Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dysferlin
Synonyms:
2310004N10Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dysf mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Dysf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy, Muscle weakness OMIM:254100
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Facial palsy, Scapular winging, Beevor's sign, Foot dorsiflexor weakness, Pelvic girdle muscle we... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:601954
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Calf mu... OMIM:613319
Miyoshi Muscular Dystrophy 1
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated ... OMIM:254130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Gowers sign, Limb-girdle muscle weakness OMIM:616094
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Elevated circulating creatine kinase concentration, Weakness of the intrinsi... OMIM:620286
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Abnormal circulating acylcarnitine concentration, Elevated circ... OMIM:620235
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Scapular winging, Elevated circulati... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:613530
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Muscle fiber inclusion bodies, Muscle fiber polyglucosan inclusion bodi... OMIM:616199
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Elevated circulating creatine kinase concentratio... OMIM:615424
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Progressive muscle we... ORPHA:399096
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... OMIM:617158
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Proximal muscle weakness, Muscular dystrophy, Proximal amyotrophy, Neck muscle weakness OMIM:612998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, F... OMIM:618848
Spinal Muscular Atrophy, Type Iv
Hand tremor, Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necr... OMIM:271150
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Elevated circulating creatine kinase concentration, Mu... OMIM:609200
Distal Myopathy With Anterior Tibial Onset
Progressive proximal muscle weakness, Absent muscle fiber dysferlin, Weakness of the intrinsic ha... ORPHA:178400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Generalized muscle weakness, Gowers sign, Flexion contracture, Skeletal muscl... OMIM:613723
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Elevated circulating ... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentrat... OMIM:608807
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cr... OMIM:253601
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal circulatin... OMIM:614807
Tibial Muscular Dystrophy
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Ce... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Facial palsy, EMG: myopathic abnormalities, El... OMIM:254110
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Muscle eosinophilia, Myositis, Facial palsy, Scapular winging, Elevated circu... OMIM:253600
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Elevated circulating creatine kinase concentration, Increased va... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Elevated circulating creatine concentration, Rimmed vacuoles, Scapular wingin... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Quadrice... OMIM:611307
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Hand muscle weakness... OMIM:614321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopa... OMIM:618992
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Elevated circulating creatine kinase concentration, Increas... OMIM:612999
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, EMG: myopathic abnormaliti... OMIM:600334
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Centrally nucleate... OMIM:615422
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Elevated circulating creatine kinase co... OMIM:616231
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Ankle flexion contracture, Hypoglycosylation of alpha-dystroglycan, Elevated ... OMIM:613818
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Progressive muscle weakness, Progressive proximal muscle weakness, Autoph... OMIM:609452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Elevated circulating creatin... OMIM:604286
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Rimmed vacuoles, We... OMIM:617030
Welander Distal Myopathy
Mildly elevated creatine kinase, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Spinal muscular atrophy, Proxim... OMIM:158600
Nonaka Myopathy
Distal lower limb muscle weakness, Deposits immunoreactive to beta-amyloid protein, Distal amyotr... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Elevated circulating creatine kinase concentration, Inc... OMIM:618129
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine k... ORPHA:611
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, Gowers sign, Calf muscle hypertrophy, Scapular winging, Proximal amyotrophy, ... OMIM:601287
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Elevated circulating c... ORPHA:34515
Myopathy, Distal, 3
Muscular dystrophy, Distal amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Mildly elev... OMIM:610099
Congenital Myopathy 18
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:620246
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Ankle weakness, Generalized muscle weakness, Progressive... ORPHA:98912
Distal Nebulin Myopathy
Neck flexor weakness, Ankle flexion contracture, Progressive proximal muscle weakness, EMG: myopa... ORPHA:399103
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated circulat... OMIM:609115
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Proximal muscle weakness OMIM:613158
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Elevated ci... OMIM:609308
