Gómez-Gosálvez F, Smeyers P, Escrivá P, Clemente F, Mallada J, Mulas F, Palao F, Millet E
Servicio de Pediatria, Hospital Virgen de los Lirios, Alcoi, Alicante, España.
Rev Neurol. 1997 Dec;25(148):1925-7.
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia is a type of autosomal dominant cerebellar ataxia which locus was found to be linked to the short arm of chromosome 12 and the etiology is unknown.
A 12 years-old man who suffered from childhood daily episodes of sudden attacks sport induced with giddiness, ataxia and dysarthria for minutes. The familial history shows the same clinical findings in three generations. Intercritical general neurologic evaluation is otherwise normal. The following tests were performed with normal results: Biochemistry, electroencephalogram, cerebral magnetic resonance imaging. The electromyography showed myokymic discharges. The patient's symptoms improve on treatment with acetazolamide immediately.
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia with myokymia needs to think on it to be diagnosed. No typical complementary test (electromyography exception) induces to base diagnosis in the clinical findings, the familial history and the fast clinical improvement after starting treatment with acetazolamide.
乙酰唑胺反应性遗传性阵发性小脑共济失调伴肌束震颤是一种常染色体显性遗传性小脑共济失调，其基因座位于12号染色体短臂，病因不明。
一名12岁男性，自幼每天发作数次因运动诱发的突然发作，出现头晕、共济失调和构音障碍，持续数分钟。家族史显示三代人有相同临床表现。发作间期的一般神经学评估结果正常。进行了以下检查，结果均正常：生化检查、脑电图、脑磁共振成像。肌电图显示肌束震颤放电。患者使用乙酰唑胺治疗后症状立即改善。
乙酰唑胺反应性遗传性阵发性小脑共济失调伴肌束震颤需要考虑进行诊断。没有典型的辅助检查（肌电图除外）可依据临床表现、家族史及开始使用乙酰唑胺治疗后的快速临床改善来确立诊断。
