Gene Summary

Name:
collagen, type XIII, alpha 1
Synonyms:
N/A

IMPC Data Collections

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.

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Bone  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote Not available
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Adult LacZ

LacZ Images Wholemount

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Human diseases caused by Col13a1 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 associated to Col13a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Fatigable weakness of respiratory muscles, Hip flexor weakness, Wea... ORPHA:98913
Presynaptic Congenital Myasthenic Syndromes
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Proximal ... ORPHA:98914
Myasthenic Syndrome, Congenital, 19
Poor head control, Facial palsy, Bulbar palsy OMIM:616720

The table below shows human diseases predicted to be associated to Col13a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Distal ... OMIM:607641
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Fatiguable weakness of proximal limb muscles, Muscle fiber tubular ... ORPHA:2593
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Distal upper limb muscle weakness, Increas... ORPHA:609
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Scapuloperoneal weakness, Centrally nucleated ske... OMIM:608358
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Centrally nucleated skeletal ... OMIM:608423
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Skeletal muscle at... ORPHA:611
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscle weakness, Muscular dystrophy, Centrally nucleated skeletal... OMIM:613530
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Distal muscle weak... OMIM:605820
Glycogen Storage Disease Xiii
Increased muscle glycogen content, Myalgia OMIM:612932
Central Core Disease Of Muscle
Muscle weakness, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fiber... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscle fiber predom... OMIM:618655
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Rimmed vacuoles, Weakness of long fi... ORPHA:603
Welander Distal Myopathy
Distal muscle weakness, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, External ophthalmoplegia, Skeletal muscle hypertrophy, Flexion cont... OMIM:160150
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle... OMIM:619178
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Inclusion Body Myositis
Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscle weakness, Scapular winging, ... ORPHA:602
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Proximal... OMIM:500002
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Proximal muscle weakness in lower limbs, Proximal musc... ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf mu... OMIM:618848
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Neuronopathy, Distal Hereditary Motor, Type Va
Thenar muscle weakness, Thenar muscle atrophy, Distal muscle weakness, Distal amyotrophy, Upper l... OMIM:600794
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Respiratory insufficiency due to... OMIM:611067
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Proximal amyotrophy, Back pain, Myopathy, Myalgia, Muscle fiber splitting OMIM:618129
Myopathy, Congenital Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 muscle fiber predomi... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Fatigue, Muscle fiber splitting, Increased vari... OMIM:253601
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, External ophthalmoplegia, Increased endomysial connective tissue, D... OMIM:618940
Myopathy, Centronuclear, 4
Muscle weakness, Centrally nucleated skeletal muscle fibers OMIM:614807
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Amyotrophic Lateral Sclerosis 16, Juvenile
Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal ... OMIM:614373
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Prox... OMIM:601954
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Arthralgia, Scapular winging, Skin rash, Myocarditis, Proximal musc... ORPHA:206569
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Facial diplegia, Progressive distal muscle we... ORPHA:399058
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Flexion contracture, Lower limb muscle weakness, Skel... OMIM:300695
Juvenile Primary Lateral Sclerosis
Muscle weakness, Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
Salih Myopathy
Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Fac... OMIM:611705
Zebra Body Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Axial muscle weakness, Limb-girdle muscular d... ORPHA:97240
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Muscle weakness, Spinal muscular atrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy OMIM:614881
Myopathy, Myofibrillar, 2
Neck muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency... OMIM:608810
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Spinal Muscular Atrophy, Infantile, James Type
Muscle weakness, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal muscle weak... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Myo... OMIM:253600
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Fatigable weakness, Proximal muscle weakness OMIM:614750
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Progressive external ophthalmoplegia, Generalized muscle weakness, ... OMIM:609283
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of skeletal m... OMIM:613204
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Scapuloperoneal weakness, Centrally nucleated skeletal muscle fiber... OMIM:255160
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... OMIM:602099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Polyglucosan Body Myopathy 2
Distal muscle weakness, Limb-girdle muscle weakness, Skeletal muscle atrophy OMIM:616199
Minicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Ce... OMIM:255320
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Myopathy, Distal, 4
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Ab... OMIM:614065
Myopathy, Distal, 1
Neck muscle weakness, Proximal muscle weakness, Type 1 muscle fiber predominance, Amyotrophy of a... OMIM:160500
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Torticollis, Skeletal muscle atrophy, M... OMIM:158810
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy OMIM:255140
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Increased intramyocellular lipid droplets, Weakness of facial musculature OMIM:619062
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Muscular Dystrophy, Congenital, Merosin-Positive
Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, Facial palsy... OMIM:609456
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle muscle we... OMIM:603511
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Generalized muscle weakness, Rimmed v... ORPHA:34516
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... OMIM:617066
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle weakness, Pro... OMIM:255310
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Short stature, Muscle weakness OMIM:261750
Nemaline Myopathy 7
Neck muscle weakness, Muscle weakness, Respiratory insufficiency due to muscle weakness, Nemaline... OMIM:610687
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign OMIM:311050
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Proximal muscle weakness, Flexion contracture, Respiratory insufficiency due to muscle weakness, ... OMIM:300717
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscle weakness, Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue,... OMIM:617072
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Muscle weakness, Distal amyotrophy, Distal muscle weakness, Skeletal muscle atrophy OMIM:614369
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Scapuloperoneal weakness, Flexion contracture, Proximal muscle weakness, Rimmed... OMIM:300696
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness, Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Distal muscle weakness, Rimmed vacuoles, Skeletal muscle atrophy, Calf ... OMIM:617760
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle weakness, Internally nucleated skeletal muscle fibers, Proximal muscle weakness, Type 1 mu... OMIM:618654
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Proximal muscl... ORPHA:401768
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion contracture,... ORPHA:353327
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Multiminicore Myopathy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, External ophthalmoplegia, C... ORPHA:598
Spinal Muscular Atrophy, Type Iv
Proximal muscle weakness, Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal ... OMIM:271150
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, R... ORPHA:486815
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Myopathy, Proximal, With Ophthalmoplegia
Neck muscle weakness, Scapular winging, Congenital contracture, Proximal muscle weakness, Distal ... OMIM:605637
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Arthrogryposis multiplex congenita, Centrally nucleated skeletal muscle fibers, Flexion contractu... OMIM:618484
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Myositis, Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:565899
Eosinophilic Fasciitis
Arthralgia, Muscular edema, Fasciitis, Myositis, Fatigue, Myalgia, Arthritis ORPHA:3165
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Arthralgia, Increased inflammatory response, Myositis, Fatigue, Crohn's disease, Acne, A... ORPHA:69126
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal ... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Muscle weakness, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal ... OMIM:616437
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Hand muscle weakness, Scapular wing... ORPHA:437572
B4Galt1-Cdg
Myopathy ORPHA:79332
Nemaline Myopathy 1
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Neck muscle weakness, Flexion contr... OMIM:609284
Myositis
Myositis OMIM:160750
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Abnormal sensory nerve conduction ve... ORPHA:276435
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Spinal Muscular Atrophy, Type Iii
Muscle weakness, Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal muscle we... OMIM:253400
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Progressive distal muscle weakness, ... ORPHA:399086
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Focal Myositis
Myositis, Myalgia ORPHA:48918
Nemaline Myopathy 4
Neck muscle weakness, Scapular winging, Flexion contracture, Type 1 muscle fiber predominance, Ne... OMIM:609285
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Muscle weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness, Gowers sign, Rimmed va... OMIM:612937
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal muscle weakness, Distal amyotrophy, Rimm... OMIM:610099
Neuropathy, Hereditary Motor, With Myopathic Features
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Proximal muscle weakness in ... OMIM:619216
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Weakness of the intrinsic hand ... ORPHA:399103
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Gowers sign, Calf muscle pseudohypertrophy, Reduced muscle fiber ... ORPHA:280333
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Klhl9-Related Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscl... ORPHA:399081
Spinal Muscular Atrophy, Type Ii
Muscle weakness, Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle at... OMIM:253550
Neuropathy, Painful
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:256870
Nemaline Myopathy 5
Proximal amyotrophy, Type 1 muscle fiber predominance, Z-band streaming, Nemaline bodies, Shoulde... OMIM:605355
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Myopathy, Facial palsy OMIM:253320
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Neck muscle weakness, Macroglossia, Muscle weakness, Increased... OMIM:500009
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Pelvic girdle muscle weakness, Achilles tendon cont... OMIM:603689
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture OMIM:616471
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, P... ORPHA:169186
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Amyotro... OMIM:606070
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Myopathy, Myofibrillar, 8
Neck muscle weakness, Muscle weakness, Scapular winging, Centrally nucleated skeletal muscle fibe... OMIM:617258
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amy... OMIM:167320
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Progressive distal muscle weakness, Progressive muscle weakness, Au... OMIM:609452
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb muscle weakness, Upper limb amyotrophy, Rimmed vacuoles, Upp... OMIM:616924
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy OMIM:262900
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Congenital Myopathy With Myasthenic-Like Onset
EMG: myopathic abnormalities, Scapular winging, Type 1 muscle fiber predominance, Multiple joint ... ORPHA:424107
Distal Myotilinopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Abnormal muscle fiber myotilin,... ORPHA:98911
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Skeleta... OMIM:616812
Myasthenic Syndrome, Congenital, 14
Scapular winging, Flexion contracture, Fatigable weakness, Gowers sign, Ragged-red muscle fibers,... OMIM:616228
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Generalized hypotonia due to defect at the neuromuscular junc... OMIM:254210
Myasthenic Syndrome, Congenital, 25, Presynaptic
Myopathy, Flexion contracture, Generalized amyotrophy OMIM:618323
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Proximal muscle weakness, Distal muscle weakness, Progressive external ophthalmoplegia, Skeletal ... OMIM:617070
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset distal muscle weakne... OMIM:256030
Myopathy, Spheroid Body
Myopathy, Skeletal muscle atrophy, Proximal amyotrophy OMIM:182920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Muscle weakness, Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylatio... OMIM:616052
Combined Oxidative Phosphorylation Deficiency 6
Muscle weakness, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skel... OMIM:300816
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Proximal muscle weakness, Distal mus... ORPHA:52430
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial ... OMIM:300580
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Sudden cardiac death, Decreased cervica... OMIM:310300
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Abnormal mitochondria in muscle tissue, Progres... ORPHA:663
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Foot dorsif... OMIM:607678
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:614751
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Decreased ... OMIM:605809
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Fatigable weakness, Type 2 muscle fiber atrophy, Prolonged miniature endpl... OMIM:603034
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscle weakness, Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion c... OMIM:607855
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Muscle weakness, Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Myopathy OMIM:616321
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Dpm3-Cdg
Muscle weakness, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Calf muscle ... ORPHA:263494
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents, Type 2 muscle fiber atrophy OMIM:601462
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Amyotrophic Lateral Sclerosis 18
Muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Rim... OMIM:248800
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Respiratory insufficiency due to muscle weakne... ORPHA:98902
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Gowers sign, Limb-girdle muscle weak... OMIM:613818
Nemaline Myopathy 11, Autosomal Recessive
Gowers sign, Scapular winging, Nemaline bodies, Facial palsy OMIM:617336
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Monomelic Amyotrophy
Muscle weakness, Abnormality of peripheral nerve conduction, Distal upper limb amyotrophy, Degene... ORPHA:65684
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Fatty replacement of skeletal muscle OMIM:255100
Facial Onset Sensory And Motor Neuronopathy
Muscle weakness, Skeletal muscle atrophy ORPHA:85162
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Nemaline bodies, Facial palsy OMIM:615348
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neck muscle weakness, Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle... OMIM:608930
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Flexion contracture, Facial palsy, Skeletal muscle atrophy OMIM:616313
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Hypertonia, Postnatal growth retardation OMIM:614023
Rigid Spine Syndrome
Hamstring contractures, Pneumonia, Skeletal muscle atrophy, Hip contracture, Myopathy, Elbow flex... ORPHA:97244
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Muscle weakness, Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Arthralgia, Abdominal pain, Bone pain, Maculopapular exanthema, Conjunctivitis, Erysip... OMIM:142680
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Pelvic girdle muscle weakness, Proximal muscle weakness, Shoulder girdle musc... ORPHA:34515
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Neutral Lipid Storage Disease With Myopathy
Neck muscle weakness, Increased muscle lipid content, Proximal muscle weakness, Gowers sign, Shor... OMIM:610717
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle weakness, Distal am... OMIM:607088
Myopathy Due To Malate-Aspartate Shuttle Defect
Myopathy, Exercise-induced myalgia OMIM:254960
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Increased muscle lipid content, Myopathy, Ragged... ORPHA:254864
Myopathy Due To Myoadenylate Deaminase Deficiency
Myopathy, Exercise-induced myalgia, Rhabdomyolysis, Skeletal muscle atrophy OMIM:615511
Nemaline Myopathy 10
Muscle weakness, Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficien... OMIM:616165
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy OMIM:551500
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Arthralgia, Rheumatoid arthritis, Myositis, Myalgia ORPHA:48104
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Generalized amyot... OMIM:609560
Congenital Muscular Dystrophy, Ullrich Type
Muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Increased endomy... ORPHA:75840
Congenital Multicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Muscular dystrophy, Muscle fiber hypertrophy, Shoulder girdle muscle we... ORPHA:98905
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Type 1 muscle fiber predomi... ORPHA:597
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Respiratory insuffici... OMIM:611890
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Neck muscle weakness, Muscular dystroph... ORPHA:610
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Flexion contracture, Distal muscle weakness, Nemaline ... OMIM:607684
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal ... OMIM:105550
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Proximal amyotrophy, Pelvic girdle muscle weakness, Achille... ORPHA:2596
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Limb-girdle muscle weakness, Myalgia, Multiple joint contractures ORPHA:352470
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, External ophthalmoplegia, Centrally nucleated skeletal muscle fiber... ORPHA:169189
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscl... OMIM:608931
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Amyotrophic Lateral Sclerosis 1
Muscle weakness, Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Skeletal mus... OMIM:105400
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Respiratory insufficiency d... ORPHA:600
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Congenital muscular dystrophy, Myalgia, Limb-g... ORPHA:370980
Glycogen Storage Disease X
Myopathy, Exercise-induced myalgia, Rhabdomyolysis OMIM:261670
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Fatigue, Abdominal pain OMIM:616794
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Proximal muscle weakness, Flexion contracture, Respiratory insufficiency due to muscle weakness, ... OMIM:300718
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Fatigable weakness of respiratory muscles, Increased intramyoce... ORPHA:681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Skeletal muscle atrophy OMIM:608807
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Muscle weakness, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis,... OMIM:612069
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Congenital muscular dystrophy, Muscular dystrophy, Facial palsy OMIM:602541
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Limb-girdle muscular dystrophy, Myopathy, Myalgia, Muscle fiber atrophy ORPHA:369840
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Fatigable weakness of respiratory muscles, Hip flexor weakness, Wea... ORPHA:98913
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial connective tis... ORPHA:353
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Lower limb muscle weakness, Arthritis, Myopathy, Fatty replacement ... ORPHA:397744
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset distal muscle weakne... OMIM:161800
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Generalized amyotrophy, Facial palsy, Knee flex... OMIM:612954
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Fatty replacement of skeletal muscle, Scapular winging, Intrinsic h... ORPHA:329478
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Decrease... OMIM:615368
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Proximal muscle weakness, Generalized muscle weakness, G... OMIM:613723
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Proximal muscle weakness, Distal muscle weakness, Abnorma... ORPHA:275872
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Proteasome-Associated Autoinflammatory Syndrome 4
Panniculitis, Myositis, Flexion contracture, Skeletal muscle atrophy OMIM:619183
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Absent brainstem auditory responses, Di... OMIM:617519
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variability in muscle... ORPHA:119
Sengers Syndrome
Myopathy, Fatigue OMIM:212350
Thymoma
Skin rash, Pericarditis, Chest pain, Thyroiditis, Keratoconjunctivitis sicca, Myocarditis, Myosit... ORPHA:99867
Spinal Muscular Atrophy, X-Linked 2
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Multiple joint ... OMIM:301830
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Short stature OMIM:312910
Rigid Spine Muscular Dystrophy 1
Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contracture, General... OMIM:602771
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Myopathy, Skeletal muscle hypertrophy, Macroglossia, Myalgia ORPHA:2349
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Flexion contracture, Type 1 mus... ORPHA:171433
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Proximal muscle weakness, Distal muscle weakness, Progressive musc... OMIM:608627