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Muscular dystrophy, Rimmed vacuoles, Facial palsy, Elevated circulating c... OMIM:603511
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Incr... OMIM:617760
Dpm3-Cdg
Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Elevated creatine kinase after exer... ORPHA:263494
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Gne Myopathy
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... ORPHA:602
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Myopathy, Scapulohumeroperoneal
Progressive muscle weakness, Scapular winging, Facial palsy, Nemaline bodies, Increased variabili... OMIM:616852
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Ragged-red muscle fibers, Scapular winging, Muscle fiber tubular inclus... OMIM:616228
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Neck muscle weakness, Muscle fiber inclusion bodies, Facial ... ORPHA:399058
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration... OMIM:618940
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc... OMIM:608358
Muscular Dystrophy, Congenital, 1B
Muscular dystrophy, Diaphragmatic weakness, Gowers sign, Facial palsy, Pectoralis amyotrophy, Ste... OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Peroneal muscle weakness, Progressive muscle weakness, Skeletal muscle hypert... OMIM:611588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Elevated circulating creatine kinase concentration... OMIM:617072
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Tremor, Fiber type grouping OMIM:614369
Amish Nemaline Myopathy
Progressive muscle weakness, Shoulder flexion contracture, EMG: myopathic abnormalities, Hip cont... ORPHA:98902
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... ORPHA:178464
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Neck muscle weakness, Increased variability in muscle fiber diameter, Proxima... OMIM:614302
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Skeletal m... ORPHA:565899
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Elevated circulating creatine kinase concentration, Muscle fiber cytoplas... OMIM:609524
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elevated circulating cr... OMIM:613157
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase... OMIM:615352
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Muscular dystrophy, Increased endomysial conn... OMIM:607855
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... OMIM:181400
Distal Myopathy, Welander Type
Distal upper limb amyotrophy, Rimmed vacuoles, EMG: myopathic abnormalities, Intrinsic hand muscl... ORPHA:603
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Muscular dystrophy, Ankle flexion contracture, Generalized muscle weakness, Calf muscle hypertrop... ORPHA:267
Laing Early-Onset Distal Myopathy
Neck muscle weakness, Progressive muscle weakness, Weakness of orbicularis oculi muscle, EMG: myo... ORPHA:59135
Multifocal Motor Neuropathy
Weakness of long finger extensor muscles, Progressive distal muscle weakness, Progressive muscle ... ORPHA:641
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abnormalities, Elevate... ORPHA:266
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers, Fatty replacement o... OMIM:618823
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Autophagic vacuoles, Myopathy OMIM:609500
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Muscular dystrophy, Neck muscle weakness, Late-onset proximal muscle weak... OMIM:608810
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Weakness of facial mu... ORPHA:457050
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Calf muscle hypertrophy, Triceps weakness, Elevated circulating creatine kina... ORPHA:86812
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:1878
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Proxi... OMIM:616209
Distal Myotilinopathy
Distal amyotrophy, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Abnormal m... ORPHA:98911
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentra... OMIM:300376
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Proximal muscle weakness in upper limbs, Abnormal circulating creatine kinase concentration, Lowe... OMIM:620375
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:123320
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Progressive muscle weakness, Shoulder flexion contracture, Nema... OMIM:605355
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... OMIM:611615
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Muscular dystrophy, Increased LDL cholesterol concentration, Elbow flexion ... OMIM:616516
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Elevated circulating creatine kinase concentration, L... OMIM:620386
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Scapular winging, Achilles tendon... ORPHA:62
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Increased variability ... OMIM:620138
Finnish Upper Limb-Onset Distal Myopathy
Amyotrophy of ankle musculature, Rimmed vacuoles, Progressive proximal muscle weakness, EMG: myop... ORPHA:399086
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Muscular dystrophy, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Lower limb amyotrophy... OMIM:620402
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... OMIM:611705
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:616827
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300717
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal ... OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Li... OMIM:616812
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Skin rash, Scapular winging, EMG: myopathic abnormalities, Muscle fiber ne... ORPHA:206569
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration ORPHA:48918
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Aspiration pneumonia, Angulated muscle fibers, Weakness of facial musculature, ... OMIM:619477
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Progressive proximal muscle weakness, Abnormal mitochondria in muscle t... ORPHA:663
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakness of orbicularis ocu... OMIM:500002
Nemaline Myopathy 6
Facial palsy, Elevated circulating creatine kinase concentration, Nemaline bodies, Limb muscle we... OMIM:609273
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Increased variability in mu... OMIM:616471
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Fatty replacement of skeletal muscle, Limb-girdle muscle atrophy, Facial dipl... ORPHA:370980
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Muscular dystrophy OMIM:254000
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Rimmed vacuoles, Elevated circulating creatine kinase concentration, Ab... ORPHA:270
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Sandhoff Disease, Adult Form
Tremor, Upper limb muscle weakness, Focal dystonia, Muscle fiber atrophy, Dystonia, Proximal musc... ORPHA:309169
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... OMIM:619042
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Elevated circu... ORPHA:280333
Multiminicore Myopathy
Muscular dystrophy, Proximal muscle weakness in upper limbs, Minicore myopathy, Abnormal muscle f... ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus... OMIM:612937
Myositis
Myositis OMIM:160750
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613869
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Limb ... OMIM:164300
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:618484
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Neck flexor weakness, Generalized limb muscle atrophy, Ty... OMIM:620249
Desminopathy
Neck flexor weakness, Fatigable weakness of respiratory muscles, Distal lower limb muscle weaknes... ORPHA:98909
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Punctate keratitis, Increased variability in muscle f... OMIM:226670
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Weakness of the intrinsic hand muscles, Incre... OMIM:160565
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Increased variability in mus... OMIM:300718
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Duchenne Muscular Dystrophy
Progressive muscle weakness, Calf muscle hypertrophy, Flexion contracture, Skeletal muscle atroph... ORPHA:98896
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ele... OMIM:300696
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Elbow flexion contractu... OMIM:608840
Proximal Myopathy With Extrapyramidal Signs
Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Centrally nuclea... ORPHA:401768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613151
Facioscapulohumeral Muscular Dystrophy 1
External ophthalmoplegia, Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Scapular wi... OMIM:158900
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
Muscular dystrophy, Abnormal circulating creatine kinase concentration, Muscle fiber atrophy, Lim... ORPHA:369840
Myopathy, Myofibrillar, 6
Muscular dystrophy, Generalized muscle weakness, Diaphragmatic paralysis, Facial palsy, Scapular ... OMIM:612954
Oculopharyngodistal Myopathy
Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim... ORPHA:98897
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Increased e... OMIM:602541
Bethlem Muscular Dystrophy
Gowers sign, Progressive proximal muscle weakness, Wrist flexion contracture, Distal muscle weakn... ORPHA:610
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... OMIM:616924
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb amy... OMIM:620068
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Elevated circulating creatine kinase concentration, S... OMIM:617069
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy, Congenital, Lmna-Related
Proximal upper limb amyotrophy, Muscular dystrophy, Poor head control, Neck muscle weakness, Uppe... OMIM:613205
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Elevated circ... OMIM:603689
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Calf muscle hypertrophy, Scapular winging, Lower limb mu... OMIM:616052
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:620542
Congenital Myopathy 20
Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in muscle fiber ... OMIM:620310
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Limb muscle weakness, Increased variability in muscle fiber diamete... ORPHA:486815
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Centrally n... ORPHA:596
Amyotrophic Lateral Sclerosis 27, Juvenile
Progressive muscle weakness, Generalized muscle weakness, Gowers sign, Scapular winging, Intrinsi... OMIM:620285
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Lower ... OMIM:620452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dystroglycan, Ele... OMIM:615351
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:620265
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Calf muscle hypertrophy, EMG: myopathic abnormalities, Elevated circ... OMIM:255160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle... OMIM:618138
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Tremor, Increased variability... 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, Rimmed vacuoles, Skeletal muscle autophagosome accumu... OMIM:619518
Adult-Onset Nemaline Myopathy
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... ORPHA:171442
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Distal amyotrophy, Rimmed vacuoles, Scapular winging, Facial palsy, Progressive proximal muscle w... OMIM:167320
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness OMIM:619024
Congenital Myopathy 14
