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Danon Disease was first described in 1981 by Dr. M.J. Danon and is caused by a deficiency in the lysosome-associated membrane protein 2 (LAMP2), a glycoprotein molecule that is normally located on the membrane surrounding the lysosome. The gene for LAMP-2 is on the X chromosome and therefore Danon Disease affects only males. The disorder is characterized by heart problems, mental retardation and muscle weakness and those affected usually die of cardiac arrhythmia or heart failure in the third decade of life. Heart transplantation is the only curative treatment at this moment for the fatal cardiac component of Danon disease. Even among Lysosomal Storage Diseases, Danon Disease is extremely rare, as only 15 cases have been proven to date. |