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

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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
Issue number3
StatePublished - 2005


  • Congenital myasthenic syndrome
  • Genetic epidemiology
  • Phenotyping

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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