Ophthalmoplegia as the presenting muscle-related manifestation of myotonic dystrophy.
Rev Neurol (Paris)
; 166(5): 538-41, 2010 May.
Article
em En
| MEDLINE
| ID: mdl-20092863
ABSTRACT
INTRODUCTION:
Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by expanded CTG repeats within the 3' untranslated region of the dystrophia myotonia protein kinase (DMPK) gene on chromosome 19. Diplopia is rare in this disease and has only been reported in patients with diffuse neuromuscular disorders. OBSERVATION We report here on the case of a 58-year-old woman in whom ophthalmoplegia was the first neuromuscular manifestation of DM1 and led to the diagnosis. Among the multisystem abnormalities associated with DM1, muscle-related symptoms are prominent, and usually involve the facial and neck muscles early on in the disease. This case provides additional evidence of oculomotor muscle involvement in DM1.CONCLUSION:
DM1 should, therefore, be considered during the diagnostic workup of any unexplained ophthalmoplegia of muscle origin, especially if there has been a previous history of cataract, even in the absence of typical muscle-related features.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Oftalmoplegia
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Músculo Esquelético
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Distrofia Miotônica
Tipo de estudo:
Etiology_studies
Limite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Rev Neurol (Paris)
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
França