1/46. Pharyngeal dysphagia caused by isolated myogen dystrophy of musculus cricopharyngeus.Five patients suffering from idiopathic cricopharyngeal dysfunction (without Zenker's diverticulum) were treated surgically. Together with cricopharyngeomyotomy biopsies were taken at the level of the cricopharyngeus. Histological, enzyme hystochemical and electronmicroscopic examinations were performed on all patients. In two cases the histology revealed myogen dystrophy (presence of necrosis, myophagocytosis, abnormal fiber structure, basophilic fibers, fibrosis, mild cellular reaction and predominancy of fiber type I). Since the complete patient evaluation (clinical features, electromyography, serum creatinin phosphokinase level, etc.) could rule out any general, muscle disorders, the cause of the idiopathic pharyngeal dysfunction must have been in these two cases an isolated myogen dystrophy of the cricopharyngeus.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/46. A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia.We describe a new mutation in the tRNA(Ala) gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia, dysphagia and mild proximal myopathy. The mutation is heteroplasmic and disrupts a highly conserved A-U base pair within the anticodon stem of the tRNA(Ala). Cytochrome c oxidase-negative fibers harbor a significantly higher level of mutated mtDNA than cytochrome c oxidase-positive fibers. This is the first mutation in the tRNA(Ala) gene which satisfies accepted criteria for pathogenicity.- - - - - - - - - - ranking = 0.74439017813868keywords = myopathy, ophthalmoplegia (Clic here for more details about this article) |
3/46. Manometric study in kearns-sayre syndrome.Although swallowing difficulties have been described in patients with kearns-sayre syndrome (KSS), the spectrum of manometric characteristics of dysphagia is not yet well known. Moreover, it is conceivable that a combination of various degrees of swallowing difficulties with different patterns in manometric studies exist, each playing a major role in the prognosis, natural history, and quality of life of KSS patients. An 18-year-old girl diagnosed at the age of 5 years with KSS (muscle biopsy) was admitted to our department with an upper respiratory tract infection and dysphagia. Clinical examination revealed growth retardation, external ophthalmoplegia, pigmentary retinopathy, impaired hearing, and ataxia. An electrocardiogram revealed cardiac conduction defects (long Q-T), and brain magnetic resonance imaging showed abnormalities in the cerebellar hemispheres. A manometric and motility study for dysphagia was conducted and the pharynx and upper esophageal sphincter (UES) resting pressures were similar to control group values, but the swallowing peak contraction pressure of the pharynx and the closing pressure of the UES were very low and could not promote effective peristaltic waves. relaxation and coordination of the UES were not affected although pharyngeal and upper esophagus peristaltic waves proved to be very low and, consequently, were practically ineffective. The patient was started on treatment comprising a diet rich in potassium, magnesium, and calcium, and oral administration of vitamin d and co-enzyme Q10 100 mg daily; she was discharged 6 days later with apparent clinical improvement.- - - - - - - - - - ranking = 0.11510706517687keywords = ophthalmoplegia (Clic here for more details about this article) |
4/46. dementia with oropharyngeal dysphagia and myopathy.A 72-year-old man was referred for geriatric evaluation with a view toward placement in institutional care. He presented originally to an internal medicine team with a six-month history of weight loss, constipation, generalized weakness, and apathy; investigations to rule out an underlying neoplasm were negative. Interdisciplinary assessment revealed coexisting dementia, myopathy, and oropharyngeal dysphagia. These findings prompted further diagnostic evaluation and a diagnosis of inflammatory myopathy with associated oropharyngeal dysphagia and dementia was made. The dementia, myopathy, and oropharyngeal dysphagia responded to steroids and rehabilitation and the patient regained his independence.- - - - - - - - - - ranking = 1.1819839657803keywords = myopathy (Clic here for more details about this article) |
5/46. Cricopharyngeal muscle hypertrophy associated with florid myositis.hypertrophy of the cricopharyngeal muscle is a serious clinical condition that can cause severe dysphagic symptoms, including prolonged deglutition and postdeglutitive aspiration. Although the therapeutical concepts are well established, the pathogenic mechanism of cricopharyngeal hypertrophy remains unclear. We present a patient with a ten-year history of progressive dysphagia. The neurological and MRI findings were normal. However, videocineradiography showed severe hypertrophy of the cricopharyngeal muscle. This condition was first treated by injections of botulinum toxin, which did not alleviate the symptoms. Next, myotomy and muscle biopsy were performed. Histological evaluation disclosed lymphoplasmacellular florid myositis, single-fiber atrophy, and muscle fiber necrosis with phagocytosis. There were no signs of inclusion body myositis or oculopharyngeal muscular dystrophy. Our finding of severe cricopharyngeal muscle hypertrophy associated with myositis has been published previously (n = 34). The study presented here shows cricopharyngeal dysphagia associated with various systemic diseases, including motor neuron disease, general granulomatous disease, dermatomyositis, or inclusion body myositis. Isolated changes of the cricopharyngeal muscle were described in 65% of the cases.- - - - - - - - - - ranking = 3.1884369135232keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
