MITOCHONDRIAL ENCEPHALOMYOPATHY - VARIABLE CLINICAL EXPRESSION WITHINA SINGLE KINDRED

The clinical manifestations of mitochondrial encephalomyopathy are des cribed in four generations of a single kindred. The age of onset of ma jor neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in others, recurrent bouts of st atus epilepticus associated with focal neurological deficits and heada che, caused severe disability or death. Examples of all three adult fo rms of mitochondrial encephalomyopathy: MELAS, MERFF and Kearns Sayre syndrome, were represented within the kindred. Associated features inc luded deafness, short stature, non-insulin-dependent diabetes mellitus , migraine, peptic ulceration and severe constipation. The nt 3243 A-G MELAS mutation was detected in two members of the kindred. This study highlights the diversity of clinical expression of a mitochondrial mu tation within a single kindred.