Oculopharyngeal Muscular Dystrophy: A Case Report From Puerto Rico.
Cureus
; 16(7): e65766, 2024 Jul.
Article
em En
| MEDLINE
| ID: mdl-39082045
ABSTRACT
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited skeletal myopathy. The diagnosis is based on a clinical presentation of blepharoptosis, dysphagia, and a positive family history of the disease in patients past 40 years of age. A 57-year-old male patient presented with ptosis without lid crease, adult-onset dysphagia, and bilateral pseudophakia. The patient underwent ptosis repair of upper eyelids via frontalis slings with silicone rods. His mother was subsequently found to have ptosis, dry eyes, and anorexia due to dysphagia, thus suggesting a probable family history. Based on the comprehensive ophthalmic evaluation, and based on his ptosis, dysphagia, and family history, the patient was diagnosed with OPMD.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
País/Região como assunto:
Puerto rico
Idioma:
En
Revista:
Cureus
Ano de publicação:
2024
Tipo de documento:
Article
País de publicação:
Estados Unidos