autosomal recessive limb-girdle muscular dystrophy type 2I

info · Genetic · ICD-10: G71.0

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.

Signs and symptoms

Achilles tendon contracture
Elevated circulating creatine kinase activity
Difficulty climbing stairs
Muscle spasm
Reduced forced vital capacity
Pelvic girdle muscle weakness
Waddling gait
Hyperlordosis
Macroglossia
Frequent falls

Also known as: LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency; MDDGC5; muscular dystrophy limb-girdle type 2I; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5