Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2S (LGMD2S)?

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

LGMD2S (LGMDR18 TRAPPC11; 4q35)

Rare patients have been reported with childhood onset of slowly progressive proximal weakness, which involves arms more than legs. [39] Facial weakness, scapular winging, and myalgias are occasionally noted.

There is mild-to-moderate intellectual disability and an infantile-onset hyperkinetic choreiform movement disorder.

Seizures, ataxia, and ocular abnormalities can occur.


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