A syndrome of progressive muscle spasm, alopecia, and diarrhea.
A syndrome of progressive muscle spasm, alopecia, and diarrhea was seen in 15 patients. The syndrome was characterized by painful intermittent muscle spasm, alopecia, amenorrhea, and malabsorption, and was sometimes associated with epiphyseal destruction and retarded growth. Symptoms began at age 10 and were more common in women than men. Muscle cramps affected the limbs first and then, several years after onset, the neck, trunk, and masticatory muscles. The course was progressive and led to malnutrition. Four patients died from 5 to 18 years after onset. Autopsy revealed polypoid changes throughout the gastrointestinal tract.
D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000150:complications; D002648:Child; D003967:Diarrhea / Q000150:complications; D004576:Electromyography; D005260:Female; D006801:Humans; D007414:Intestinal Neoplasms / Q000150:complications / Q000473:pathology; D007417:Intestinal Polyps / Q000150:complications / Q000473:pathology; D008286:Malabsorption Syndromes / Q000150:complications; D008297:Male; D009132:Muscles / Q000473:pathology; D011127:Polyps / Q000150:complications / Q000473:pathology; D013035:Spasm / Q000150:complications / Q000503:physiopathology; D013274:Stomach Neoplasms / Q000150:complications / Q000473:pathology; D013577:Syndrome