[Oculopharyngeal muscular dystrophy].
A rare case of progressive bilateral ptosis with dysphagia in a 70-year-old man is presented. There were similar symptoms in other members of the family. The patient was diagnosed as having oculopharyngeal muscular dystrophy, a rare autosomal dominant disorder involving progressive muscular dystrophy, one of the chronic external ophthalmoplegic syndromes. There had been slowly progressive bilateral ptosis and there was almost no levator palpebra muscular activity left, resulting in extreme head tilt. A sling suspension operation for the ptotic lids, using autogenous fascia lata, was successful. Oculopharyngeal muscular dystrophy is essentially a myogenic disorder. Affected muscles are usually those of the pharynx, causing dysphagia, and the levator palpebra muscles. Rarely are other skeletal muscles involved. The sling operation gives direct support to the dystrophic malfunctioning levator muscles by using the frontalis muscles to raise the ptotic lids, thus improving visual ability.
Tamir
G
G
Dept. of Plastic Surgery, Beilinson Medical Center, Petah Tikva.
Hauben
D
D
D000368:Aged; D001763:Blepharoptosis / Q000209:etiology* / Q000601:surgery; D003680:Deglutition Disorders / Q000209:etiology*; D006801:Humans; D008297:Male; D009132:Muscles; D009136:Muscular Dystrophies / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009801:Oculomotor Muscles; D010609:Pharyngeal Muscles