A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features
R. DeLong and T. Siddique
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
We describe a large New England kindred bearing an autosomal dominant
syndrome of neurogenic amyotrophy with variable expression. Features
include congenital absence of muscles, progressive scapuloperoneal atrophy,
laryngeal palsy, and progressive distal weakness and atrophy. The pattern
of expression and progression varies in different branches of the family.
Males are more severely affected than females. Disease expression is more
severe and progressive in succeeding (third and fourth) generations. This
striking increase in severity and progressivity in succeeding generations
may have genetic implications. The syndrome most resembles the Stark-Kaeser
chronic scapuloperoneal amyotrophy, but is considered a distinct entity.
