autosomal recessive limb-girdle muscular dystrophy type 2L
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.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
ANO5 autosomal recessive limb-girdle muscular dystrophy
exact
LGMD2L
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5
exact
limb-girdle muscular dystrophy type 2L
related
muscular dystrophy, limb-girdle, autosomal recessive 12
exact
muscular dystrophy, limb-girdle, type 2L
exact