/autosomal recessive limb-girdle muscular dystrophy type 2K

autosomal recessive limb-girdle muscular dystrophy type 2K

Rare Disease

MONDO:0012248

Also Known As

LGMD-POMT1 relatedLGMD2KMDDGC1POMT1 autosomal recessive limb-girdle muscular dystrophyautosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1limb-girdle muscular dystrophy-intellectual disability syndromemuscular dystrophy limb-girdle type 2Kmuscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1limb-girdle muscular dystrophy - intellectual disabilitylimb-girdle muscular dystrophy type 2Kmuscular dystrophy, limb-girdle, type 2Kmuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.