autosomal recessive limb-girdle muscular dystrophy type 2M

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 (FKTN) on chromosome 9q31.

Signs and symptoms

Elevated circulating creatine kinase activity
Hypoglycosylation of alpha-dystroglycan
Hypotonia
Muscular dystrophy
Motor delay
Proximal muscle weakness
Hyporeflexia
Flexion contracture
Gowers sign
Pectus excavatum

Also known as: LGMD2M; MDDGC4; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4