January 30, 2017 E-Pearl of the Week: X-linked myopathy with excessive autophagy

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January 30, 2017

X-linked myopathy with excessive autophagy

The autophagic vacuolar myopathies are a subset of myopathies termed for particular findings on muscle biopsy. The group includes Danon's disease, infantile autophagic vacuolar myopathy, and X-linked myopathy with excessive autophagy (XMEA)1. In XMEA, patient present with progressive weakness and atrophy of proximal muscles with symptoms arising in late childhood to adulthood2. Serum creatine kinase is often normal. EMG may demonstrate complex repetitive discharges and myotonic discharges. Muscle biopsy demonstrates vacuoles with sarcolemma and complement 5b-9 deposition, related to the underlying pathology1. Genetic testing demonstrates mutations in the VMA21 gene, now in some myopathy gene panels. Treatment remains supportive.


  1. Munteanu I, Ramachandran N, Mnatzakanian N, et al. Fine-mapping the gene for X-linked myopathy with excessive autophagy. Neurology 2008; 71; 951-953.
  2. Crockett CD, Ruggieri A, Gujrati M, et al. Late-adult onset of X-linked myopathy with excessive autophagy Muscle Nerve 2014; 50: 138-144.

Submitted by Adam Numis, MD - University of California, Los Angeles. Dr. Numis is a member of the Resident and Fellow Section of Neurology.

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