Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2U (LGMD2U)?

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

LGMD2U (LGMDR20 ISPD; 7p21)

Rare patients have been reported with childhood onset (1–12 years) of proximal weakness. [42, 43]

Progression is slow and ambulation is often lost in teenage years, although a few patients were walking in their 40s and 50s.

Cardiomyopathy may be present.

Cognition and MRI are normal in the majority.

Other features can include myoglobinuria, cramps, scapular winging, and calf hypertrophy.

A more severe phenotype with congenital muscular dystrophy and associated brain and eye abnormalities has been described as in other muscular dystrophies with mutations in genes responsible for glycosylating α-dystroglycan. (see Congenital Muscular Dystrophy). Phenotypic variability may be noted in the same family.


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