Autosomal dominant muscle cramp syndrome in a Japanese family. Issue 1 (1st July 1999)

• Record Type: Journal Article
• Authors: Chiba, S; Saitoh, M; Hatanaka, Y; Kashiwagi, M; Imai, T; Matsumoto, H; Minami, R
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 67:Issue 1(1999)
• Page Start: 116
• Page End: 119
• Publication Date: 1999-07-01
• Subjects: autosomal dominant inheritance -- muscle cramp -- polyneuropathy; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.67.1.116
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : OBJECTIVES: To identify the clinical, electrophysiological, histological, and genetic characteristics of a Japanese family with a muscle cramp syndrome. METHODS: Fourteen patients (eight men, six women) were studied in four generations of a single family. Electrophysiological examinations were performed in four cases and muscle and nerve biopsies were performed on the propositus. RESULTS: The mode of inheritance seemed to be autosomal dominant. The cramps occurred during both exertion and at rest, and during sleep. Electromyographic examination indicated a neurogenic aetiology. There was a decreased number of large myelinated fibres in the sural nerve, and fibre type grouping in the quadriceps femoris muscle biopsy. CONCLUSIONS: The autosomal dominant muscle cramp syndrome in this family is probably caused by a polyneuropathy.