A Familial Case of Myoclonus-Dystonia

J Korean Neurol Assoc > Volume 20(5); 2002 > Article

Journal of the Korean Neurological Association 2002;20(5): 509-514.

한 가족에서 나타난 간대성근경련-이긴장증

오승헌 , 김현숙 류철형 이진구 이명식

연세대학교 의과대학 영동세브란스병원 신경과

A Familial Case of Myoclonus-Dystonia

Seung-Hun Oh, M.D.

Department of Neurology, Yongdong Severance Hospital, Yonsei University College of Medicine

Abstract

"Background : Myoclonus-dystonia is a rare familial disease characterized by autosomal dominant inheritance, non-or slowly progressive axial myoclonus combined with dystonic posture, normal electroencephalography (EEG) finding, and dramatic response to alcohol intake. Methods : Clinical manifestations were studied in a family with myoclonus-dystonia. Response to alcohol intake was investigated in affected adult patients. Brain magnetic resonance imaging (MRI) and other laboratory examination were performed in 3 patients. Results : Eight (male: 5, female: 3) of the 14 biological family members through 4 generations were found to be affected by myoclonus-dystonia on neurological examinations. Another 5 members (male: 3, female: 2) were suspected to be affected in family history. All eight affect-ed members showed axial myoclonus affecting the neck, trunk, and proximal muscles of the limbs. Six of them also had dystonia affecting the neck or the distal part of the arm. Myoclonus and dystonia were ameliorated dramatically after small dose of alcohol intake. Brain MRI, EEG study, and ophthalmologic examination showed no abnormalities. Conclusions : Our patients showed clinical features compatible with myoclonus-dystonia. This is the first Korean fami-ly with myoclonus-dystonia.Key Words : Myoclonus-dystonia, Myoclonic dystonia, Essential myoclonus, Alcohol responsiveness"