Congenital fiber-type disproportion myopathy
ORPHA:2020· ICD-10 G71.2
Definition
A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal