Congenital muscular dystrophy type 1A
Også kjent som: Congenital MD type 1A, Medfødt MD type 1A, Laminin subunit alpha 2-relatert kongenital muskeldystrofi
Engelsk navn: Laminin subunit alpha 2-related congenital muscular dystrophy
Engelske synonym: CMD1A,Congenital muscular dystrophy due to laminin alpha2 deficiency,Congenital muscular dystrophy type 1A,MDC1A,Merosin-negative congenital muscular dystrophy
Definisjon
Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.
Fra Orphanet
ORPHA: 258
Klassifiseringsnivå: Disorder
ICD-10: G71.2
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