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Progressive distal muscle weakness, Amyoplasia, Progre... OMIM:181405
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Pauci... OMIM:253310
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness OMIM:619024
Hypokalemic Periodic Paralysis, Type 1
Myopathy OMIM:170400
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter OMIM:619065
Glycogen Storage Disease Due To Aldolase A Deficiency
EMG: myopathic abnormalities, Decreased muscle mass, Viral infection-induced rhabdomyolysis, Exer... ORPHA:57
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Muscle weakness, Skeletal muscle atrophy ORPHA:371
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Flexion contracture, Facial palsy OMIM:201470
Cap Myopathy
Abnormal muscle fiber morphology, Fatiguable weakness of proximal limb muscles, Lower limb muscle... ORPHA:171881
Hypokalemic Periodic Paralysis, Type 2
Myopathy OMIM:613345
Glutathionuria
Tremor OMIM:231950
Muscular Dystrophy, Scapulohumeral
Muscle weakness, Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness, Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Gowers sign, Right ventricular hypertrophy, Calf muscle ... OMIM:253700
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Spinal muscular atrophy, Progressive distal muscular atrophy, Degeneration of anterior horn cells... OMIM:159950
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Myopathy, Flexion contracture, Skeletal muscle atrophy OMIM:310440
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy OMIM:618234
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Abdominal p... ORPHA:39812
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Increased Z-disc width, Achilles tendon co... OMIM:617114
Leber Hereditary Optic Neuropathy
Myopathy ORPHA:104
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Increased variability in muscle... OMIM:616470
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Whipple Disease
Arthralgia, Pericarditis, Chest pain, Abdominal pain, Uveitis, Encephalitis, Myocarditis, Myositi... ORPHA:3452
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Muscle weakness, Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitocho... OMIM:252011
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Rigidity OMIM:617018
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Arthralgia, Pustule, Malar rash, Pustular rash, Skeletal muscle atrophy, Myositis, Mya... OMIM:615934
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Mixed Connective Tissue Disease
Skin rash, Arthralgia, Pericarditis, Chest pain, Keratoconjunctivitis sicca, Gastritis, Myocardit... ORPHA:809
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy, Progressive external ophthalmoplegia ORPHA:480
X-Linked Immunoneurologic Disorder
Myopathy ORPHA:2571
Antisynthetase Syndrome
Skin rash, Keratoconjunctivitis sicca, Myocarditis, Myositis, Chest pain, Myalgia ORPHA:81
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Classic Multiminicore Myopathy
Increased muscle lipid content, Congenital muscular dystrophy, Generalized amyotrophy, Multiple j... ORPHA:324604
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita OMIM:201550
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets, Proximal muscle weakness OMIM:612016
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Arthralgia, Endocarditis, Abdominal pain, Increased inflammatory response, Myocarditis... ORPHA:183
Pontocerebellar Hypoplasia, Type 1A
Muscle weakness, Spinal muscular atrophy, Congenital contracture, Degeneration of anterior horn c... OMIM:607596
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy OMIM:618242
Acquired Partial Lipodystrophy
Myopathy, Arthralgia ORPHA:79087
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Muscle weakness, Bulbar palsy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Spinal muscular atrophy, Chronic fatigue, Skeletal muscle atrophy, Recurrent pneumonia, Myopathy,... ORPHA:254875
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Optic neuritis, Facial palsy, Myopathy, Ragged-red muscle... ORPHA:254886
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscle weakness, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Proximal muscle wea... OMIM:615352
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Proximal muscle weakness, Distal muscle weakness, Hand muscle atrophy, Skeletal muscle atrophy, D... ORPHA:99944
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Fatigable weakness of skeletal muscles, Proximal amyotrophy, Limb-girdle muscul... ORPHA:206559
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Muscle weakness, Abnormal cranial nerve morphology, Ophthalmoplegia, Abnormal mitochondria in mus... OMIM:258470
Malignant Hyperthermia, Susceptibility To, 2
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154275
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Arthralgia, Flexion contracture, Panniculitis, Conjunctivitis, Sinusitis, Myositis, Ar... OMIM:617591
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Abdominal pain, Myocarditis, Pneumonia, Septic arthritis, Pain, Chills, G... ORPHA:36234
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:157973
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Myopathy, Postexertional malaise, Osteoarthritis, Knee pain ORPHA:166002
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy ORPHA:91130
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy ORPHA:300179
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Flexion contracture, ... ORPHA:178148
Spastic Paralysis, Infantile-Onset Ascending
Muscle weakness, Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy OMIM:540000
Malignant Hyperthermia, Susceptibility To, 3
Viral infection-induced rhabdomyolysis, Exercise-induced rhabdomyolysis, Anesthetic-induced rhabd... OMIM:154276
Pediatric Systemic Lupus Erythematosus
Skin rash, Arthralgia, Abdominal pain, Discoid lupus rash, Malar rash, Myositis, Chest pain, Neph... ORPHA:93552
Glutamate-Cysteine Ligase Deficiency
Myopathy ORPHA:33574
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign OMIM:300660
Hypophosphatasia, Childhood
Myopathy OMIM:241510
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Respiratory insufficiency due to muscle weakness, Proximal muscle w... OMIM:258450
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology OMIM:613724
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy OMIM:215470
Sweet Syndrome
Inflammation of the large intestine, Pustule, Arthralgia, Panniculitis, Pain, Oligoarthritis, Myo... ORPHA:3243
Duchenne And Becker Muscular Dystrophy
Myopathy, Skeletal muscle atrophy ORPHA:262
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Pyomyositis
Sudden cardiac death, Myositis, Recurrent cutaneous abscess formation, Myalgia ORPHA:764
Fusariosis
Peritonitis, Bronchiectasis, Panniculitis, Pneumonia, Maculopapular exanthema, Keratitis, Fasciit... ORPHA:228119
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Tremor, Fatiguable weakness of proximal limb muscles, A... ORPHA:90117
Myopathy, Congenital, With Tremor
EMG: myopathic abnormalities, Scapular winging, Flexion contracture OMIM:618524
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 33
Myopathy, Fatigue, Left ventricular hypertrophy OMIM:617713
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
EMG: myopathic abnormalities, Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Sk... OMIM:608840
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Short stature, Dysmetria OMIM:616291
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Absent pubertal growth spurt, Short stature, Congenital diaphragmatic hernia ORPHA:438134
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Amyotrophy, Monomelic
Interosseus muscle atrophy, Cold paresis, Cervical spinal cord atrophy, Upper limb muscle weakness OMIM:602440
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Absent muscle fiber merosin, Fle... ORPHA:258
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Fatigue, Muscular dystrophy OMIM:613157
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Flexion contracture of finger, Postexertional malaise, Left ventric... OMIM:619040
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Op... OMIM:270500
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies OMIM:616549
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facial musculature ORPHA:352447
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Arthralgia, Pericarditis, Abdominal pain, Uveitis, Orchitis, Conjunctivit... ORPHA:32960
Juvenile Dermatomyositis
Skin rash, Arthralgia, Pericarditis, Abdominal pain, Calcinosis, Myositis, Fatigue, Myalgia, Arth... ORPHA:93672
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology, Respiratory insufficiency due... ORPHA:2590
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Congenital Muscular Dystrophy With Intellectual Disability
Fatigable weakness of skeletal muscles, Skeletal muscle hypertrophy, Hypoglycosylation of alpha-d... ORPHA:370968
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Congenital muscular dystrophy, Flexion contracture, Respiratory insuf... OMIM:254090
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Spastic Paraplegia Type 7
Lower limb hypertonia, Lower limb muscle weakness, Ragged-red muscle fibers, Optic atrophy, Optic... ORPHA:99013
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Ataxia, Short stature OMIM:617862
Myopathy With Lactic Acidosis, Hereditary
Myopathy, Rhabdomyolysis, Increased intramyocellular lipid droplets OMIM:255125
Adrenomyodystrophy
Myopathy OMIM:300270
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Generalized amyotrophy, Lower limb muscle weakness, Short... OMIM:601162
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscle weakness, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan OMIM:615350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Proximal amyotrophy, ... OMIM:606612
Parkinson Disease 22, Autosomal Dominant
Tremor, Orthostatic hypotension, Resting tremor, Bradykinesia OMIM:616710
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Achilles tendon contracture, Distal ... ORPHA:254361
Combined Oxidative Phosphorylation Defect Type 13
Muscle weakness, Lower limb hypertonia, Type 1 muscle fiber predominance, Type 2 muscle fiber atr... ORPHA:319514
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia, Short stature, Decreased nerve conduction velocity ORPHA:1368
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, Spasticity OMIM:607317
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness, Skeletal muscle atrophy OMIM:254950
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis OMIM:300653
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Fatigable weakness of swallowing muscles, Fatigable we... ORPHA:803
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Fatigue, Limb-girdle muscle weakness ORPHA:1215
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Contractures of the large joints, Short stature, Postnatal growth retardation OMIM:608278
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia, Membranous nephropathy, ... ORPHA:37042
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
EMG: myopathic abnormalities, Distal amyotrophy, Lower limb muscle weakness, Upper limb muscle we... ORPHA:99939
Primary Pigmented Nodular Adrenocortical Disease
Myopathy, Fatigue, Skeletal muscle atrophy ORPHA:189439
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Flexion contracture OMIM:618237
Typical Nemaline Myopathy
Arthrogryposis multiplex congenita, Facial diplegia, Flexion contracture, Type 1 muscle fiber pre... ORPHA:171436
Mental Retardation, Autosomal Dominant 55, With Seizures