A Case of Paramyotonia Congenita.
- Author:
Young Chul YOON
1
;
Sei Hee CHANG
;
Dong Suk HAM
;
Kang Kon LEE
;
Oh Sang KWON
;
Doo Eung KIM
;
Kwang Woo LEE
Author Information
1. Department of Neurology, College of Medicine, Chungang University, Korea.
- Publication Type:Brief Communication
- Keywords:
paramyotonia congenital myotonic discharge;
cold-induced stiffness
- MeSH:
Action Potentials;
Adult;
Biopsy;
Extremities;
Humans;
Male;
Mothers;
Muscle Weakness;
Muscular Diseases;
Myotonia;
Myotonic Disorders*;
Needles;
Neurologic Examination;
Quadriceps Muscle;
Siblings;
Sodium Channels
- From:Journal of the Korean Neurological Association
1995;13(1):151-156
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
