NORD gratefully acknowledges Dr. Janice Holton, MB, ChB, PhD, FRCPath, Senior Lecturer and Honorary Consultant Neuropathologist, Division of Neuropathology, Institute of Neurology, Queen Square, London, for assistance in the preparation of this report.
X-linked myopathy with excessive autophagy (XMEA) is an extremely rare genetic disorder characterized by muscle disease (myopathy). The disorder is fully expressed in males only and is characterized by slowly progressive muscle weakness, especially in the legs. Onset is usually during childhood often between 5-10 years of age. XMEA occurs due to mutations of an unidentified gene on the X chromosome. The disorder is inherited an X-linked recessive trait.
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