autosomal recessive limb-girdle muscular dystrophy type 2L

Rare Disease

MONDO:0012652

Also Known As

ANO5 autosomal recessive limb-girdle muscular dystrophyLGMD2Lautosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5muscular dystrophy, limb-girdle, autosomal recessive 12muscular dystrophy, limb-girdle, type 2Llimb-girdle muscular dystrophy type 2L

Definition

A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.