Knee flexion contracture, Abnormal circulating creatine kinase concentration, Elbow flexion contr... OMIM:618414
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Elevated circulating creatine ... ORPHA:972
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Elevated circula... OMIM:619473
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Genetic Recurrent Myoglobinuria
Hyperkalemia, Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Myositis, Hypo... ORPHA:99845
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Myopathy, Distal, 1
Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis anterior muscle atrophy, Am... OMIM:160500
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Zebra Body Myopathy
Muscle fiber splitting, Torticollis, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnorma... ORPHA:97240
Myopathy And Diabetes Mellitus
Progressive proximal muscle weakness, Weakness of orbicularis oculi muscle, Skeletal myopathy, St... ORPHA:2596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Elevated circulating creatine kinase c... OMIM:613155
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Elevated... OMIM:606612
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Rimmed vacuoles, Elevated circulating creatine kinase concentr... OMIM:606070
Papa Syndrome
Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increased inflammatory response ORPHA:69126
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Muscular dystrophy, Hyperlipidemia, Elevated circulatin... OMIM:615980
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy ORPHA:238329
Idiopathic Camptocormia
Fatty replacement of skeletal muscle, Myelitis, Myositis, EMG: myopathic abnormalities, Elevated ... ORPHA:1320
Myopathy, Myofibrillar, 8
Central core regions in muscle fibers, Joint contracture of the 5th finger, Scapular winging, Ele... OMIM:617258
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Scapul... ORPHA:171445
Amyotrophic Lateral Sclerosis 8
Progressive muscle weakness, Distal amyotrophy, Distal muscle weakness, Proximal amyotrophy, Skel... OMIM:608627
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased variability in muscle fiber diameter, Increased circulating creatine k... OMIM:613752
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... OMIM:255310
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Eosinophilic Fasciitis
Myositis, Arthritis, Muscular edema, Fasciitis ORPHA:3165
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Congenital contracture, Increased variability in... OMIM:605637
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers, Athetosis, Dystonia OMIM:615159
Variant Abeta2M Amyloidosis
Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Cardiac amyloidosis, Abnormal skeletal m... ORPHA:314652
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Increased serum pyruvate, Myopathy OMIM:545000
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet... OMIM:151800
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance, Facial palsy ORPHA:178145
Myopathy, Centronuclear, 2
Facial palsy, Scapular winging, EMG: myopathic abnormalities, Generalized amyotrophy, Centrally n... OMIM:255200
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Proximal amyotrophy, Facial palsy, Mildly elevated creatine kinase OMIM:610542
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Decreased circulating carnitine concentration, Ragged-red musc... OMIM:500009
King-Denborough Syndrome
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M... OMIM:619542
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, Abnormality of the foot muscula... ORPHA:169189
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Glycogen Storage Disease Ixd
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Distal amyotr... OMIM:300559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Rhabdomyolysis, Skeletal muscle atrophy, Elevated circulating creatine ... OMIM:617070
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn... ORPHA:353
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Generalized muscle weakness, Bulbar palsy, Progressive proximal muscle weakness, Spinal muscular ... ORPHA:254875
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... OMIM:615368
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Distal lower limb muscle weakness ORPHA:459033
Myopathy, X-Linked, With Excessive Autophagy
Muscle fiber necrosis, Elevated circulating creatine kinase concentration, Skeletal muscle autoph... OMIM:310440
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Dystonia, Increased intramyocellular lipid droplets OMIM:619065
Autosomal Recessive Centronuclear Myopathy
Progressive muscle weakness, Gowers sign, Facial diplegia, Facial palsy, Scapular winging, Genera... ORPHA:169186
Classic Multiminicore Myopathy
Muscular dystrophy, Generalized amyotrophy, Muscle fiber atrophy, Right ventricular hypertrophy, ... ORPHA:324604
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy ORPHA:1875
Marinesco-Sjogren Syndrome
Rimmed vacuoles, Elevated circulating creatine kinase concentration, Centrally nucleated skeletal... OMIM:248800
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Hypoglycosylation of alph... ORPHA:352479
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con... ORPHA:272
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Increased variabilit... ORPHA:119
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Limb... OMIM:613954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Facial palsy, Elevated circulating creatine kina... OMIM:613156
Congenital Myopathy 10A, Severe Variant
Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Elevated circulating creatine ... OMIM:614399
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Increased variability i... ORPHA:397744
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Decreased circulating ferritin concentration ORPHA:330054
