Familial Spinal Muscular Atrophy wigh Autosomal Dominant Inheritance.
- Author:
Yeon Mi HWANG
1
;
In Cheol LEE
Author Information
1. Department of Neurology and pathology, University of Ulsan, Asan Medical Center.
- Publication Type:Case Report
- MeSH:
Family Characteristics;
Humans;
Korea;
Muscular Atrophy, Spinal*;
Penetrance;
Wills*
- From:Journal of the Korean Neurological Association
1990;8(1):154-158
- CountryRepublic of Korea
- Language:Korean
-
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.
