Limb-girdle muskeldystrofi type R9 FKRP-relatert
Også kjent som: Limb-girdle muskeldystrofi type R9 FKRP-relatert, Limb Girdle 2I/R9, LGMD R22, LGMD 2I, Autosomal recessive limb‑girdle muscular dystrophy type 2I, Limb girdle muskeldystrofi type R9 (2I)
Engelsk navn: FKRP-related limb-girdle muscular dystrophy R9
Engelske synonym: Autosomal recessive limb-girdle muscular dystrophy type 2I,FKRP-related LGMD R9,LGMD due to FKRP deficiency,LGMD type 2I,LGMD2I,Limb-girdle muscular dystrophy due to FKRP deficiency,Limb-girdle muscular dystrophy type 2I
Definisjon
A form of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement, and myoglobinuria and/or elevated creatine kinase serum levels.
Fra Orphanet
ORPHA: 34515
Klassifiseringsnivå: Disorder
ICD-10: G71.0
