hereditary neuromuscular disease
MONDO:0100546Mondo
Findings
No curated finding names hereditary neuromuscular disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100546), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (53)
- Andersen-Tawil syndrome
- arthrogryposis due to muscular dystrophy
- autosomal recessive limb-girdle muscular dystrophy
- autosomal recessive myogenic arthrogryposis multiplex congenita
- Bethlem myopathy
- congenital fibrosis of extraocular muscles
- congenital muscular dystrophy caused by variation in POMGNT2
- congenital muscular dystrophy due to integrin alpha-7 deficiency
- congenital muscular dystrophy due to LMNA mutation
- 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
- congenital myopathy 28 with rigid spine
- congenital myopathy 2b, severe infantile, autosomal recessive
- congenital myopathy 3 with rigid spine
- congenital myopathy, Paradas type
- distal myopathy