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, A. Engel, H. Lochmuller, L. Kalaydjieva

Research output: Contribution to journalArticle

1 Scopus citations

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)
Pages (from-to)17-20+3
JournalPediatriya
Volume45
Issue number3
StatePublished - Dec 6 2005

Keywords

  • Congenital myasthenic syndrome
  • Genetic epidemiology
  • Phenotyping

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology'. Together they form a unique fingerprint.

  • Cite this

    Tournev, I., Guergueltcheva, V., Litvinenko, I., Bojinova, V., Ishpekova, B., Dimova, P., Ivanov, I., Cherninkova, S., Eymard, B., Engel, A., Lochmuller, H., & Kalaydjieva, L. (2005). Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology. Pediatriya, 45(3), 17-20+3.