Myeloma, Multiple
Amyloidosis OMIM:254500
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber type grouping, Angulat... OMIM:608340
Congenital Myopathy 23
Facial diplegia, Scapular winging, Nemaline bodies, Limb muscle weakness, Skeletal muscle atrophy... OMIM:609285
Congenital Myopathy 15
Camptodactyly, Increased variability in muscle fiber diameter, Weakness of facial musculature, Fa... OMIM:620161
Nemaline Myopathy 2
Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vacuoles, EMG: myopathic abnormalit... OMIM:256030
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Elevated circulating creati... ORPHA:75840
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Miyoshi Myopathy
Distal lower limb muscle weakness, Tibialis anterior muscle atrophy, Calf muscle hypertrophy, Dis... ORPHA:45448
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type ... OMIM:619903
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Muscular dystrophy ORPHA:324416
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Panniculitis, Flexion contracture, Skeletal muscle atrophy OMIM:619183
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Increased serum pyruvate, Skeletal muscle atrophy OMIM:300816
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:607155
Central Core Disease
Type 1 muscle fiber predominance, Pelvic girdle muscle weakness, Abnormal circulating creatine ki... ORPHA:597
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Triceps weakness, Intrinsic hand muscle atrophy, Centrally nucleated skeletal muscle fibe... OMIM:619574
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Facial diplegia, Scapular winging, EMG: myopathic abnormalities,... ORPHA:171439
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis ORPHA:48104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615181
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Erysipelas, Conjunctivitis, Maculopapular exanthema, Oligoarthritis OMIM:142680
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band... OMIM:617114
Myopathy, Distal, With Anterior Tibial Onset
Elevated circulating creatine kinase concentration, Myopathy OMIM:606768
Graft Versus Host Disease
Gastrointestinal inflammation, Dupuytren contracture, Inflammatory abnormality of the eye, Myosit... ORPHA:39812
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Decreased circulating carnitine concentration, Ragged-red musc... ORPHA:254864
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Congenital Myopathy 24
Type 1 muscle fiber predominance, Facial palsy, Scapular winging, Nemaline bodies, Abnormal circu... OMIM:617336
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Hyperammonemia, Rha... OMIM:618416
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Calf muscle hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... ORPHA:206559
Antisynthetase Syndrome
Myocarditis, Myositis, Arthritis, Skin rash, Elevated circulating creatine kinase concentration, ... ORPHA:81
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness OMIM:300076
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Myositis, Malar rash, Skin rash, Pustular ... OMIM:615934
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hyperalaninemia, ... OMIM:617228
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Myositis, Facial palsy, Muscle fiber atrophy, Flexion contracture, Absent mus... ORPHA:258
Congenital Myopathy 22A, Classic
Ragged-red muscle fibers, Scapular winging, Congenital finger flexion contractures, Limb muscle w... OMIM:620351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive muscle weakness, Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Elevated circulating ... OMIM:310200
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Lingual dystonia, Paroxysmal choreoathetosis OMIM:500003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy OMIM:613153
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Nemaline Myopathy 5C, Autosomal Dominant
Pelvic girdle muscle weakness, Scapular winging, Nemaline bodies, Achilles tendon contracture, Sk... OMIM:620389
Bacterial Toxic-Shock Syndrome
Myocarditis, Myositis, Hypocalcemia, Skin rash, Arthritis, Elevated circulating creatine kinase c... ORPHA:36234
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Hypoglycosylation... ORPHA:370959
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia, Abnormal muscle fiber morphology, Increase... ORPHA:681
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske... OMIM:616867
Marinesco-Sjögren Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter, Elevated circulating creatine... OMIM:616538
Amyloidosis, Primary Localized Cutaneous, 1
Cutaneous amyloidosis OMIM:105250
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Panniculitis, Myositis, Arthritis, Skin rash, Sinusitis, Flexion contractur... OMIM:617591
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Increased serum pyruvate OMIM:616794
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Ankle flexion contracture, Patent ductus arteriosus, Elevated circulating cre... OMIM:608799
Congenital Myasthenic Syndromes With Glycosylation Defect
Ragged-red muscle fibers, Scapular winging, Facial palsy, Muscle fiber tubular inclusions, Genera... ORPHA:353327
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, EMG: myopathic abnormalities, Elevated creatine kinase after exercise, Skeletal myo... ORPHA:57
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Type 1 muscle fiber predominance, Skeletal muscle atrophy, Dystonia OMIM:618276
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Muscular Dystrophy, Congenital, With Or Without Seizures
Proximal muscle weakness, Hypoglycosylation of alpha-dystroglycan, Progressive muscle weakness, M... OMIM:620166
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:609560
