Congenital myasthenic syndromes.
J Clin Neurosci
; 16(1): 1-11, 2009 Jan.
Article
en En
| MEDLINE
| ID: mdl-19017561
ABSTRACT
Congenital myasthenic syndromes (CMS) are a heterogeneous group of uncommon, inherited disorders affecting the neuromuscular junction. The defects interfere with presynaptic, synaptic, or postsynaptic function and compromise neuromuscular transmission. Most patients with CMS have similar clinical features regardless of the underlying defect, but attention to clinical and electrodiagnostic parameters can narrow the diagnostic spectrum. Recent advances in our understanding of the cellular mechanisms underlying specific syndromes allow DNA testing for some forms of CMS. Diagnosis of CMS enables a rationale for management to be developed. Two cases of genetically determined CMS as well as an undiagnosed infant are presented to highlight the clinical and electrophysiological difficulties associated with the diagnosis and management of such syndromes.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Síndromes Miasténicos Congénitos
Límite:
Humans
Idioma:
En
Revista:
J Clin Neurosci
Asunto de la revista:
NEUROLOGIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Australia