Movement Disorders, Neurological Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
Parkinsonism Relat Disord. 2020 Dec;81:188-189. doi: 10.1016/j.parkreldis.2020.10.046. Epub 2020 Nov 5.
This is a case of young man who has severe generalized dystonic spells with moaning with severe parkinsonism, which improves with dopaminergic medications. Patient was found to be DNAJC6 related juvenile Parkinson's disease. This case adds to the phenotypic variability of the DNAJC6 juvenile Parkinson's disease as severe dystonic spells and moaning has not been reported previously. Early diagnosis and symptomatic treatment with dopaminergic medications helps significantly to improve the quality of life.
这是一个患有严重全身性肌张力障碍发作伴呻吟的年轻男性病例，伴有严重帕金森病，对多巴胺能药物治疗有效。患者被发现与 DNAJC6 相关的青少年帕金森病有关。该病例增加了 DNAJC6 青少年帕金森病的表型变异性，因为以前没有报道过严重的肌张力障碍发作和呻吟。早期诊断和多巴胺能药物的对症治疗有助于显著提高生活质量。