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Skeletal muscle hypertrophy, Elevated circulating creat... OMIM:613327
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Gastritis, Myositis, Hypocalcemia, Thyroiditis, Decreased circulating prealbumin conce... ORPHA:37042
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Progressive muscle weakness, Ragged-red muscle fibers, Gowers si... OMIM:600462
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Plantar flexion contracture, Craniofacial dystonia, Fiber type grouping, Skeletal muscle atrophy,... OMIM:620011
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita, Nemaline bodies OMIM:619334
Adult-Onset Distal Myopathy Due To Vcp Mutation
Abnormality of the musculature of the lower limbs, Necrotizing myopathy, Rimmed vacuoles, Facial ... ORPHA:329478
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Scapular winging, EMG: myopathic abnormalities, Minicore myopat... ORPHA:424107
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Increased endomysial conn... OMIM:613154
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Progressive muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities... OMIM:157640
Amyloidosis, Familial Visceral
Generalized amyloid deposition, Renal amyloidosis OMIM:105200
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Myopathic Ehlers-Danlos Syndrome
Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus... ORPHA:536516
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Elbow flexion c... ORPHA:1145
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid concentration, Elev... ORPHA:228302
Whipple Disease
Myocarditis, Myositis, Arthritis, Hyponatremia, Pericarditis, Infectious encephalitis, Uveitis ORPHA:3452
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia, Dystonia OMIM:610246
Sweet Syndrome
Panniculitis, Elevated circulating C-reactive protein concentration, Myositis, Predominantly derm... ORPHA:3243
Arts Syndrome
Progressive muscle weakness OMIM:301835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:615249
Pediatric Systemic Lupus Erythematosus
Myositis, Arthritis, Skin rash, Discoid lupus rash, Malar rash, Nephritis ORPHA:93552
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myositis, Arthritis, Skin rash, Sinusitis, Endocarditis, Increased inflammatory resp... ORPHA:183
Atrial Standstill
Flexion contracture, Muscular dystrophy, Left ventricular noncompaction, Skeletal muscle atrophy ORPHA:1344
Mixed Connective Tissue Disease
Myocarditis, Gastritis, Myositis, Arthritis, Skin rash, Pericarditis, Keratoconjunctivitis sicca ORPHA:809
Myasthenic Syndrome, Congenital, 5
Limb muscle weakness, Decreased muscle mass, Type 1 muscle fiber predominance, Myopathy, Type 2 m... OMIM:603034
Glycogen Storage Disease Vii
Increased muscle glycogen content, Hyperuricemia, Elevated circulating creatine kinase concentrat... OMIM:232800
Fusariosis
Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiectasis, Sinusitis, Keratitis,... ORPHA:228119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentrati... OMIM:613150
Myasthenia Gravis
Myositis, Hashimoto thyroiditis, Hepatitis, Rheumatoid arthritis ORPHA:589
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... OMIM:616503
Congenital Fiber-Type Disproportion Myopathy
Poor head control, Ankle flexion contracture, Progressive muscle weakness, Weakness of facial mus... ORPHA:2020
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl... OMIM:607459
Cap Myopathy
Lower limb amyotrophy, Facial palsy, Increased variability in muscle fiber diameter, Generalized ... ORPHA:171881
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Scapular winging, Tendon rupture, Fiber type grouping, Osteoar... OMIM:620080
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Facial palsy, Generali... OMIM:617519
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin rash, Pericardit... ORPHA:32960
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Progressive p... ORPHA:368
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Muscle weakness OMIM:254950
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Abnormal circulating homocysteine concentration, Abnormal circulating methion... ORPHA:88618
Juvenile Dermatomyositis
Calcinosis, Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin rash... ORPHA:93672
Infantile Refsum Disease
Facial palsy, Progressive muscle weakness ORPHA:772
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Tremor OMIM:619028
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Elevated circulating C-reactive protein concentration, Myositis, Minimal change glomerulonephriti... OMIM:620565
Pyomyositis
Myositis, Recurrent cutaneous abscess formation ORPHA:764
Typical Nemaline Myopathy
Facial diplegia, Facial palsy, Elevated circulating creatine kinase concentration, Nemaline bodie... ORPHA:171436
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis ORPHA:99867
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Intrinsic hand muscle atrophy, Hand muscle atrophy, Type 2 muscle fib... OMIM:601462
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult... ORPHA:171433
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor ORPHA:477774
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Limb-girdle muscular dystrophy, Myopathy ORPHA:369847
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Elev... OMIM:258450
Autosomal Recessive Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Optic neuritis, Scapular winging, Facial palsy, Elevated circulating cr... ORPHA:254886
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration... ORPHA:52430
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Joint contracture, Progressive muscle weakness, Muscle weakness OMIM:615919
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Fl... ORPHA:178148
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Adrenal Hypoplasia, Congenital
