muscular dystrophy-dystroglycanopathy type C12

info · Genetic

A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21.

Signs and symptoms

Hyporeflexia
Borderline intellectual disability
Elevated circulating creatine kinase activity
Delayed ability to walk
Difficulty climbing stairs
Motor delay
Neonatal hypotonia
Limb-girdle muscle weakness
Muscular dystrophy
Gowers sign

Also known as: LGMD due to POMK deficiency; Limb-girdle muscular dystrophy due to POMK deficiency; MDDGC12; muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related