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Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. Tracheostomy and gastrostomy were required. Creatine kinase and repetitive facial nerve stimulation were normal. Edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
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PMID:Childhood onset oculopharyngeal muscular dystrophy. 176 43

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.
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PMID:[Oculopharyngeal muscular dystrophy]. 238 59

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.
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PMID:Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. 300

Oculopharyngeal muscular dystrophy is an autosomal dominant myopathy that exhibits the symptoms of progressive dysphagia, with ptosis usually occurring after the age of 40. Literature review of this rare disease reveals a high incidence in the French-Canadian population, as well as in five other ethnic groups. Our article details the clinical history and genealogy of the disease through four generations in a family of English descent. Radiographic studies show a cricopharyngeal bar and aspiration. Results of electron microscopic examination of muscle biopsy specimens from the vastus lateralis and cricopharyngeus muscles confirm a chronic, active, severe, myopathic process that is more pronounced in the cricopharyngeus muscle. The recommended treatment for blepharoptosis and the cricopharyngeus muscle pathosis is discussed.
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PMID:Oculopharyngeal muscular dystrophy: clinical and histopathologic correlations. 310 51

Oculopharyngeal muscular dystrophy (OPMD) is a rare progressive disease characterized by bilateral ptosis and dysphagia. A case report of a patient of French-Canadian descent is presented. The importance of OPMD is emphasized, not only in its differential of ptosis, but also because of the possible sequella from the dysphagia of weight loss, pulmonary infection, choking and tracheal aspiration.
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PMID:Oculopharyngeal muscular dystrophy. 358 10

Oculopharyngeal muscular dystrophy is a localized or restricted variety of muscular dystrophy, characterized by bilateral ptosis, myopathic facies, external ophthalmoplegia and dysphagia. A patient with this unusual myopathy is described and detailed esophageal motility studies are presented that provide conclusive evidence of both striated and smooth muscle involvement.Because these unusual localized forms of muscular dystrophy exist and may be of late onset, previous rigid concepts concerning the dystrophies should be discarded.
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PMID:Late-onset muscle dystrophy: oculopharyngoesophageal variety. 594 Mar 25

Oculopharyngeal muscular dystrophy (OPMD), a late onset autosomal dominant myopathy, is common among the French-Canadians and the Jews from Bukhara (Uzbekistan); most clinical histologic and genetic data published until now, as well as the recently suggested diagnostic criteria, are based on studies among the former. We studied 79 patients with OPMD belonging to the newly described Jewish-Bukhara cluster. The disease began between the ages of 21 and 78 yr (median 53 yr). In 11 patients (15%) it began before the age of 40. Ptosis was the first symptom in 59 patients and dysphagia in the remaining 20. Eight patients (10%) were monosymptomatic (ptosis) after more than 7 yr from the start of the disease; however, other family members had additional signs/symptoms. The patients belong to 29 families; in 26 age-dependent autosomal dominant inheritance could be documented. Among them there is certain evidence for genetic anticipation. This clinical study is the largest published concerning patients other than French-Canadians.
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PMID:Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews. 818 15

Oculopharyngeal muscular dystrophy is a progressive, hereditary myopathy in which the levator palpebrae and the pharyngeal muscles are selectively involved. Progressive, usually symmetric blepharoptosis with or without dysphagia appears in the fifth decade. The high prevalence of this myopathy in Quebec stems from the immigration of a single couple from France in 1634, whose numerous descendants manifest its autosomal dominant heredity. We review our experience in 91 cases over 20 years. The ptosis was moderate in 83% of the cases at the time of surgery, and the average age was 65 years. Beard's surgical guidelines for correction of ptosis based on the degree of ptosis and residual levator function were applied directly in cases of primary intervention, with consistently satisfactory results. This is in contrast to other types of hereditary myopathic ptosis, in which the guidelines must be modified. The rate of recurrence of ptosis among patients followed for at least 9 years was 13%.
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PMID:Correction of blepharoptosis in oculopharyngeal muscular dystrophy: review of 91 cases. 843 57

Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness. Linkage of oculopharyngeal muscular dystrophy to 14q11.2-q13 has been reported in a series of French Canadian families. Haplotype analysis in these data shows a single segregating disease chromosome, suggesting a founder effect in this population. We ascertained and sampled for linkage studies 5 multigenerational American families with oculopharyngeal muscular dystrophy. Four of the 5 families have known French Canadian ancestry while the fifth is of English/Scottish origin. A peak multipoint lod score of 6.30 was obtained for the marker MYH7.1 in the families, confirming linkage to 14q11.2-q13. The English/Scottish family exhibited a different chromosomal haplotype for the oculopharyngeal muscular dystrophy alleles than did the families of French Canadian origin. These data suggest that this family may represent a second, possibly independent mutation in this disorder.
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PMID:Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. 895 24

Oculopharyngeal muscular dystrophy (OPMD) was described by Taylor in 1915. This autosomal dominant inheritance affection begins at the age of 40-50 years associating bilateral ptosis and dysphagia. In 1980, Tome and Fardeau described rimmed vacuoles and typical intranuclear tubulo-filamentous inclusions in the muscle biopsy. We report two cases (brother and sister) of clinical and histological OPMD with mitochondrial abnormalities (Ragged red fibers) associated with classical OPMD lesions. Those observation remind the question already vised since a long time by some authors, of the signification of mitochondrial abnormalities in OPMD.
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PMID:[Mitochondrial anomalies in oculopharyngeal muscular dystrophy]. 929 68


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