1.A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
Ki Wha CHUNG ; Da Hye YOO ; Soo Jung LEE ; Byung Ok CHOI ; Sang Soo LEE
Journal of Clinical Neurology 2016;12(4):509-511
No abstract available.
Humans
;
Myotonia Congenita*
;
Myotonia*
2.Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia
Aryun KIM ; Mihee JANG ; Han Joon KIM ; Yoon KIM ; Dae Seong KIM ; Jin Hong SHIN ; Beomseok JEON
Journal of Movement Disorders 2018;11(1):49-51
No abstract available.
Dyskinesias
;
Myotonia Congenita
;
Myotonia
3.A Case of Myotonia Dystrophy.
Yong Baek KWON ; Seung Kyue LEE ; Chang Joon KO ; Kyue Rae KIM
Journal of the Korean Neurological Association 1983;1(1):76-80
Recently, we experienced a case of myotonia dystrophy at Pediatric department of Yonsei Medical School. And we are presenting the case we experienced with reviewing the literatures.
Myotonia*
;
Schools, Medical
4.Hashimoto Thyroiditis Presenting with a Transient Myotonia
Sang Soo LEE ; Minju CHA ; Minju YEO
Journal of the Korean Neurological Association 2018;36(1):49-51
No abstract available.
Hashimoto Disease
;
Myotonia
5.Delayed Relaxation (Pseudomyotonia) as the Only Clinical Manifestation of Chronic Inflammatory Demyelinating Polyneuropathy
Sung Rok LEE ; Sang Gyun PARK ; Jung Im SEOK
Journal of the Korean Neurological Association 2018;36(4):402-404
No abstract available.
Diagnosis
;
Myotonia
;
Polyneuropathies
;
Relaxation
6.Myotonia dystrophica: case report of 1 family.
Jong Ha LEE ; Hee Sang KIM ; Kyung Hoi AHN
Journal of the Korean Academy of Rehabilitation Medicine 1993;17(1):134-139
No abstract available.
Humans
;
Myotonia*
;
Myotonic Dystrophy*
7.A Case of Becker's Type Congenital Myotonia.
Sung Hwan YUN ; Jung Sang HAH ; Jun LEE
Yeungnam University Journal of Medicine 1999;16(1):125-130
Congenital myotonia is a hereditary disorder of the skeletal muscle. The most characteristic features of the disease are myotonia and variable muscular hypertrophy. Molecular biologic investigations have revealed that mutations in the gene of the human skeletal muscle chloride ion channel protein are a cause of the disease. The Becker's type congenial myotonia is clinically similar to the autosomal dominantly inherited congenital myotonia (Thomsen's disease). Both disorders are characterized electrophysiologically by increased excitability of muscle fibers, reflected in clinical myotonia. In general, Becker's type congenital myotonia is more severe than Thomsen's disease in muscular hypertrophy and weakness. The authors recently experienced a 25-year-old female patient who has no family-related disease history and who has conspicuous muscular hypertrophy and the stiffness with muscles which occurred from the age of 3 or 4. Clinically she showed the authors a percussion myotonia. On electrophysiological study, exercise and repetitive stimulation of the abductor digiti quinti muscle disclosed a decline in the compound muscle action potential. Biopsy of biceps muscle revealed enlargement of muscle fibers with marked nuclear internalization. After the oral taking the Mexiletine, the patient showed a favorable turn a little with her stiffness of muscles. So we authors are reporting one case of Becker's type congenital myotonia with review of literatures.
Action Potentials
;
Adult
;
Biopsy
;
Chloride Channels
;
Female
;
Humans
;
Hypertrophy
;
Mexiletine
;
Muscle, Skeletal
;
Muscles
;
Myotonia
;
Myotonia Congenita*
8.Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita.
Jin Sung PARK ; Sun Jae HWANG ; Jin Hong SHIN
Journal of the Korean Neurological Association 2016;34(3):220-223
Myotonia congenita (MC) is a hereditary disease of the chloride channels of skeletal muscle caused by mutation of CLCN1. It characteristically manifests as delayed relaxation of the skeletal muscle or myotonia. It has a wide phenotypic variability, ranging from asymptomatic to severe disability. However, it is uncommon for a phenotypic difference to appear within a family. We report the first Korean family with the p.A313T mutation exhibiting marked phenotypic variability.
Chloride Channels
;
Genetic Diseases, Inborn
;
Humans
;
Muscle, Skeletal
;
Myotonia Congenita*
;
Myotonia*
;
Relaxation
9.Two Cases of Becker's Type Congenital Myotonia.
In Soo MOON ; Dae Soo JUNG ; Kyu Hyun PARK
Journal of the Korean Neurological Association 1996;14(2):605-611
Congenital myotonia is a benign familial disorder, main problem is muscle stiffness, delayed relaxation of skeletal muscles after voluntary contraction or following mechanical or electrical stimulation. Although weakness is always present with progression of myotonic dystrophy, many patients with myotonia congenita never develop weakness. In the autosomal dominantly inherited form of congenital myotonia (Thomsen's disease), symptoms revolve around myotonia but weakness is not present. However, in the autosomal recessive (Becker's) type congenital myotonia, mild weakness and marked muscle hypertrophy is common. We report two cases of sporadic developing Becker's type congenital myotonia with electrophysiologic and muscle biopsy findings and review of literatures.
Biopsy
;
Electric Stimulation
;
Humans
;
Hypertrophy
;
Muscle, Skeletal
;
Myotonia
;
Myotonia Congenita*
;
Myotonic Dystrophy
;
Relaxation
10.Myotonia Dystrophica: A Case Report
Joon Young KIM ; Young Joe KIM ; Byeong Yeon SEONG ; Moon Ho HWANG
The Journal of the Korean Orthopaedic Association 1985;20(1):195-199
Myotonia dystrophica(Synonym: Myotonia atrophica, Dystrophia myotonia, Steinert's disease) is a autosomal dominant hereditary multisystemic disorder involving several organs besides skeletal muscle, and commonly called with myotonia congenita, paramyotonia congenita as myotonia. Although most cases are of adult onset, where a mother has the disease, neonatal dystrophia myotonia can occur in her offspring. The main feature is a steadily progressive muscle dystrophy, complicated by myotonia, which is a failure of muscles to relax normally after a forceful contraction. Steinert in 1909 was the first to report the finding of atrophic testes and baldness in patients with myotonia dystrophica, and the other clinical feature of myotonia dystrophica were reported by many authors after that time. We are reporting a case of myotonia dystrophica, which showing familial history with brief review of literature.
Adult
;
Alopecia
;
Humans
;
Mothers
;
Muscle, Skeletal
;
Muscles
;
Myotonia Congenita
;
Myotonia
;
Myotonic Disorders
;
Myotonic Dystrophy
;
Testis