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

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

Neurology

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	17-20+3
Journal	Pediatriya
Volume	45
Issue number	3
State	Published - 2005

Keywords

Congenital myasthenic syndrome
Genetic epidemiology
Phenotyping

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

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title = "Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology",

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.",

keywords = "Congenital myasthenic syndrome, Genetic epidemiology, Phenotyping",

author = "I. Tournev and V. Guergueltcheva and I. Litvinenko and V. Bojinova and B. Ishpekova and P. Dimova and I. Ivanov and S. Cherninkova and B. Eymard and A. Engel and H. Lochmuller and L. Kalaydjieva",

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language = "English (US)",

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T1 - Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology

AU - Tournev, I.

AU - Guergueltcheva, V.

AU - Litvinenko, I.

AU - Bojinova, V.

AU - Ishpekova, B.

AU - Dimova, P.

AU - Ivanov, I.

AU - Cherninkova, S.

AU - Eymard, B.

AU - Engel, A.

AU - Lochmuller, H.

AU - Kalaydjieva, L.

PY - 2005

Y1 - 2005

N2 - 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.

AB - 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.

KW - Congenital myasthenic syndrome

KW - Genetic epidemiology

KW - Phenotyping

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M3 - Article

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SN - 0479-7876

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IS - 3

ER -

Congenital myasthenic syndrome type Ia - Clinical phenotyping and genetic epidemiology

Abstract

Keywords

ASJC Scopus subject areas

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