| Paramyotonia Congenita 1예 |
| 윤영철, 장세희, 함동석, 이강건, 권오상, 김두응, 이광우 |
| 중앙대학교 신경과, 서울대학교 신경과 |
| A Case of Paramyotonia Congenita |
| Young Chul Yoon, M.D., Sei Hee Chang, M.D., Dong Suk Ham, M.D., Kang Kon Lee, M.D., Oh Sang Kwon, M.D., Doo Eung Kim, M.D., Kwang Woo Lee, M.D. |
| Department of Neurology, College of Medicine, Ch;unang University and Seoul National University |
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| Abstract |
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Paramyotonia congenita (PMC), an autosomal dominant non-progressive muscle disorder, is characterised by cold-induced stiffness followed by muscle weakness. The weakness is considered to be caused by a dysfunction of the sodium channel in muscle fiber.
We report a 37-year-old male patient with PMC, complaining of episodic myotonia and
motor weakness on cold exposure. In this patient, we performed clinical and
neurological examination, electrophysiologic examination and muscle biopsy.
On electrophysiologic study, needle EMG showed spontaneous myotonic discharges at
room temperature but disappeared after cooling. Amplitude of compound action potential
in abductor pollicis brevis muscle decreased significantly after cooling the tested
extremity. Muscle biopsy showed a minimal variation of muscle fiber diameters,
internal nuclei, chained nuclei, occasional atrophic fibers in vastus lateralis muscle. His
mother, his son, three of six siblings, and five of eleven nephewes are affected with
same symptomes.
Key Words: paramyotonia congenital myotonic discharge, cold-induced stiffness |
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