:618242 |
Marinesco-Sjögren Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:559 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... |
ORPHA:57 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Skin rash, Hypertriglyceridemia, Myositis, Arthritis, Sinusitis, Conjunctivitis, Flexion contract... |
OMIM:617591 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... |
ORPHA:353327 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Cutaneous amyloidosis |
OMIM:105250 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Skeletal muscle atrophy, Type 1 muscle fiber predominance |
OMIM:618276 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... |
OMIM:616867 |
Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:300219 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine ki... |
OMIM:609560 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita |
OMIM:619334 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Muscular dystrophy, Knee flexion contracture, Elevated circulating cre... |
OMIM:608799 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Progressive muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Proximal m... |
OMIM:620166 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... |
ORPHA:424107 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter |
OMIM:614096 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Craniofacia... |
OMIM:620011 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Tremor, Intrin... |
ORPHA:329478 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... |
OMIM:310300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Elevated circula... |
OMIM:613154 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Nemaline bodies, Myopathy |
OMIM:618246 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle weakness, Scapular ... |
OMIM:600462 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Pneumonia, Hypoalbuminemia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatiti... |
ORPHA:37042 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Athetosis |
OMIM:617235 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... |
ORPHA:1145 |
Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... |
OMIM:157640 |
Amyloidosis, Hereditary Systemic 2 |
|
Generalized amyloid deposition, Renal amyloidosis |
OMIM:105200 |
Spinocerebellar Ataxia 28 |
|
Dystonia, Ragged-red muscle fibers, Lower limb hypertonia |
OMIM:610246 |
Whipple Disease |
|
Infectious encephalitis, Myositis, Hyponatremia, Arthritis, Myocarditis, Pericarditis, Uveitis |
ORPHA:3452 |
Sweet Syndrome |
|
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... |
ORPHA:3243 |
Arts Syndrome |
|
Progressive muscle weakness |
OMIM:301835 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:615249 |
Atrial Standstill |
|
Left ventricular noncompaction, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:1344 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Malar rash, Skin rash, Myositis, Arthritis |
ORPHA:93552 |
Cap Myopathy |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... |
ORPHA:171881 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... |
OMIM:603034 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Osteoarthritis, Tendo... |
OMIM:620080 |
Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Skin rash, Myositis, Increased inflammatory response, Myocarditis, Arthritis, Sinusitis, Tubuloin... |
ORPHA:183 |
Glycogen Storage Disease Vii |
|
Increased variability in muscle fiber diameter, Increased total bilirubin, Gout, Hyperuricemia, E... |
OMIM:232800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Eleva... |
OMIM:613150 |
Mixed Connective Tissue Disease |
|
Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Pericarditis |
ORPHA:809 |
Fusariosis |
|
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A... |
ORPHA:228119 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... |
OMIM:607459 |
Myasthenia Gravis |
|
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis |
ORPHA:589 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Muscle fiber atrophy, Increased muscle lipid co... |
ORPHA:228302 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... |
OMIM:617519 |
Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Hypoplasia of the musculature, Weakness of muscles of respiration, Sho... |
ORPHA:2020 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Type 2 muscle fiber predominance, Tremor |
OMIM:619028 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, Elevated c... |
ORPHA:32960 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Muscle weakness |
OMIM:254950 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Progres... |
ORPHA:368 |
Pyomyositis |
|
Myositis, Recurrent cutaneous abscess formation |
ORPHA:764 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Abnormal circulating homocysteine concen... |
ORPHA:88618 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Upper limb muscle weakness, Lower limb muscle weakness, Hand muscle atrophy, Intrinsic hand muscl... |
OMIM:601462 |
Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... |
