/autosomal recessive limb-girdle muscular dystrophy type 2P

autosomal recessive limb-girdle muscular dystrophy type 2P

Rare Disease

MONDO:0013440

Also Known As

DAG1 autosomal recessive limb-girdle muscular dystrophyLGMD2PMDDGC9autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1muscular dystrophy-dystroglycanopathy (limb-girdle) type C9muscular dystrophy-dystroglycanopathy limb-girdle DAG1-relatedlimb-girdle muscular dystrophy type 2Pmuscular dystrophy, limb-girdle, type 2Pmuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is 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.