A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings.
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 features. No drug was effective in reducing our patient's stiffness.
D001706:Biopsy; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000473:pathology*; D009222:Myotonia / Q000473:pathology*; D013577:Syndrome