ORPHA:171436 |
Intermediate Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... |
ORPHA:171433 |
Infantile Refsum Disease |
|
Progressive muscle weakness, Facial palsy |
ORPHA:772 |
Thymoma |
|
Myositis, Rheumatoid arthritis, Glomerulonephritis, Ulcerative colitis |
ORPHA:99867 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... |
OMIM:620565 |
Juvenile Dermatomyositis |
|
Skin rash, Elevated circulating creatine kinase concentration, Myositis, Arthritis, Calcinosis, E... |
ORPHA:93672 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Upper limb postural tremor, Ragged-red muscle fibers |
ORPHA:477774 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... |
ORPHA:178148 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Mildly elevated creatine... |
OMIM:258450 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulat... |
ORPHA:254886 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... |
ORPHA:52430 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Muscular dystrophy |
OMIM:300200 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Type 2 muscle fiber atrophy, Facial palsy, Arthro... |
OMIM:608931 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... |
OMIM:615418 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Progressive muscle weakness, Congenital diaphragmatic hernia, Muscle weakness |
OMIM:615919 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Limb muscle weakness, Weakness of facial musculature, Type 2 muscle fiber atrophy, Facial palsy, ... |
OMIM:608930 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98855 |
Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy... |
OMIM:255125 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... |
OMIM:181405 |
Aa Amyloidosis |
|
Renal amyloidosis, Amyloidosis |
ORPHA:85445 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy |
OMIM:605809 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
Microsporidiosis |
|
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Osteomyelitis, Infectious encephalitis... |
ORPHA:2552 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Progressive external ophthalmoplegia, Progressive muscle weakness, Limb muscle weakness, Facial p... |
OMIM:610131 |
Dpm1-Cdg |
|
Camptodactyly, Muscular dystrophy, Knee flexion contracture, Elevated circulating creatine kinase... |
ORPHA:79322 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:620240 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Proximal amyotrophy... |
OMIM:615084 |
Acys Amyloidosis |
|
Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy |
OMIM:254210 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture, Axial dystonia |
OMIM:619026 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Left ventricular noncompaction, Ragged-red muscle fibers, Increased intramyocellular lipid drople... |
OMIM:252011 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... |
OMIM:619461 |
Dk1-Cdg |
|
Progressive muscle weakness |
ORPHA:91131 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... |
OMIM:616866 |
Neutral Lipid Storage Myopathy |
|
Rimmed vacuoles, Gowers sign, Shoulder girdle muscle weakness, Generalized limb muscle atrophy, N... |
ORPHA:98908 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
Idiopathic Trachyonychia |
|
Amyloidosis |
ORPHA:79153 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... |
ORPHA:99013 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98863 |
Pparg-Related Familial Partial Lipodystrophy |
|
Myopathy, Hyperuricemia, Pancreatitis, Hypertriglyceridemia, Abnormality of skeletal muscle fiber... |
ORPHA:79083 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Hashimoto thyroiditis, Proximal amyotrophy, Type 2 muscle fiber atrophy, Mildly elevated creatine... |
OMIM:159400 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Myopathy, Pancreatitis, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal... |
ORPHA:2348 |
Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:261 |
Walker-Warburg Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal circulating c... |
ORPHA:899 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98853 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... |
ORPHA:98913 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo... |
ORPHA:600 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concentration, Weakness ... |
ORPHA:352447 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Limb dystonia, Type 1 muscle fiber predominance, Hip contracture, Type... |
ORPHA:319514 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:253800 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy |
OMIM:540000 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Progressive muscle weakness, Ragged-red muscl... |
OMIM:607426 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ... |
OMIM:619424 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Myopathy, Progressive muscle weakness, Respiratory insufficiency due to ... |
OMIM:615512 |
Behçet Disease |
|
Recurrent aphthous stomatitis, Infectious encephalitis, Myositis, Increased inflammatory response... |
ORPHA:117 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Rhabdomyolysis, Progressive muscle weakness, Limb-girdle muscle weakness... |
ORPHA:79240 |
Glycogen Storage Disease Xv |
|
Type 1 muscle fiber predominance, Scapular winging |
OMIM:613507 |
Amyloidosis, Finnish Type |
|
Generalized amyloid deposition, Renal glomerular amyloid deposition, Cardiac amyloidosis |
OMIM:105120 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
Optic Atrophy 11 |
|
Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Facial diplegia,... |
OMIM:617302 |
Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Hyperbilirubinemia, Cholecystitis, Myopathy, Redu... |
OMIM:611881 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Chronic otitis media, Type 1 muscle fiber predomi... |
OMIM:612949 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Muscular dystrophy |
ORPHA:300751 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Interosseus muscle atrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Fibe... |
OMIM:500013 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Elevated circulati... |
OMIM:616479 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Arm dystonia, Distal amyotrophy, Skeletal muscle atrophy, Upper-limb joint contracture, Muscle fi... |
ORPHA:300605 |
Amyloidosis, Hereditary Systemic 1 |
|
Amyloidosis |
OMIM:105210 |
Aapoaiv Amyloidosis |
|
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Renal amyloidosis, Cardiac amyloidosis |
ORPHA:439232 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration |
ORPHA:158684 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Increased serum pyruvate, Myopathy |
OMIM:604377 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Mildly elevated creatine kinase, Weakness of faci... |
ORPHA:502423 |
Primary Sjögren Syndrome |
|
Arteritis, Parotitis, Chronic active hepatitis, Lymphocytic interstitial pneumonia, Myositis, Opt... |
ORPHA:289390 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Ragged-red muscle fibers |
ORPHA:1349 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
Dermatomyositis |
|
Heliotrope rash, Inflammatory myopathy, Skin rash, Elevated circulating creatine kinase concentra... |
ORPHA:221 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:614643 |
Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle... |
OMIM:164310 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase... |
OMIM:616239 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ... |
OMIM:617675 |
Native American Myopathy |
|
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... |
ORPHA:168572 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Increased sarcoplasmic glycogen, Progressive muscle weakness, Skeletal muscle atrophy |
ORPHA:264580 |
Neu-Laxova Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2671 |
Aicardi-Goutières Syndrome |
|
Chilblains, Multiple joint contractures, Myositis, Arthritis, Panniculitis |
ORPHA:51 |
Glycerol Kinase Deficiency |
|
Muscular dystrophy, Chronic pancreatitis, Myopathy, Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormality of the extraocular muscles, Myositis, Keratoconjunctivitis sicca, Tubulointerstitial ... |
ORPHA:79078 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Tbck-Related Intellectual Disability Syndrome |
|
Macroglossia, Progressive muscle weakness, Diastasis recti, Skeletal muscle atrophy |
ORPHA:488632 |
Severe Congenital Nemaline Myopathy |
|
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Abno... |
ORPHA:171430 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Shoulder girdle muscle weakness, Myopathy, Increased intramyocellular lipid droplets, Progressive... |
ORPHA:98907 |
Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Rheumatoid arthriti... |
ORPHA:206572 |
Danon Disease |
|
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Elevated c... |
OMIM:300257 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Muscular dystrophy, Congenital contracture, Elevated circulating creatine kinase concentration |
OMIM:236670 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Lower limb muscle weakness, Flexion contracture, Generalized muscle weakness, Diaphragmatic weakn... |
ORPHA:365 |
Polymyositis |
|
Elevated circulating creatine kinase concentration, Pericarditis, Arthritis, Abnormal muscle fibe... |
ORPHA:732 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Amyloidosis |
ORPHA:98849 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Rimmed vacuoles, Inflammatory abnormality of the skin, Abnormality of the shoulder girdle muscula... |
ORPHA:565612 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Progressive muscle weakness, Skeletal muscle atrophy, Distal muscle weakness |
OMIM:256810 |
Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Elevated circulating creatine kinase concentration, Wrist flexion contr... |
OMIM:618733 |
Hypotonia-Cystinuria Syndrome |
|
Facial palsy, Ragged-red muscle fibers |
OMIM:606407 |
Marden-Walker Syndrome |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... |
ORPHA:2461 |
