Which clinical history findings are characteristic of autosomal-dominant limb-girdle muscular dystrophy 1D (LGMD1D)

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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LGMD1D (DNAJB6 mutation; LGMDD1 DNAJB6; 7q36)

Nomenclature is confusing and some classify this as LGMD1E. 

Usually adult onset with slow progression, although a few patients with childhood onset and respiratory involvement have been described.

Limb-girdle muscle weakness with waddling gait is common. Predominant distal weakness may occur.

The rectus femoris, sartorius, and the anterolateral group of lower leg and upper limb muscles are relatively preserved until the late stage.

Cardiac arrhythmia and cardiomyopathy are noted in all patients beginning 1–2 decades after weakness and may lead to sudden death.

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