Which clinical history findings are characteristic of autosomal-dominant limb-girdle muscular dystrophy 1E (LGMD1E)

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

LGMD1E (Desmin (DES) mutation [46] ; excluded from the new classification)

This was formerly reported as LGMD1D.

Several families have been reported with onset of weakness in their early 20s–60s. [47, 48] Most have proximal weakness, although distal weakness can predominate. Legs are usually affected more than arms.

Progression is slow, with most patients remaining ambulant into late life.

Dysphagia may be preset.

Serum CK is elevated.

No cardiomyopathy is noted.


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