Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Neurology Unit, Hospital Carlos van Buren, Valparaíso, Chile.
Ann Clin Transl Neurol. 2024 Oct;11(10):2805-2810. doi: 10.1002/acn3.52193. Epub 2024 Sep 6.
Juvenile-onset Huntington's disease (HD) is a rare subset of HD with symptom-onset before the age of 18. In contrast to the adult population, children present early-on with behavioral, psychiatric, and cognitive symptoms, in addition to a diverse spectrum of movement disorders. This poses a distinct challenge in diagnosis and management. We here describe the spectrum of movement disorders, accompanied with detailed video recordings, in seven cases of juvenile-onset HD. Our findings highlight early cognitive and behavioral symptoms, preceding motor symptoms. The diverse movement disorder phenotypes included dystonia, Parkinsonism, myoclonus, and chorea, findings which underscore the heterogeneity of presenting symptoms.
青少年发病亨廷顿病(HD)是 HD 的一个罕见亚型,其症状在 18 岁之前出现。与成人人群相比,儿童除了表现出多种多样的运动障碍外,还会出现早期的行为、精神和认知症状。这在诊断和管理方面带来了明显的挑战。我们在这里描述了 7 例青少年发病 HD 的运动障碍谱,伴有详细的视频记录。我们的发现强调了早期的认知和行为症状先于运动症状,并且还强调了表现症状的异质性,其包括了肌张力障碍、帕金森病、肌阵挛和舞蹈症等多种运动障碍表型。