Dept. of Neurology, All India Institute of Medical Sciences, Rishikesh, India; Dept. of Neurology, All India Institute of Medical Sciences, Bibinagar, Metropolitan Region, Hyderabad, India.
Dept. of Neurology, All India Institute of Medical Sciences, Rishikesh, India.
Clin Neurol Neurosurg. 2024 Oct;245:108492. doi: 10.1016/j.clineuro.2024.108492. Epub 2024 Aug 3.
Although previous studies have described phenomenological diagnoses, they lacked description of aetiological spectrum in patients visiting movement disorders (MD) service. Herein, we classify the MD phenomenology and describe aetiology wise distribution of each phenomenology in patients visiting a tertiary care movement disorders service.
Collected information included demographic profile (age of onset, age at presentation, gender, duration of illness before presentation), predominant MD phenomenology [such as parkinsonism, dystonia, ataxia, tremor, chorea, ballism, myoclonus, tics, stereotypy, restless legs syndrome (RLS) and others], diagnostic evaluations and detected aetiology.
This observational study included 1140 MD patients over a span of 5 years. The median (IQR) age of onset was 49 (35-60) years and age at presentation was 54 (40-65) years, with median duration of illness being 36 (18-72) months. Nearly two-third of patients were males (M:F=731:409). Parkinsonism (n=494, 43.3 %) was the most common MD phenomenology observed, followed by dystonia (n=219, 19.2 %), ataxia (n=125, 11 %), tremor (n=118, 10.4 %), myoclonus (n=73, 6.4 %), chorea (n=40, 3.5 %), spasticity (n=22, 1.9 %), tics (n=8, 0.7 %), and RLS (n=8, 0.7 %). Thirty-three (2.9 %) patients were grouped under miscellaneous MDs. Overall, neurodegenerative disorders (57.4 %) were the most common cause of MDs. Parkinson's disease, genetic dystonia, essential tremor, genetic ataxias, hemifacial spasm, and Huntington's disease were the most common aetiologies for parkinsonism, dystonia, tremor, ataxia, myoclonus, and chorea, respectively.
Parkinsonism was the most common phenomenology observed in MD patients, and was followed by dystonia, ataxia and tremor. Neurodegenerative disorders were the most common aetiology detected.
虽然先前的研究已经描述了现象学诊断，但它们缺乏对就诊于运动障碍（MD）服务的患者病因谱的描述。在此，我们对 MD 的现象学进行分类，并描述在就诊于三级运动障碍服务的患者中，每种现象学的病因学分布情况。
收集的信息包括人口统计学特征（发病年龄、就诊年龄、性别、就诊前病程）、主要 MD 现象学[如帕金森病、肌张力障碍、共济失调、震颤、舞蹈病、投掷症、肌阵挛、抽动症、刻板症、不宁腿综合征（RLS）和其他]、诊断评估和发现的病因。
这项观察性研究包括了 5 年内的 1140 名 MD 患者。发病年龄的中位数（IQR）为 49（35-60）岁，就诊年龄为 54（40-65）岁，病程的中位数为 36（18-72）个月。近三分之二的患者为男性（M：F=731:409）。观察到最常见的 MD 现象学是帕金森病（n=494，43.3%），其次是肌张力障碍（n=219，19.2%）、共济失调（n=125，11%）、震颤（n=118，10.4%）、肌阵挛（n=73，6.4%）、舞蹈病（n=40，3.5%）、痉挛（n=22，1.9%）、抽动症（n=8，0.7%）和 RLS（n=8，0.7%）。33（2.9%）名患者归入其他 MD 类别。总的来说，神经退行性疾病（57.4%）是 MD 最常见的病因。帕金森病、遗传性肌张力障碍、特发性震颤、遗传性共济失调、面肌痉挛和亨廷顿病分别是帕金森病、肌张力障碍、震颤、共济失调、肌阵挛和舞蹈病最常见的病因。
帕金森病是 MD 患者中最常见的现象学表现，其次是肌张力障碍、共济失调和震颤。神经退行性疾病是最常见的病因。
