Agent Commons Collaborative Research

Hereditary skeletal muscle disorder

rare

An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual.

Identifiers
MONDO:0700223
Part of
Hereditary diseaseSkeletal muscle disorder
Also known as
genetic muscle disease · genetic muscle disorder · genetic muscular disease · genetic muscular disorder · hereditary muscle disorder

Subtypes

All diseases Rare only
Disease Subtypes
Inborn mitochondrial myopathy 70
Distal myopathy 36
Autosomal recessive limb-girdle muscular dystrophy 33
Nemaline myopathy 18
Myofibrillar myopathy 16
TTN-related myopathy 15
Muscular dystrophy-dystroglycanopathy, type A 14
Emery-Dreifuss muscular dystrophy 13
Hereditary inclusion-body myopathy 13
Muscular dystrophy-dystroglycanopathy, type C 10
Centronuclear myopathy 9
Muscular dystrophy, limb-girdle, autosomal dominant 9
Myotonic dystrophy 9
Congenital fibrosis of extraocular muscles 8
Muscular dystrophy-dystroglycanopathy, type B 8
FHL1-related myopathy 5
RYR1-related myopathy 5
Congenital diaphragmatic hernia 5
Facioscapulohumeral muscular dystrophy 5
Multiminicore myopathy 5
Bethlem myopathy 4
Ullrich congenital muscular dystrophy 4
Alpha-actinopathy 4
ACTN2-related cardiac and skeletal myopathy 3
DMD-related muscular dystrophy 3
TPM3-related myopathy 3
Myopathy caused by variation in FKRP 3
Myopathy caused by variation in FKTN 3
Myopathy caused by variation in GMPPB 3
Myopathy caused by variation in POMGNT1 3
Myopathy caused by variation in POMGNT2 3
Myopathy caused by variation in POMT1 3
Myopathy caused by variation in POMT2 3
Potassium-aggravated myotonia 3
LAMA2-related muscular dystrophy 2
TPM2-related myopathy 2
Wieacker-Wolff syndrome (spectrum) 2
Inherited rippling muscle disease 2
Myopathy caused by variation in CRPPA 2
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
Myopathy, proximal, and ophthalmoplegia 2
Oculopharyngeal muscular dystrophy 2
Polyglucosan body myopathy 2
Tubular aggregate myopathy 2
DPM3-congenital disorder of glycosylation 1
SCN4A-related myopathy, autosomal recessive 1
SNUPN-related muscular dystrophy with or without multi-system involvement 1
TOR1AIP1-related myopathy 1
Bailey-Bloch congenital myopathy
Brody myopathy
Compton-North congenital myopathy
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
MEGF10-related myopathy
Poland syndrome
Arthrogryposis due to muscular dystrophy
Autosomal dominant nebulin-related myopathy
Autosomal recessive myogenic arthrogryposis multiplex congenita
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy due to integrin alpha-7 deficiency
Congenital muscular dystrophy with cataracts and intellectual disability
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital myasthenic syndrome 10
Congenital myopathy 10b, mild variant
Congenital myopathy 11
Congenital myopathy 15
Congenital myopathy 18
Congenital myopathy 20
Congenital myopathy 21 with early respiratory failure
Congenital myopathy 22A, classic
Congenital myopathy 22B, severe fetal
Congenital myopathy 25
Congenital myopathy 26
Congenital myopathy 27
Congenital myopathy 28 with rigid spine
Congenital myopathy 29 with contractures
Congenital myopathy 2b, severe infantile, autosomal recessive
Congenital myopathy 2c, severe infantile, autosomal dominant
Congenital myopathy with reduced type 2 muscle fibers
Congenital myopathy, Paradas type
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Hereditary continuous muscle fiber activity
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hyaline body myopathy
Megaconial type congenital muscular dystrophy
Metabolic myopathy due to lactate transporter defect
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Muscular dystrophy, congenital, with rapid progression
Myopathy due to calsequestrin and SERCA1 protein overload
Myopathy due to myoadenylate deaminase deficiency
Myopathy with abnormal lipid metabolism
Myopathy, congenital proximal, with minicore lesions
Myopathy, congenital, progressive, with scoliosis
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
Myopathy, congenital, with respiratory insufficiency and bone fractures
Myopathy, congenital, with tremor
Myopathy, myosin storage, autosomal recessive
Myopathy, sarcoplasmic body
Myosclerosis
Paramyotonia congenita of Von Eulenburg
Proximal myopathy with extrapyramidal signs
Proximal myopathy with focal depletion of mitochondria
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Rare disease

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