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Query: UMLS:C0033377 (prolapse)
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The occurrence of oculopharyngeal muscular dystrophy (OPMD) in Orientals is uncertain. We identified two unrelated Japanese families, including 30 affected individuals (14 men, 16 women, mean age 58 years) of OPMD through four generations, with complete penetrance. Their major clinical manifestations were late-onset bilateral ptosis and dysphagia. Histologic studies of slightly affected muscles reveal mild myogenic changes, occasional rimmed vacuoles, and small angulated fibers. By contrast, the severely involved cricopharyngeal muscle showed marked loss of fibers and massive proliferation of connective tissue. Ultrastructural studies of four different biopsied muscles disclosed subsarcolemmal intranuclear tubulofilamentous inclusions, identical to those of non-Japanese OPMD patients.
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PMID:Oculopharyngeal muscular dystrophy in two unrelated Japanese families. 861 81

This report describes a 56-yr-old man with a dominantly inherited disorder affecting four generations and characterized by bilateral ptosis and dysphagia. Muscle biopsy showed only minor light microscopic abnormalities but electron microscopy revealed fibres containing paracrystalline mitochondrial inclusions. Southern analysis of mitochondrial DNA obtained from muscle did not reveal mitochondrial gene deletions. An extensive search eventually identified the characteristic intranuclear filaments of oculopharyngeal muscular dystrophy (OPMD). Abnormal mitochondria are non-specific epiphenomena in OPMD but a potential source of confusion with a late-onset mitochondrial cytopathy. This case further emphasizes the necessity for a diligent search for the diagnostic intranuclear filaments when oculopharyngeal muscular dystrophy is suspected clinically.
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PMID:Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. 878 3

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

Since 3 years, a 74 year-old man suffered of swallowing impairment, weight loss, bilateral ptosis and proximal muscular weakness. Electron microscopy disclosed intranuclear tubular filaments and confirmed the diagnosis of oculopharyngeal muscular dystrophy. Upper oesophageal sphincter myotomy was performed with complete improvement. Four months after surgery, swallowing disorders were not recurrent and weight gain was substantial.
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PMID:[Oculopharyngeal myopathies: value of myotomy of the superior sphincter of the esophagus. Apropos of a case]. 900 49

This study describes five patients with slowly developing dysphagia secondary to oculopharyngeal muscular dystrophy (OPMD), a progressive neurological disorder characterized by gradual onset of dysphagia, ptosis, and facial and trunk limb weakness. OPMD is a genetic disorder that affects formerly healthy adults who typically begin to experience symptoms in the fourth or fifth decade of life. Despite the debilitating nature of the disease, it is common for affected individuals to live to old age. Because of the gradual progression of dysphagia, as well as the deterioration of articulation, resonance, and breath support, patients with OPMD may come to the attention of physicians, nurses, and speech pathologists before a diagnosis is made. We hope to heighten awareness of how these subjects developed strategies to cope with their swallowing problems without medical intervention until the disease was producing marked symptoms. Patients with suspected dysphagia should be questioned about overt problems with eating and swallowing, but also about their adaptations and compensatory strategies. A Clinical Interview Questionnaire is included that may yield additional information about hidden dysphagia.
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PMID:Gradual onset of dysphagia: a study of patients with oculopharyngeal muscular dystrophy. 929 39

In 1948, Roma Amyot, a well-known French-Canadian neurologist, observed in ten families a late onset syndrome consisting of hereditary ptosis which was sometimes associated with dysphagia but rarely with limb weakness. At that time, Taylor's original work dating back to 1915 was still unknown to him. Nonetheless, these reports constitute the two earliest publications about this syndrome prevalent in the French-Canadian population. Amyot recognized the myopathic nature of this disease which was later called oculopharyngeal muscular dystrophy (OPMD) by Victor et al.
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PMID:Hereditary ptosis of late onset: early observations on oculopharyngeal muscular dystrophy in Quebec by Roma Amyot. 939 9

The clinical, histopathological, ultrastructural and geographical data on 29 cases of oculopharyngeal muscular dystrophy (OPMD) identified by the authors in France is briefly presented. The mean age of the patients was 53.8 +/- 8.1 years. Onset symptoms were ptosis (14/29), dysphagia (12/29) and limb girdle weakness (3/29). The evolution of the disease was always progressive and followed different clinical patterns. The main histological changes in muscle biopsies were atrophic angulated fibers (29/29) and rimmed vacuoles (25/29); muscle fiber necrosis was very rare (1/29). The characteristic nuclear inclusions made of 8.5-nm filaments were observed in all cases, and found in 2-5% of the nuclei in a given ultrathin section. They are the morphological marker of the disease.
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PMID:Oculopharyngeal muscular dystrophy in France. 939 12

Within the last 30 years, sixty-five patients exhibiting the clinical symptoms of oculopharyngeal muscular dystrophy (OPMD) were studied at the Neuromuscular Diseases Unit of the Neurological Institute of Montevideo. They are members of five unrelated families which came from the Canary Islands to Uruguay between 1850 and 1900. In the three families examined, the typical inclusions characteristic of OPMD were found in the nuclei of muscle fibers. Treatment for ptosis and dysphagia was discussed. The particular migratory pattern of this group of patients could be of considerable interest in the study of molecular genetics.
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PMID:Oculopharyngeal muscular dystrophy in Uruguay. 939 16

We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle biopsies showed the pathognomonic ultrastructural finding of characteristic intranuclear filaments. Linkage analysis confirmed that this family is also linked to chromosome 14q markers. Haplotype analysis revealed that a unique haplotype segregates with the disease which is different from the one found in French-Canadian OPMD. Although approximately half of the probands with OPMD showed mild clinical and neurophysiological signs of a distal symmetrical neuropathy, the association between the neurogenic lesions and OPMD is still unclear. Some family members with or without OPMD complained of exercise related muscle pain, and a lipid storage myopathy with low muscular carnitine concentrations was found, while the carnitine contents in blood and urine samples as well as the activity of the carnitine-palmitoyl-transferase were normal, fitting the pattern of a primary muscular carnitine deficiency, independent of OPMD.
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PMID:Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency. 939 18

Progressive, usually symmetric blepharoptosis with or without dysphagia appears in most instances in the fifth decade in oculopharyngeal muscular dystrophy (OPMD). We review our experience over 20 years of applying Beard's surgical guidelines for correction of ptosis to OPMD patients with satisfactory results. As the disease continues to progress, the rate of recurrence of ptosis among follow-up patients of a 9-year minimum period was 13%.
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PMID:Surgical correction of blepharoptosis in oculopharyngeal muscular dystrophy. 939 22


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