/autosomal recessive limb-girdle muscular dystrophy type 2T

autosomal recessive limb-girdle muscular dystrophy type 2T

Rare Disease

MONDO:0014142

Also Known As

GMPPB autosomal recessive limb-girdle muscular dystrophyLGMD-GMPPB relatedLGMD2TMDDGC14autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPBmuscular dystrophy limb-girdle type 2Tmuscular dystrophy-dystroglycanopathy (limb-girdle) type C14muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-relatedlimb-girdle muscular dystrophy type 2Tmuscular dystrophy, limb-girdle, type 2Tmuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related

Definition

Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.