X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

Abstract

X-linked myotubular myopathy (XLMTM) is a rare hereditary disorder of the skeletal muscle. Symptoms include impaired respiration and muscular hypotonia, usually present at birth and leading to death during infancy or early childhood.1 Pneumothorax, defined as trapping of air in the pleural cavity, can be caused by surgery or can occur spontaneously.2 Pneumothorax has been reported only in a small number of cases with hereditary myopathies, but usually not spontaneously and never in XLMTM.