J Korean Neurol Assoc.
1990 Jun;8(1):154-158.
Familial Spinal Muscular Atrophy wigh Autosomal Dominant Inheritance
- Affiliations
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- 1Department 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.
