Familial Spinal Muscular Atrophy wigh Autosomal Dominant ?Inheritance

J Korean Neurol Assoc > Volume 8(1); 1990 > Article

Journal of the Korean Neurological Association 1990;8(1): 154-158.

상염색체 우성으로 유전된 척수근위축증 한 가족예

황연미, 이인철

울산대학교 신경과, 해부병리학. 서울중앙병원 신경과, 해부병리학.

Familial Spinal Muscular Atrophy wigh Autosomal Dominant ?Inheritance

Yeon Mi Hwang,M.D., In Cheol Lee,M.D.

Department of Neurology and pathology, University of Ulsan, Asan Medical Center

Abstract

Familial occurrence of spinal muscular atrophy(SMA) is not ?infrequent. Various modes of inheritance of the SMA have been reported and autosomal recessive inheritance? appears the most frequent mode of transmission. A small number of observations indicate autosomal ?dominant inheritance with either complete or incomplete penetrance. To date, autosomal dominant ?SMA with complete penetrance in more than 4 generations has been reported very rarely. It is the Purpose of this report to decribe a family with ?familial SMA presenting as an autosomal dominant trait with occurrence in 4 subsequent generations. This ?may be the first report in Korea.