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Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare
  1. Akinori Uruha1,2,
  2. Ichizo Nishino1,2
  1. 1Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan
  2. 2Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
  1. Correspondence to Dr Ichizo Nishino, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan; nishino{at}ncnp.go.jp

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Titinopathy should be considered in myofibrillar myopathy with respiratory muscle involvement regardless of ethnic background

Respiratory failure in adult myopathy patients is rare. Nevertheless, it is often a characteristic clinical feature that can be a clue for the diagnosis of a certain group of muscle diseases, including Pompe disease and congenital myopathy. Two reports by Palmio et al1 and Pfeffer et al2 suggest that hereditary myopathy with early respiratory failure (HMERF) may not be rare and is distributed worldwide.

HMERF was first described as adult-onset myopathy with acute …

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