Pueschel S M, Friedman J H, Shetty T
Department of Pediatrics, Rhode Island Hospital, Providence.
Childs Nerv Syst. 1992 Mar;8(2):61-6. doi: 10.1007/BF00298440.
Myoclonic dystonia is a rare disorder that occurs in an hereditary and a sporadic form. The autosomal-dominantly inherited form is responsive to alcohol but not to other drugs. The sporadic form has been relatively resistant to drug treatment. We report a young man with myoclonic dystonia who displayed only little response to alcohol but improved significantly with a combination of sodium valproate for myoclonus and trihexiphenidyl hydrochloride for dystonia. His rehabilitation, however, was confounded by public authorities who thought the patient's appearance was indicative of drug use.
肌阵挛性肌张力障碍是一种罕见的疾病,以遗传性和散发性形式出现。常染色体显性遗传形式对酒精有反应,但对其他药物无反应。散发性形式对药物治疗相对耐药。我们报告一名患有肌阵挛性肌张力障碍的年轻男子,他对酒精仅有轻微反应,但联合使用丙戊酸钠治疗肌阵挛和盐酸苯海索治疗肌张力障碍后有显著改善。然而,他的康复受到公共当局的困扰,当局认为患者的外表表明其有吸毒行为。