Publicação
key points in differential diagnosis in myasthenic syndromes
| Resumo: | Neuromuscular junction disorders are a heterogeneous group most often caused by imune or genetic abnormalities. They comprise Myasthenia Gravis, Lambert-Eaton Syndrome and Congenital Myasthenic Syndromes. Despite affecting different parts of the synapse, they share clinical and neurophysiological features, posing a diagnostic challenge. These disorders can be divided in subgroups, according to the causing antibody or genetic defect. However, there are no established clinical criteria and the accurate diagnosis is highly dependent on the recognition of phenotypes. The identification of clues both in the history and examination may be precious to the correct diagnosis. Treatment depends on the underlying abnormality and the prognosis is generally good. However, more severe forms of Myasthenia Gravis and paraneoplastic: Lambert-Eatom Myasthenic Syndrome are recognized. |
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| Autores principais: | Machado, S |
| Outros Autores: | Pires, C; Manji, H |
| Assunto: | Congenital myasthenic syndromes Myasthenia gravis Differential diagnosis Síndromes miasténicos congénitos Miastenia gravis Diagnóstico diferencial |
| Ano: | 2013 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Hospital Prof. Dr. Fernando Fonseca E.P.E. |
| Idioma: | inglês |
| Origem: | Repositório do Hospital Prof. Doutor Fernando Fonseca |
| Resumo: | Neuromuscular junction disorders are a heterogeneous group most often caused by imune or genetic abnormalities. They comprise Myasthenia Gravis, Lambert-Eaton Syndrome and Congenital Myasthenic Syndromes. Despite affecting different parts of the synapse, they share clinical and neurophysiological features, posing a diagnostic challenge. These disorders can be divided in subgroups, according to the causing antibody or genetic defect. However, there are no established clinical criteria and the accurate diagnosis is highly dependent on the recognition of phenotypes. The identification of clues both in the history and examination may be precious to the correct diagnosis. Treatment depends on the underlying abnormality and the prognosis is generally good. However, more severe forms of Myasthenia Gravis and paraneoplastic: Lambert-Eatom Myasthenic Syndrome are recognized. |
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