autosomal recessive limb-girdle muscular dystrophy type 2P

info · Genetic · ICD-10: G71.0

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21.

Signs and symptoms

Elevated circulating creatine kinase activity
Delayed speech and language development
Gait disturbance
Hypoglycosylation of alpha-dystroglycan
Difficulty climbing stairs
Global developmental delay
Lumbar hyperlordosis
Unsteady gait
Ankle flexion contracture
Limb-girdle muscle weakness

Also known as: LGMD2P; MDDGC9; muscular dystrophy-dystroglycanopathy (limb-girdle) type C9; muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related