Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2R (LGMD2R)?

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

LGMD2R (excluded from new classification)

Rare patients have been reported with a limb girdle phenotype. [38] Features include onset in the second or third decade with slowly progressive proximal and facial weakness. Scapular winging or respiratory involvement may be present. Scoliosis or scapular winging have been reported.

Cardiac symptoms are common, including conduction block and cardiomyopathy.


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