HUM-MOLGEN DIAGnostics/Clinical Research


familial myoclonus/ PT REQUEST

I am in my last year of undergraduate study and am currently working at the neurogenetics lab at the Kennedy Krieger Institute of Johns Hopkins University. I am performing biochemical genetic research on certain metabolic diseases and would like to find some information on one which affects my family. My family has what is known as familial myoclonus, but it is unlike any other strain of the disease. Baltic myoclonus and epileptic myoclonus have been ruled out. It is an autosomal dominant disease which was passed on by my father and exists in 2 of the 4 children in my family, my younger brother and sister. We have hit a dead end though, there is no more information which can be given to us by the doctors we have seen. Could anyone doing research or with any knowledge of the disorder please send me some information or a place where I could find it. The disease only seems to affect the motor cortex functions and causes sudden jerks. It however does not cause seizures or any mental abnormalities. My e-mail address is, please direct any comments to Chris. My sincere thanks,

Apparent patient location: Maryland, US