Oculopharyngeal muscular dystrophy in Italy.
Neuromuscul Disord
; 7 Suppl 1: S53-6, 1997 Oct.
Article
in En
| MEDLINE
| ID: mdl-9392017
ABSTRACT
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant myopathy particularly frequent in Québec. The few Italian cases thus far described with bilateral ptosis, dysphagia and variable muscle weakness, show non-specific dystrophic findings on muscle biopsies by light microscopy. We describe a 70-year-old Italian woman with an adult-onset ptosis, mild dysphagia and proximal muscle weakness belonging to a family segregating OPMD according to an autosomal dominant mode of inheritance. Clinical features of four of her relatives are reviewed. Muscle biopsy studied by electron microscopy showed the typical 8.5 nm in diameter intranuclear filamentous inclusions (INI). To our knowledge, this is the first Italian report of OPMD with INI. The identification of nuclear inclusions is mandatory in order to confirm the diagnosis prior to linkage analysis.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pharyngeal Muscles
/
Muscular Dystrophies
/
Oculomotor Muscles
Type of study:
Etiology_studies
Limits:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Europa
Language:
En
Journal:
Neuromuscul Disord
Journal subject:
NEUROLOGIA
Year:
1997
Document type:
Article
Affiliation country:
Italy