Familial Mediterranean Fever |
|
Renal amyloidosis, Amyloidosis |
OMIM:249100 |
Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Macroglossia, Torticollis |
OMIM:617022 |
Q Fever |
|
Amyloidosis |
ORPHA:781 |
Alkaptonuria |
|
Tendon rupture, Thickened Achilles tendon, Amyloidosis |
ORPHA:56 |
Tetrasomy 9P |
|
Myositis, Glue ear, Arthritis, Pericarditis |
ORPHA:3310 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis |
OMIM:301220 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Rhabdomyolysis |
ORPHA:449285 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Foot dorsiflexor weakness, Ragged-red muscle fibers, Decreased muscle mass, Abnormality of the ex... |
ORPHA:298 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Congenital contracture, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Type 2 mus... |
OMIM:619036 |
Mosaic Variegated Aneuploidy Syndrome |
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Muscular dystrophy, Rhabdomyosarcoma |
ORPHA:1052 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:615287 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Abnormal muscle fiber morphology, Lower limb muscle weakness, Hypomagnesemi... |
ORPHA:79102 |
Kearns-Sayre Syndrome |
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Ragged-red muscle fibers |
OMIM:530000 |
Myotonic Dystrophy 2 |
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Sternocleidomastoid amyotrophy, Weakness of facial musculature, Type 2 muscle fiber atrophy, Gene... |
OMIM:602668 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers... |
ORPHA:17 |
Familial Mediterranean Fever |
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Amyloidosis |
ORPHA:342 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Dystonia, Ragged-red muscle fibers |
OMIM:614924 |
Congenital Myasthenic Syndrome |
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Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
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Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... |
ORPHA:98914 |
Combined Oxidative Phosphorylation Deficiency 58 |
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Ragged-red muscle fibers, Exaggerated startle response |
OMIM:620451 |
Multiple Endocrine Neoplasia, Type Iia |
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Cutaneous lichen amyloidosis |
OMIM:171400 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Resting tremor, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Limb muscle weakness... |
ORPHA:254892 |
Lambert-Eaton Myasthenic Syndrome |
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Progressive proximal muscle weakness |
ORPHA:43393 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Distal amyotrophy, Ragged-red muscle fibers, Allodynia |
OMIM:603041 |
Attrv122I Amyloidosis |
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Tendon rupture, Left ventricular hypertrophy, Cardiac amyloidosis |
ORPHA:85451 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
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Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb muscle weakness, EMG... |
ORPHA:1900 |
Multiple Endocrine Neoplasia Type 2 |
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Cutaneous lichen amyloidosis, Proximal amyotrophy |
ORPHA:653 |
Inherited Creutzfeldt-Jakob Disease |
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Amyloidosis of peripheral nerves |
ORPHA:282166 |
Familial Mediterranean Fever, Autosomal Dominant |
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Renal amyloidosis |
OMIM:134610 |
Familial Cold Autoinflammatory Syndrome 1 |
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Renal amyloidosis |
OMIM:120100 |
Muckle-Wells Syndrome |
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Renal amyloidosis, Camptodactyly of finger |
ORPHA:575 |
Muckle-Wells Syndrome |
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Renal amyloidosis |
OMIM:191900 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Dystonia, Ragged-red muscle fibers |
ORPHA:255210 |
Melas |
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Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue |
ORPHA:550 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Increased intramyocellular lipid droplets, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:252010 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... |
ORPHA:268 |
Choreoacanthocytosis |
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Blepharospasm, Peroneal muscle atrophy, Distal amyotrophy, Resting tremor, Laryngeal dystonia, Mu... |
ORPHA:2388 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:124000 |
Singleton-Merten Syndrome 1 |
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Tendon rupture, Muscle fiber atrophy |
OMIM:182250 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Flexion contracture, Renal amyloidosis, Foot joint contracture |
ORPHA:79408 |
Lysinuric Protein Intolerance |
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Renal amyloidosis, Hepatic amyloidosis |
ORPHA:470 |