[Congenital myasthenic syndromes; French experience].
Congenital myasthenic syndromes CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromuscular transmission. The associated muscular weakness is exacerbated by exertion and usually starts during infancy/childhood In 2002 a national Congenital Myasthenic Syndromes Network was created in France, composed of neurologists, neuropediatricians, pathologists, molecular geneticists and neurobiologists. The network has now identified nearly 300 cases of CMS, as well as three new culprit genes. Based on our personal experience and data from the most recent studies, we describe the 18 principal culprit genes so far identified, along with diagnostic pitfalls, the disease course, prognosis and treatment. The underlying genetic defect remains to be identified in nearly half of CMS patients.
Bruno
B
Eymard
Daniel
D
Hantaï
Emmanuel
E
Fournier
Sophie
S
Nicole
Damien
D
Sternberg
Pascale
P
Richard
Michel
M
Fardeau
D003937:Diagnosis, Differential; D018450:Disease Progression; D005602:France / Q000453:epidemiology; D006801:Humans; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D011379:Prognosis; D011978:Receptors, Nicotinic / Q000235:genetics
C523021:CHRNA1 protein, human; C504423:CHRNE protein, human; D011978:Receptors, Nicotinic