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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

One case of oculopharyngeal muscular dystrophy is reported, in a 75 year old white male with manifest family history of palpebral ptosis. He displayed bilateral ptosis and dysphagia. Diagnosis was carried out after clinical, electrical and bioptic procedures. Data obtained have been discussed with previous reports in the literature. It was necessary to perform a cricopharyngeal myotomy to overcome the malnutrition secondary to his swallowing problem.
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PMID:[Clinicopathological study of a case of oculopharyngeal muscular dystrophy]. 180 38

We report a case of a woman of Mexican origin with oculopharyngeal muscular dystrophy (OMD). This is the first OMD reported in Mexico. She was healthy until the age of 30, when she noticed slowly progressive ptosis and dysphagia. She developed dermatitis and polyneuritis which we attribute to a deficiency of nutrients due to her dysphagia. In contrast to most previous reported cases this patient had also a distal myopathy. It is recommended in this type of patients a strict dietary control in order to avoid complications. It is also recommended to perform biopsies of several muscles to complete the diagnosis and prognosis.
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PMID:[Oculopharyngeal muscular dystrophy: 1st report in Mexico]. 223 75

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

Victor and his associates coined the term oculopharyngeal muscular dystrophy to describe a clinical syndrome characterised by dysphagia and ptosis. Subsequent authors have traced a large series in French Canadians to a single Quebec isolate and have emphasized that the condition is usually inherited as a dominant trait. In 1974 Fried reported two isolated cases in an Ashkenazi Jewish family of Hungarian extract in whom the condition was recessively inherited. In this paper we report an Irish family from North Cork with typical features of oculopharyngeal muscular dystrophy in whom the inheritance pattern is dominant with incomplete expression. In reporting such cases the ethnic and genetic heterogeneity of oculopharyngeal muscular dystrophy is highlighted. Case Report 1. A 68 year old farmer was admitted for investigation of recurrent chest infections. He complained of a 20 year history of progressive difficulty swallowing, productive cough and impaired vision. On examination he had a gaunt expressionless appearance with bilateral ptosis to mid pupillary level. Both right and left gag reflexes were noted to be reduced and sluggish, and on swallowing fluids were noted to regurgitate through his nostrils. Chest examination revealed the presence of bibasal coarse crepitations suggestive of aspiration. No further physical abnormalities were noted. On investigation, full blood count, urea, and electrolytes, liver function tests, sedimentation rate, thyroid function tests, muscle enzymes (PK, LDH) and electrocardiogram were normal. Chest radiograph confirmed aspiration. Tensilon test was negative. Oesophagoscopy outruled organic obstruction, and confirmed sluggish pharyngeal muscular activity. A clinical diagnosis of oculopharyngeal dystrophy was made on the basis of associated ptosis and dysphagia occurring in the presence of a supportive family history.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Oculopharyngeal muscular dystrophy in an Irish family. 275 12

A case of oculopharyngeal muscular dystrophy in an elderly woman of French-Canadian background presenting with dysphagia is discussed. Typical features of the clinical presentation include bilateral ptosis and dysphagia with significant potential for morbid outcomes of aspiration pneumonia and malnutrition. Although relatively uncommon, this diagnosis should be considered in an elderly person with dysphagia, a history of ptosis, and the proper family background. Surgical treatment appears to improve the signs and symptoms of this disease.
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PMID:Oculopharyngeal muscular dystrophy as a cause of dysphagia in the elderly. 394 5

An Italian male aged 50 years with oculopharyngeal muscular dystrophy is reported. Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking. The distribution of muscle weakness in the propositus and in one of his sisters was proximal in the upper, but distal in the lower limbs, confirming the existence of a relationship between oculopharyngeal dystrophy and distal myopathy. The first muscle biopsy appeared normal except for some round-cell collections, whereas the second one, 5 years later, showed marked dystrophic changes. Some patients with oculopharyngeal dystrophy may apparently pass through a secondary muscular inflammatory stage.
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PMID:Familial oculopharyngeal muscular dystrophy with distal spread. 619 73

Oculopharyngodistal myopathy is characterized by the adult onset of ptosis, external ophthalmoplegia, dysphagia, and distal weakness. Although dysphagia is common, other gastrointestinal involvement has not been described. We report a case with childhood onset who developed chronic intestinal pseudo-obstruction. Other myopathies associated with ophthalmoplegia and intestinal pseudo-obstruction such as mitochondrial cytopathies were excluded. Whether oculopharyngodistal myopathy is a variant of oculopharyngeal muscular dystrophy or a distinct neuromuscular disorder is unknown and requires further study.
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PMID:Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. 763 Mar 44

An 82-year-old Jewish woman from Tashkent, Uzbekistan was hospitalized because of dysphagia and weight loss. Physical examination revealed bilateral ptosis. The diagnosis of the rare inherited disease oculopharyngeal muscular dystrophy was confirmed by electron microscopy of biopsied muscle. It has recently been found that the prevalence of the disease among Jews from Uzbekistan is very high. It should therefore be considered when such patients present with dysphagia, so invasive imaging procedures can be avoided.
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PMID:[Oculopharyngeal muscular dystrophy with dysphagia in a Jewess from Uzbekistan]. 774 30

We investigated a Japanese pedigree with oculopharyngeal muscular dystrophy (OPMD) which included the probands of two sisters and a brother. Case 1 (Fig. 1): A woman born in 1940 at Fuji City, Shizuoka prefecture (Pacific coast side, which located about 80 miles west from Tokyo) was insidiously suffering from dysphagia and eye lid ptosis since her age of 40. She was admitted to Shizuoka Red Cross Hospital when 48 years old, because of difficulty of going upstairs. Neurological examination revealed severe eye lid ptosis without eye movement disorders, dysphagia, and moderate weakness on neck and proximal muscles of extremities without definite atrophy and fasciculation. In the laboratory data, serum creatine kinase level was slightly elevated to 215 U/l. Electromyographic findings showed myogenic pattern on the extremities but no evidence of the existence of myasthenia gravis and neurogenic involvement. Intranuclear tubular filaments were found in 3% of muscle fibers from her left biceps muscle. Case 2: The elder sister of the case 1 was suffering from eye lid ptosis without eye movement disorder and severe dysphagia since the age of 44. Case 3: The younger brother of the case 1 was suffering from dysphagia and proximal muscle weakness since the age of 40. We found eye lid ptosis, dysphagia and/or proximal muscle weakness in 24 cases (men: 12 cases, women: 12 cases) out of 50 examined members of this pedigree after their ages of 40 (Fig.3; family tree). It was concluded that this pedigree had cases of oculopharyngeal muscular dystrophy with autosomal dominant inheritance which was quite rare in Japanese.
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PMID:[A Japanese pedigree with oculopharyngeal muscular dystrophy]. 792 58


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