We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities.
- Authors
Pratt, Michael F.; Meyers, Peter K.; Pratt, M F; Meyers, P K
- Abstract
Oculopharyngeal muscular dystrophy is a rare, autosomal dominant disorder which has been traced through 11 generations of a French Canadian family. The classic presenting complaints are palpebral ptosis and oropharyngeal dysphagia. The dysphagia is usually progressive and leads to repetitive regurgitation, increased alimentation time, and weight loss. Immunologic studies generally reveal elevated levels of IgA and IgG, while manometry demonstrates poor pharyngeal contraction. The dysphagia is frequently relieved by cricopharyngeal myotomy. We present two case reports and also a new ultrastructural finding of abnormal metallic mitochondrial inclusions. This finding has not been previously described in this disorder.
- Subjects
MUSCULAR dystrophy; BLEPHAROPTOSIS; PHARYNGEAL muscles; MUSCLES; DEGLUTITION disorders; MITOCHONDRIA; CELLS; GENETIC techniques; GENEALOGY
- Publication
Laryngoscope, 1986, Vol 96, Issue 4, p368
- ISSN
0023-852X
- Publication type
journal article
- DOI
10.1288/00005537-198604000-00006