Four cases of myotonia congenita in a Turkish family*

Recep AYGÜL; Gökhan ÖZDEMİR; Dilcan KOTAN

Makale detayları

Four cases of myotonia congenita in a Turkish family*

Yazarlar:

Recep AYGÜL | Gökhan ÖZDEMİR | Dilcan KOTAN

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2010 Vol.40 Issue 1, pp.155-158

Belge Tipi:

Makale

Yayın Tarihi:

12/2009

Belge Dili:

Türkçe

Document ID (Org No.):

2000755236

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Anahtar kelimeler:

Özet:

 

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.

 

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.

Makale detayları

Four cases of myotonia congenita in a Turkish family*

Yazarlar:

Recep AYGÜL | Gökhan ÖZDEMİR | Dilcan KOTAN

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2010 Vol.40 Issue 1, pp.155-158

Belge Tipi:

Makale

Yayın Tarihi:

12/2009

Belge Dili:

Türkçe

Document ID (Org No.):

2000755236

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Key words: Myotonia

Thomsen's disease

autosomal dominant inheritance

Sayı

Makale detayları

Four cases of myotonia congenita in a Turkish family*

Yazarlar: Recep AYGÜL | Gökhan ÖZDEMİR | Dilcan KOTAN

Yayıncı: TUBITAK

Dergi: Turkish Journal of Medical Sciences 2010 Vol.40 Issue 1, pp.155-158

Belge Tipi: Makale

Yayın Tarihi: 12/2009

Belge Dili: Türkçe

Document ID (Org No.): 2000755236

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

Key words: Myotonia

Thomsen's disease

autosomal dominant inheritance

Sayı

Yazarlar:

Recep AYGÜL | Gökhan ÖZDEMİR | Dilcan KOTAN

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2010 Vol.40 Issue 1, pp.155-158

Belge Tipi:

Makale

Yayın Tarihi:

12/2009

Belge Dili:

Türkçe

Document ID (Org No.):

2000755236

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144