X-Linked Myopathy with Excessive Autophagy
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
NORD is very grateful to 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.
Synonyms of X-Linked Myopathy with Excessive Autophagy
- No subdivisions found.
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.
Organizations related to X-Linked Myopathy with Excessive Autophagy
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.