Clinical characteristics of Huntington's disease in 5 kindreds and review / 中国康复理论与实践

ABSTRACT

@#ObjectiveTo understand the clinical characteristics and therapy of Huntington's disease (HD).MethodsThe clinical characteristics of five typical kindreds with HD were analysed. The therapeutic progression after reviewing literature was summarized.ResultsFive kindreds inherited in an autosomal dominant manner. They were all adult-onset HD.Progressive motor dysfunction,cognitive decline,emotional and behavioral disturbance were the key clinical presentations. At an early stage, manifestations include subtle emotional symptoms and involuntary movements.The reason of visiting doctor was chorea. CT scans demonstrated brain atrophy.ConclusionsTypical clinical manifestation and clear family history may be enough to make primary diagnosis. Psychological evaluation at risk individual may help to diagnose early. Gene testing may confirm the diagnosis of HD. The drugs and occupational,physical therapy and psychotherapy for HD patients can help maintain the highest level of function and improve the quality of life.