Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

Orpha code: 280333OMIM code: 613818

Definicja

A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

Disease data
Klasyfikacja

Disease

Synonimy
Alpha-dystroglycan-related LGMD R16
LGMD2P
Autosomal recessive limb-girdle muscular dystrophy type 2P
LGMD type 2P
LGMD2P
Limb-girdle muscular dystrophy type 2P
Kod ORPHA
280333
Kod OMIM
613818
Kod ICD10
G71.0
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl