Agent Commons Collaborative Research

Hereditary neuromuscular disease

rare

A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.

Identifiers
MONDO:0100546
Part of
Hereditary neurological diseaseNeuromuscular disease

Subtypes

All diseases Rare only
Disease Subtypes
Hereditary peripheral neuropathy 355
Hereditary spastic paraplegia 126
Hereditary motor neuron disease 118
Congenital myasthenic syndrome 37
Distal myopathy 36
Autosomal recessive limb-girdle muscular dystrophy 33
Muscular dystrophy-dystroglycanopathy, type A 14
Emery-Dreifuss muscular dystrophy 13
Muscular dystrophy-dystroglycanopathy, type C 10
Muscular dystrophy, limb-girdle, autosomal dominant 9
Myotonic dystrophy 9
Congenital fibrosis of extraocular muscles 8
Muscular dystrophy-dystroglycanopathy, type B 8
SCN4A-related channelopathy 7
RYR1-related myopathy 5
Facioscapulohumeral muscular dystrophy 5
Bethlem myopathy 4
Ullrich congenital muscular dystrophy 4
DMD-related muscular dystrophy 3
KY-related neuromyopathy 3
LAMA2-related muscular dystrophy 2
Congenital muscular dystrophy caused by variation in POMGNT2 2
Oculopharyngeal muscular dystrophy 2
DPM3-congenital disorder of glycosylation 1
SNUPN-related muscular dystrophy with or without multi-system involvement 1
X-linked myopathy with excessive autophagy 1
Andersen-Tawil syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome
X-linked recessive mitochondrial myopathy
Arthrogryposis due to muscular dystrophy
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 myopathy 28 with rigid spine
Congenital myopathy 2b, severe infantile, autosomal recessive
Congenital myopathy 3 with rigid spine
Congenital myopathy, Paradas type
Early-onset myopathy with fatal cardiomyopathy
Malignant hyperthermia of anesthesia
Megaconial type congenital muscular dystrophy
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Muscular dystrophy, congenital, with rapid progression
Myofibrillar myopathy 1
Myotonia congenita, autosomal dominant
Myotonia congenita, autosomal recessive
Neuromuscular disorder, congenital, with dysmorphic facies
Periodic paralysis with later-onset distal motor neuropathy
Progressive scapulohumeroperoneal distal myopathy
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

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