CHLORIDE CHANNEL MYOTONIA: STUDY OF FIVE CASES

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ASHRAFI M.R.; GHOFRANI M.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Journal: Iranian Journal of Pediatrics Year:2002 | Volume:12 | Issue:3 Page(s): 29-34

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Title

CHLORIDE CHANNEL MYOTONIA: STUDY OF FIVE CASES

Author(s)

ASHRAFI M.R. | GHOFRANI M. | Issue Writer Certificate

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Abstract

Chloride channel myotonia is a form of channelopathy, and myotonia is its main manifestation. Myotonia my be defined as delayed relaxation of skeletal muscle after its contraction. Decreased chloride conductance across the transverse tubular system, renders the muscle membrane hyper excitable and leads to repetitive firing, creating myotonia. Myotonia congenita is another name for chloride channel myotonia. Myotonia congentia appears in autosomal dominant type called Thomsen disease, autosomal recessive type called Becker disease, and a type with sporadic occurrence.Symptoms appear in the first or second decade of life. Repeated muscle contractions, the so called warm up, result in resolution of the myotonia stiffness. Muscles stiffness and hypertrophy is another finding at physical examination In this study we report on five patients, which had clinical and electrical signs of myotonia. Muscle hypertrophy and warm up phenomena were present in all cases. CPK measurement of all cases were normal. Two patients underwent muscle biopsy that showed only atrophy increased central nuclei. In three cases autosomal recessive inheritance (Becker), in one case autosomal dominant inheritance (Thomsen) and in one case sporadic occurrence was suggested. With respect to successful results of carbamazepine therapy in 4 patients, and being excellent in one of them, we suggest carbamazepine for the first choice of myotonia treatment.

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APA: Copy

ASHRAFI, M.R., & GHOFRANI, M.. (2002). CHLORIDE CHANNEL MYOTONIA: STUDY OF FIVE CASES. IRANIAN JOURNAL OF PEDIATRICS, 12(3), 29-34. SID. https://sid.ir/paper/75931/en

Vancouver: Copy

ASHRAFI M.R., GHOFRANI M.. CHLORIDE CHANNEL MYOTONIA: STUDY OF FIVE CASES. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2002;12(3):29-34. Available from: https://sid.ir/paper/75931/en

IEEE: Copy

M.R. ASHRAFI, and M. GHOFRANI, “CHLORIDE CHANNEL MYOTONIA: STUDY OF FIVE CASES,” IRANIAN JOURNAL OF PEDIATRICS, vol. 12, no. 3, pp. 29–34, 2002, [Online]. Available: https://sid.ir/paper/75931/en

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