Cognitive Impairment in Schwartz–Jampel Syndrome: A Case Study
✍ Scribed by C.M. Paradis; F. Gironda; M. Bennett
- Book ID
- 115592582
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 22 KB
- Volume
- 56
- Category
- Article
- ISSN
- 0093-934X
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## Abstract A case of Schwartz‐Jampel syndrome with electrical, radiographic, biopsy, and pharmacological studies is presented along with a summary of the 12 other reported cases. Radiological study showed nonspecific but definite abnormalities. The muscle biopsy revealed myopathic and neurogenic f
Recent studies demonstrated the existence of a genetically distinct, usually lethal form of the Schwartz-Jampel syndrome (SJS) of myotonia and skeletal dysplasia, which we called SJS type 2. This disorder is reminiscent of another rare condition, the Stu ¨ve-Wiedemann syndrome (SWS), which comprises