Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2L (LGMD2L)?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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LGMD2L (LGMDR12 ANO5; 11p14)

LGMD2L was originally described in French-Canadian families [27, 28] but was later described in British, German, and Chinese patients as well. [29, 30]   

Anoctaminopathy is one of the most common adult muscular dystrophies in Northern Europe.

Age of onset is usually between early 20s and 50 years (mean 34 years).

Females may show less severe phenotype.

Common presentation is with proximal shoulder and pelvic girdle weakness. Walking difficulties or standing on the toes is often the presenting complaint. There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common. Scapular winging may occur in up to a third of patients.

Facial weakness, hand weakness, and contractures are uncommon.

Progression is slow, and walking is retained. Cardiac and respiratory function is normal.

Asymptomatic hyperCKemia may be noted.

This disease is allelic with distal myopathy MMD3, which presents with calf weakness. Proximal thigh, biceps, and proximal weakness may develop later and may be asymmetric. While patients can present with features more typcial of LGMD2L or MMD3, with progression, phenotypes overlap and merge into a more homogenous picture.MRI - predominant fatty degeneration of the gluteus minimus muscle and of the posterior segments of the thigh and calf muscles with sparing of the gracilis muscle.

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