Summary
This myopathy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. It has been described in about fifteen families The first manifestations appear typically in children around 5-10 years of age and include difficulty climbing stairs and running. Transmission is X-linked recessive; female carriers are asymptomatic or only mildly affected. The Xq28 locus has been associated with the disease. Muscle fibres are not necrotic but they show excessive autophagic activity and exocytosis of the phagocytosed material. Progression is very slow, longevity is not altered. Many patients need a wheelchair in their 6th decade of life. *Author: Orphanet (June 2006)*.
