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EnglishCongenital fibrosis of the extraocular muscles (CFEOM) is a relatively rare eye movement disorder typically inherited in an autosomal dominant fashion. Affected individuals show congenital, bilateral ptosis and restrictive external ophthalmoplegia, with their eyes partially or completely fixed in an infraducted (eownward) and strabismic position. It remains unclear whether this disorder results from a primary myopathic or from a neuropathic process, and wherther these two processes can be pathophysiologically related to one another. We performed the electromyography with quantitative analysis (QEMG) of the extraocular muscles (EOM) in three members of a family affected by CFEOM whose disease gene maps to the locus on chromosome 12 (CFEOM1). QEMG data from the EOM of the affected members provides a furgher demonstration of a neuropathic process for CFEOM1 involving the superior and inferior division of the oculomotor nerve.
| Titolo: | Quantitative E.M.G. of E.O.M. in patients with congenital fibrosis of the extraocular muscles (CFEOM1). | |
| Autore/i: | SCHIAVI, COSTANTINO; BELLUSCI C.; CAMPOS, EMILIO | |
| Autore/i Unibo: | ||
| Anno: | 2004 | |
| Titolo del libro: | Transactions 28th European Strabismological Association Meeting | |
| Pagina iniziale: | 205 | |
| Pagina finale: | 208 | |
| Abstract: | Congenital fibrosis of the extraocular muscles (CFEOM) is a relatively rare eye movement disorder typically inherited in an autosomal dominant fashion. Affected individuals show congenital, bilateral ptosis and restrictive external ophthalmoplegia, with their eyes partially or completely fixed in an infraducted (eownward) and strabismic position. It remains unclear whether this disorder results from a primary myopathic or from a neuropathic process, and wherther these two processes can be pathophysiologically related to one another. We performed the electromyography with quantitative analysis (QEMG) of the extraocular muscles (EOM) in three members of a family affected by CFEOM whose disease gene maps to the locus on chromosome 12 (CFEOM1). QEMG data from the EOM of the affected members provides a furgher demonstration of a neuropathic process for CFEOM1 involving the superior and inferior division of the oculomotor nerve. | |
| Data prodotto definitivo in UGOV: | 12-ott-2005 | |
| Appare nelle tipologie: | 4.01 Contributo in Atti di convegno |
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