Breimer Per, Petersén Åsa, Widner Håkan
överläkare, VO vuxenpsykiatri Helsingborg.
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Lakartidningen. 2021 Jan 19;118:20126.
Huntington disease (HD) is a progressive neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. It is inherited in an autosomal dominant fashion with full penetrance. Around 15% of cases arise from spontaneous expansion of the CAG repeat. The clinical presentation includes involuntary movements (chorea) with dysarthria and dysphagia as well as cognitive and psychiatric symptoms and weight loss. The combination of these symptoms and signs should lead to further investigations regarding HD, even in absence of a known family history. Psychiatric and cognitive symptoms often manifest around 15 years before the motor disorder and the disease leads to premature death. HD is likely underdiagnosed as many individuals present with psychiatric and behavioral problems for a long time. No disease modifying treatment is available today but there are a number of clinical trials ongoing aiming at slowing the disease process. The successful progress of these trials will give urgency to correct diagnosis of HD.
亨廷顿舞蹈症(HD)是一种由亨廷顿基因中CAG重复序列扩增引起的进行性神经退行性疾病。它以常染色体显性方式遗传,具有完全外显率。约15%的病例源于CAG重复序列的自发扩增。临床表现包括伴有构音障碍和吞咽困难的不自主运动(舞蹈症)以及认知和精神症状和体重减轻。即使没有已知的家族病史,这些症状和体征的组合也应促使对HD进行进一步检查。精神和认知症状通常在运动障碍出现前约15年表现出来,且该疾病会导致过早死亡。由于许多个体长期存在精神和行为问题,HD可能未得到充分诊断。目前尚无改善病情的治疗方法,但有多项正在进行的临床试验旨在减缓疾病进程。这些试验的成功进展将使HD的正确诊断变得紧迫。