We describe a 19-year-old woman with melorheostosis and osteopoikilosis (mixed sclerosing bone dysplasia). Her sister and mother had osteopoikilosis, but no evidence of melorheostosis. Isolated melorheostosis and melorheostosis with osteopoikilosis are sporadic disorders. Osteopoikilosis is an autos
Autosomal dominant motor system degeneration in a black family
β Scribed by Dr Joanna A. Cooper; Tsutomu Nakada; Robert T. Knight; Robert P. Friedland
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 323 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
β¦ Synopsis
Autosomal dominant motor system degeneration has been described primarily i n Portuguese families from the Azorean Islands. The symptoms include various combinations of ataxia, pyramidal and extrapyramidal signs, appendicular dystonias, tics, ophthalmoplegias, and peripheral neuropathies with amyotrophy. O n e non-Portuguese, non-Azorean black family has been described previously; this report describes a second such family affected by autosomal dominant motor system degeneration.
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