Hallervorden-Spatz disease

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Abstract
A family in which members (3 males, 2 female twins) were affected by the Hallervorden-Spatz disease was studied. The characteristics of the condition were analyzed and compared with other cases. Intrafamilial and interfamilial variations were analyzed, and it was established that the latter contributed most to the overall variation of the condition. This is probably an autosomal recessive condition (P > 0.23 .+-. 0.08), and it may have originated in Europe and may be caused by an inborn error of metabolism related to neuromelanin and the dopaminergic system. The condition affects the muscular tone and voluntary movements progressively, making voluntary coordinated movements, and chewing and swallowing almost impossible. In the last part of the disease progression, mental deterioration, emaciation, severe feeding difficulties and visual impairment are common clinical manifestations. The ages of both onset and death are distributed in a unimodal curve. The mean survival time after diagnosis is 11.18 .+-. 7.8 yr.