Medfødt MD type Ullrich
Også kjent som: Ullrich syndrom, Kongenital muskeldystrofi, Ullrich
Engelsk navn: Congenital muscular dystrophy, Ullrich type
Engelske synonym: Scleroatonic muscular dystrophy,UCMD,Ullrich disease
Definisjon
Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
Fra Orphanet
ORPHA: 75840
Klassifiseringsnivå: Disorder
ICD-10: G71.2