Muscular dystrophy, Hyponatremia OMIM:300200
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Decreased muscle mass, Skeletal muscle atrophy, Arthrogryposis multiplex congenita,... OMIM:608931
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con... ORPHA:98855
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive muscle weakness, Progressive external ophthalmoplegia, Facial palsy, Limb muscle weak... OMIM:610131
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Ragged-red muscle fibers, Hyperalaninemia, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:615418
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Limb muscle weakness, Weakness of facial musculature, Arthrogryposis multiplex cong... OMIM:608930
Microsporidiosis
Myocarditis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Thyroiditis, Keratoconjunctivitis,... ORPHA:2552
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:255125
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness OMIM:605809
Dpm1-Cdg
Muscular dystrophy, Elevated circulating creatine kinase concentration, Camptodactyly, Knee flexi... ORPHA:79322
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at... OMIM:620278
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Elevated circulating creatine kinase concentration, Gener... OMIM:615084
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Elevated circulating creatine kinase concentration, Muscle fiber atrophy, Flexion contracture OMIM:620240
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... OMIM:616866
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Dystonia, Flexion contracture, ... OMIM:252011
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Axial dystonia OMIM:619026
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy OMIM:254210
Dk1-Cdg
Progressive muscle weakness ORPHA:91131
Neutral Lipid Storage Myopathy
Generalized limb muscle atrophy, Neck muscle weakness, Gowers sign, Rimmed vacuoles, Progressive ... ORPHA:98908
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Increased variabi... OMIM:619461
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Walker-Warburg Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:899
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con... ORPHA:98863
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Pancreatitis, Abnormality of skeletal muscle fiber size, Hyperuricemia, Ske... ORPHA:79083
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Hypertriglyceridemia, Decreased cervical spine flexion due to con... ORPHA:98853
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Abnormality of masticatory muscle, Triceps weakness, Upper limb muscle weakn... ORPHA:98913
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Pancreatitis, Abnormality of skeletal muscle fiber size, Skeletal muscle hy... ORPHA:2348
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Lower limb hypertonia, Upper limb muscle weakness, Lower limb muscle we... ORPHA:99013
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Generalized amyotro... ORPHA:352447
Myasthenia, Limb-Girdle, Autoimmune
Mildly elevated creatine kinase, Hashimoto thyroiditis, Proximal amyotrophy, Type 2 muscle fiber ... OMIM:159400
Vocal Cord And Pharyngeal Distal Myopathy
Distal upper limb amyotrophy, Rimmed vacuoles, Mildly elevated creatine kinase, Abnormality of th... ORPHA:600
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Progressive muscle weakness, Decreased level of coenzyme Q10 in skeleta... OMIM:607426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:253800
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Limb dystonia, Lower limb hypertonia, Hip contracture, Choreoathetosis... ORPHA:319514
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy OMIM:540000
Triosephosphate Isomerase Deficiency
Progressive muscle weakness, Respiratory insufficiency due to muscle weakness, Skeletal muscle at... OMIM:615512
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Progressive muscle weakness, Limb-girdle muscle weakness, Rhabdomyolysis, Skeletal muscle atrophy... ORPHA:79240
Behçet Disease
Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis, Increased infla... ORPHA:117
Amyloidosis, Finnish Type
Cardiac amyloidosis, Renal glomerular amyloid deposition, Generalized amyloid deposition OMIM:105120
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ... OMIM:619424
Optic Atrophy 11
Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Fiber type group... OMIM:617302
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Scapular winging OMIM:613507
Glycogen Storage Disease Xii
Muscle fiber splitting, Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creat... OMIM:611881
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Chronic otitis media, Increased variability in muscle fiber diameter, 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
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Fiber type grouping, Thenar musc... OMIM:500013
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulating creatine kinase concentra... OMIM:616479
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Retrocollis, Lower-limb joint contracture, Axial dystonia, Distal amyotro... ORPHA:300605
Aapoaiv Amyloidosis
Cardiac amyloidosis, Renal interstitial amyloid deposits, Cutaneous amyloidosis, Renal amyloidosis ORPHA:439232
Primary Sjögren Syndrome
Arteritis, Chronic active hepatitis, Myositis, Optic neuritis, Thyroiditis, Arthritis, Parotitis,... ORPHA:289390
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture 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 muscle glycogen content, Weakness of facial musculature, EMG: myopathic abnormalities, ... ORPHA:502423
Dermatomyositis
Myocarditis, Inflammatory myopathy, Myositis, Arthritis, Skin rash, EMG: myopathic abnormalities,... ORPHA:221
