HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Trudell, R. G. Articles by Griggs, R. C. Search for Related Content PubMed PubMed Citation Articles by Trudell, R. G. Articles by Griggs, R. C.

Acetazolamide-responsive myotonia congenita

Department of Neurology (Drs. Trudell and Griggs), University of Rochester, Rochester, NY, and the Department of Neurology (Mr. Kaiser), Washington University, St. Louis, MO.

We have studied 14 patients from a kindred with an auto-somal dominant form of myotonia, with features differing from most cases of autosomal dominant or recessive myotonia congenita. All patients had painful muscle stiffness that was provoked by fasting and oral potassium administration and was relieved by carbohydrate-containing foods. Muscle biopsies showed the presence of type 1, 2A, and 2B fibers, as opposed to the absence of type 2B fibers seen in some patients with myotonia congenita. Acetazolamide was dramatically effective in alleviating myotonia in all patients and was more effective than other antimyotonic agents.

Address correspondence and reprint requests to Dr. Griggs, Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 673, Rochester, NY 14642.

Presented in part at the thirty-seventh annual meeting of the American Academy of Neurology, Dallas, TX, April 1985.

Supported in part by grants from the USPHS Division of Research Resources (RR 00044) and the Muscular Dystrophy Association. Dr. Trudell was supported by a Clinical Fellowship from the Muscular Dystrophy Association.

Received April 11, 1986. Accepted for publication in final form June 24, 1986.

This article has been cited by other articles:

				E. Rossignol, J. Mathieu, I. Thiffault, M. Tetreault, M. -J. Dicaire, N. Chrestian, N. Dupre, J. Puymirat, and B. Brais A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians Neurology, November 13, 2007; 69(20): 1937 - 1941. [Abstract] [Full Text] [PDF]

				J. Weinberg, L. A. Curl, R. W. Kuncl, and E. G. McFarland Occult Presentation of Myotonia Congenita in a 15-Year-Old Athlete Am. J. Sports Med., July 1, 1999; 27(4): 529 - 531. [Full Text] [PDF]

				R. W Orrell, K. Jurkat-Rott, F. Lehmann-Horn, and R. J M Lane Familial cramp due to potassium-aggravated myotonia J. Neurol. Neurosurg. Psychiatry, October 1, 1998; 65(4): 569 - 572. [Abstract] [Full Text]

				N. Celebisoy, Z. Colakoglu, Y. Akbaba, and N. Yuceyar Continuous muscle fibre activity: a case treated with acetazolamide J. Neurol. Neurosurg. Psychiatry, February 1, 1998; 64(2): 256 - 258. [Abstract] [Full Text] [PDF]

				L. J. Ptacek, K. J. Johnson, and R. C. Griggs Genetics and Physiology of the Myotonic Muscle Disorders N. Engl. J. Med., February 18, 1993; 328(7): 482 - 489. [Full Text]