Four cases of myotonia congenita in a Turkish family*

Myotonia congenita is a rare muscular disorder with autosomal dominant or autosomal recessive inheritance, and is characterized by painless myotonia. A 44-year-old mother presented at our clinic with a son and a daughter, all sharing the same complaints of difficulty in relaxing their hands and beginning to walk, and spasms during chewing. The family had also another 16-year-old daughter, but she had no such complaints. The mother reported that her father and 2 sisters had the same disease, but that her brother was healthy. Their pedigree analysis revealed that the disease was present for 3 generations and had an autosomal dominant trait. During the neurologic examination of cases, action and percussion myotonia were observed in the hand, arm, and leg muscles. Her asymptomatic daughter had also generalized myotonia. Needle electromyography of all cases revealed generalized myotonic discharges in the muscles examined. The cases are presented due to the presence of MC in 3 generations of the family. This case study reveals that EMG studies are useful in determining myotonic disorders in asymptomatic cases.

Four cases of myotonia congenita in a Turkish family*

Myotonia congenita is a rare muscular disorder with autosomal dominant or autosomal recessive inheritance, and is characterized by painless myotonia. A 44-year-old mother presented at our clinic with a son and a daughter, all sharing the same complaints of difficulty in relaxing their hands and beginning to walk, and spasms during chewing. The family had also another 16-year-old daughter, but she had no such complaints. The mother reported that her father and 2 sisters had the same disease, but that her brother was healthy. Their pedigree analysis revealed that the disease was present for 3 generations and had an autosomal dominant trait. During the neurologic examination of cases, action and percussion myotonia were observed in the hand, arm, and leg muscles. Her asymptomatic daughter had also generalized myotonia. Needle electromyography of all cases revealed generalized myotonic discharges in the muscles examined. The cases are presented due to the presence of MC in 3 generations of the family. This case study reveals that EMG studies are useful in determining myotonic disorders in asymptomatic cases.

Kaynak Göster

Bibtex @ { tbtkmedical147451, journal = {Turkish Journal of Medical Sciences}, issn = {1300-0144}, eissn = {1303-6165}, address = {}, publisher = {TÜBİTAK}, year = {2010}, volume = {40}, pages = {155 - 158}, doi = {}, title = {Four cases of myotonia congenita in a Turkish family*}, key = {cite}, author = {Aygül, Recep and Özdemir, Gökhan and Kotan, Dilcan} }
APA Aygül, R , Özdemir, G , Kotan, D . (2010). Four cases of myotonia congenita in a Turkish family* . Turkish Journal of Medical Sciences , 40 (1) , 155-158 .
MLA Aygül, R , Özdemir, G , Kotan, D . "Four cases of myotonia congenita in a Turkish family*" . Turkish Journal of Medical Sciences 40 (2010 ): 155-158 <
Chicago Aygül, R , Özdemir, G , Kotan, D . "Four cases of myotonia congenita in a Turkish family*". Turkish Journal of Medical Sciences 40 (2010 ): 155-158
RIS TY - JOUR T1 - Four cases of myotonia congenita in a Turkish family* AU - Recep Aygül , Gökhan Özdemir , Dilcan Kotan Y1 - 2010 PY - 2010 N1 - DO - T2 - Turkish Journal of Medical Sciences JF - Journal JO - JOR SP - 155 EP - 158 VL - 40 IS - 1 SN - 1300-0144-1303-6165 M3 - UR - Y2 - 2021 ER -
EndNote %0 Turkish Journal of Medical Sciences Four cases of myotonia congenita in a Turkish family* %A Recep Aygül , Gökhan Özdemir , Dilcan Kotan %T Four cases of myotonia congenita in a Turkish family* %D 2010 %J Turkish Journal of Medical Sciences %P 1300-0144-1303-6165 %V 40 %N 1 %R %U
ISNAD Aygül, Recep , Özdemir, Gökhan , Kotan, Dilcan . "Four cases of myotonia congenita in a Turkish family*". Turkish Journal of Medical Sciences 40 / 1 (Ocak 2010): 155-158 .
AMA Aygül R , Özdemir G , Kotan D . Four cases of myotonia congenita in a Turkish family*. Turkish Journal of Medical Sciences. 2010; 40(1): 155-158.
Vancouver Aygül R , Özdemir G , Kotan D . Four cases of myotonia congenita in a Turkish family*. Turkish Journal of Medical Sciences. 2010; 40(1): 155-158.
IEEE R. Aygül , G. Özdemir ve D. Kotan , "Four cases of myotonia congenita in a Turkish family*", Turkish Journal of Medical Sciences, c. 40, sayı. 1, ss. 155-158, Oca. 2010
  • ISSN: 1300-0144
  • Yayın Aralığı: Yılda 6 Sayı
  • Yayıncı: TÜBİTAK

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