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 language||English (US)|
|State||Published - Dec 6 2005|
- Congenital myasthenic syndrome
- Genetic epidemiology
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health