6/46. Cricopharyngeal myotomy for dysphagia in oculopharyngeal muscular dystrophy. Report of a case.A case of dysphagia secondary to oculopharyngeal muscular dystrophy is described. On the basis of the patient's clinical condition, radiographic and manometric findings, a cricopharyngeal myotomy was performed, resulting in relief from dysphagia.- - - - - - - - - - ranking = 15.942184567616keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
7/46. Management of dysphagia in inclusion body myositis.Inclusion body myositis is an inflammatory myopathy in which dysphagia has been considered a rare finding. However, recent literature finds dysphagia an increasingly common symptom as more cases of inclusion body myositis are identified. Unlike some inflammatory myopathic disorders, inclusion body myositis is resistant to treatment with corticosteroids, and therefore, the otolaryngologist may be consulted regarding surgical options for relief of dysphagia. A patient is described in whom severe progressive dysphagia associated with inclusion body myositis developed. Impaired pharyngeal wall motion and cricopharyngeal achalasia were demonstrated by videofluoroscopic evaluation, and the patient was successfully treated by cricopharyngeal myotomy. The pathophysiologic nature of inclusion body myositis and the mechanisms of cervical dysphagia in the inflammatory myopathies are reviewed.- - - - - - - - - - ranking = 0.16885485225433keywords = myopathy (Clic here for more details about this article) |
8/46. Oculopharyngeal muscular dystrophy: a case report and a review of literature.Most muscular dystrophies manifest as peripheral muscular weakness commencing at various age, however, oculopharyngeal muscular dystrophy (OPMD) is a rare hereditary disorder presenting in middle age with progressive dysphagia and bilateral blepharoptosis rather than peripheral muscular weakness. In the medical literature, OPMD has been well described in Canadians of French descent. So far, there is no publication of OPMD in the malaysia-singapore medical literature. This article documents this condition in a Chinese patient. A review of the literature is presented and the management of OPMD is discussed.- - - - - - - - - - ranking = 15.942184567616keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
9/46. Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.We report on a girl with a dicentric chromosome 14 [45,XX,inv(9)(p11q13),dic(14;14)(p11.1;p11.1)] with paternal uniparental disomy (UPD) for chromosome 14. Clinical findings include severe hypotonia, thoracic dystrophy, diastasis recti, swallowing difficulties with aspiration, developmental delay, and multiple minor anomalies. UPD for chromosome 14 has been documented with paternal UPD much less commonly than with maternal UPD. There have been ten cases of paternal UPD for chromosome 14 and one case of segmental paternal isodisomy of chromosome 14. Many of the findings are nonspecific, but the radiographic rib findings (referred to as the "coat-hanger" sign) are characteristic for this condition. UPD 14 studies should be performed in children thought to have Jeune asphyxiating thoracic dystrophy or other related osteochondrodysplasias when the diagnosis is in question. Our patient and the previously reported cases support a discrete recognizable phenotype for paternal UPD for chromosome 14.- - - - - - - - - - ranking = 0.33333333333333keywords = dystrophy (Clic here for more details about this article) |
10/46. Dysphagia as a manifestation of thyrotoxicosis: report of three cases and literature review.Myopathy is frequently associated with thyrotoxicosis. Skeletal muscles are predominantly involved in thyrotoxic myopathy, but dysphagia is extremely rare. We report three cases of thyrotoxicosis with dysphagia and review of the literature of the past 30 years. Most of these patients had antecedent muscle weakness before the onset of dysphagia although some suffered from a sudden onset of bulbar palsy. Either a myopathic or neuropathic pattern was found on electromyography. The incidence of oropharyngeal dysphagia was higher than that of esophageal motility dysfunction. Aspiration pneumonia occurred more accompanied by oropharyngeal dysphagia. The swallowing disorder could be resolved completely within 3 weeks after treatment for thyrotoxicosis. In light of these clinical experiences, early intensive treatment that includes antithyroid agent, beta-blocker, and Lugol solution may be necessary.- - - - - - - - - - ranking = 0.16885485225433keywords = myopathy (Clic here for more details about this article) |
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