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Increased serum pyruvate ORPHA:1349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:614643
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Oculopharyngodistal Myopathy 1
Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, EMG: myopathic abnormaliti... OMIM:164310
Combined Oxidative Phosphorylation Deficiency 24
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Skeletal muscle atr... OMIM:616239
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Progressive muscle weakness, Skeletal muscle atrophy ORPHA:264580
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ... OMIM:617675
Aicardi-Goutières Syndrome
Panniculitis, Myositis, Arthritis, Chilblains, Multiple joint contractures ORPHA:51
Neu-Laxova Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Flexion contracture, S... ORPHA:2671
Native American Myopathy
Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Muscle fiber at... ORPHA:168572
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Myositis, Thyroiditis, Abnormality of the extraocular muscles, Tubulo... ORPHA:79078
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Glycerol Kinase Deficiency
Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia, Chronic pancreatitis, Myopathy OMIM:307030
Danon Disease
Lower limb amyotrophy, Myocardial necrosis, EMG: myopathic abnormalities, Elevated circulating cr... OMIM:300257
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Diastasis recti, Skeletal muscle atrophy, Progressive muscle weakness ORPHA:488632
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Facial palsy, Skeletal muscle atrophy ORPHA:3068
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult... ORPHA:171430
Neutral Lipid Storage Disease With Ichthyosis
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased intramyocellular li... ORPHA:98907
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand OMIM:175700
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Fatigable weakness of respiratory muscles, Diaph... ORPHA:365
Overlap Myositis
Abnormal circulating lipid concentration, Proximal muscle weakness in upper limbs, Distal lower l... ORPHA:206572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Muscular dystrophy, Elevated circulating creatine kinase concentration, Congenital contracture OMIM:236670
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Polymyositis
Pericarditis, Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentratio... ORPHA:732
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Progressive muscle weakness, Skeletal muscle atrophy, Distal muscle weakness OMIM:256810
Primary Triglyceride Deposit Cardiomyovasculopathy
Pancreatitis, Rimmed vacuoles, Hyperlipidemia, Elevated circulating creatine kinase concentration... ORPHA:565612
Familial Mediterranean Fever
Amyloidosis, Renal amyloidosis OMIM:249100
Ehlers-Danlos Syndrome, Classic-Like, 1
Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
Q Fever
Amyloidosis ORPHA:781
Marden-Walker Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of finge... ORPHA:2461
Neuromuscular Oculoauditory Syndrome
Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscle fiber necrosis, Wrist flexion contr... OMIM:618733
Alkaptonuria
Amyloidosis, Tendon rupture, Thickened Achilles tendon ORPHA:56
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Tetrasomy 9P
Myositis, Pericarditis, Arthritis, Glue ear ORPHA:3310
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Macroglossia, Torticollis OMIM:617022
Mitochondrial Neurogastrointestinal Encephalomyopathy
Ragged-red muscle fibers, Decreased muscle mass, Foot dorsiflexor weakness, Abnormality of the ex... ORPHA:298
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Type 2 muscle fiber atrophy, Conge... OMIM:619036
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma ORPHA:1052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615287
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Rhabdomyolysis, Hypomagnesemia, I... ORPHA:79102
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Ragged-red muscle fibers, Increased variability in muscle fiber diameter,... ORPHA:17
Familial Mediterranean Fever
Amyloidosis ORPHA:342
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Generalized amyotrophy, Type 2 muscle fiber atrophy, Weakness of ... OMIM:602668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:253280
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Dystonia OMIM:614924
Congenital Myasthenic Syndrome
Distal lower limb muscle weakness, Frontalis muscle weakness, Distal amyotrophy, EMG: myopathic a... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal lower limb muscle weakness, Frontalis muscle weakness, Distal amyotrophy, EMG: myopathic a... ORPHA:98914
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Combined Oxidative Phosphorylation Deficiency 58
Ragged-red muscle fibers, Exaggerated startle response OMIM:620451
Autosomal Dominant Progressive External Ophthalmoplegia
Hypomimic face, Ragged-red muscle fibers, Resting tremor, Facial diplegia, Facial palsy, EMG: myo... ORPHA:254892
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness ORPHA:43393
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy, Allodynia OMIM:603041
Attrv122I Amyloidosis
Cardiac amyloidosis, Tendon rupture, Left ventricular hypertrophy ORPHA:85451
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Elbow flexion contracture, EMG: myopathic abnormalities, Limb muscle weakness, Muscle fiber atrop... ORPHA:1900
Multiple Endocrine Neoplasia Type 2
Cutaneous lichen amyloidosis, Proximal amyotrophy ORPHA:653
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis OMIM:134610
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Muckle-Wells Syndrome
Camptodactyly of finger, Renal amyloidosis ORPHA:575
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Calf musc