Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology

I. Tournev, V. Guergueltcheva, I. Litvinenko, V. Bojinova, B. Ishpekova, P. Dimova, I. Ivanov, S. Cherninkova, B. Eymard, Andrew G Engel, H. Lochmuller, L. Kalaydjieva

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Seventy-one patients with congenital myasthenic syndrome type Ia were investigated from 37 non-related families (38 men and 33 women). The mean age of investigation of the patients is 14.5 years (age range 0-67 years). Ptosis and ophthalmoparesis are the most constant features of the disease regardless of the age of the patients. Ophthalmoparesis without diplopia is encountered in 71 patients and ptosis - in 70 patients. Fatigable weakness of the bulbar muscles is established in 53/71 patients and of the proximal limb muscles - in 57/71 patients. All patients show fluctuating weakness during the day and on exertion. Most of the patients report no progression of the disease. EMG study shows a decremental response at repetitive stimulation. The patients demonstrate a positive response to anticholi-nesterase treatment. The homozygous ε1267delG mutation was identified in all patients.

Original languageEnglish (US)
JournalPediatriya
Volume45
Issue number3
StatePublished - 2005

Fingerprint

Molecular Epidemiology
Ophthalmoplegia
Congenital myasthenic syndrome with episodic apnea
Diplopia
Muscle Weakness
Disease Progression
Extremities

Keywords

  • Congenital myasthenic syndrome
  • Genetic epidemiology
  • Phenotyping

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Tournev, I., Guergueltcheva, V., Litvinenko, I., Bojinova, V., Ishpekova, B., Dimova, P., ... Kalaydjieva, L. (2005). Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology. Pediatriya, 45(3).

Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology. / Tournev, I.; Guergueltcheva, V.; Litvinenko, I.; Bojinova, V.; Ishpekova, B.; Dimova, P.; Ivanov, I.; Cherninkova, S.; Eymard, B.; Engel, Andrew G; Lochmuller, H.; Kalaydjieva, L.

In: Pediatriya, Vol. 45, No. 3, 2005.

Research output: Contribution to journalArticle

Tournev, I, Guergueltcheva, V, Litvinenko, I, Bojinova, V, Ishpekova, B, Dimova, P, Ivanov, I, Cherninkova, S, Eymard, B, Engel, AG, Lochmuller, H & Kalaydjieva, L 2005, 'Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology', Pediatriya, vol. 45, no. 3.
Tournev I, Guergueltcheva V, Litvinenko I, Bojinova V, Ishpekova B, Dimova P et al. Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology. Pediatriya. 2005;45(3).
Tournev, I. ; Guergueltcheva, V. ; Litvinenko, I. ; Bojinova, V. ; Ishpekova, B. ; Dimova, P. ; Ivanov, I. ; Cherninkova, S. ; Eymard, B. ; Engel, Andrew G ; Lochmuller, H. ; Kalaydjieva, L. / Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology. In: Pediatriya. 2005 ; Vol. 45, No. 3.
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