/autosomal recessive limb-girdle muscular dystrophy type 2M

autosomal recessive limb-girdle muscular dystrophy type 2M

Rare Disease

MONDO:0012699

Also Known As

FKTN autosomal recessive limb-girdle muscular dystrophyLGMD-FKTN relatedLGMD2MMDDGC4autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTNmuscular dystrophy-dystroglycanopathy (limb-girdle) type C 4limb-girdle muscular dystrophy type 2Mmuscular dystrophy, limb-girdle, type 2Mmuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4

Definition

A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.