Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

Orpha code: 280333OMIM code: 613818

Definition

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
Classification

Disease

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

No additional description.

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