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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Oropharyngeal dysphagia is not a single disease but a symptom complex that is recognized by difficulty in transfer of a food bolus from mouth to esophagus or by signs and symptoms of aspiration pneumonia or nasal regurgitation. Its etiologies are legion, with the most common result of underlying neuromuscular disease, including cerebrovascular accidents, Parkinson's disease, multiple sclerosis, and muscular dystrophy. There are two methods of treatment for oropharyngeal dysphagia; one is specific and directed at the underlying disease and the other is general (supportive) and designed to preserve oral intake for nutrition while preventing aspiration pneumonia. Following a general discussion of the etiology and clinical presentation of orophyarngeal dysphagia, a description of the methods for supportive care is presented as well as the approach to the treatment of cricopharyngeal dysfunction and Zenker's diverticulum.
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PMID:Oropharyngeal dysphagia. 1600 27

Individuals with Duchenne muscular dystrophy may benefit from gastrostomy tube feeding due to progressive dysphagia and malnutrition. However, due to their severely impaired pulmonary function, these individuals are at risk of severe complications when they are sedated or undergo anesthesia for the procedure. We previously described a technique of noninvasive positive pressure ventilation to provide respiratory support during gastrostomy tube placement in such patients, but this technique had risks and limitations. In this case report, we examine two alternative techniques we used to provide respiratory support successfully to patients with severe muscular dystrophy and malnutrition who underwent percutaneous endoscopic gastrostomy tube placement. We then review the literature and discuss the potential benefits, risks, and limitations of the above techniques and of other options for gastrostomy placement in people with severe muscular dystrophy.
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PMID:Noninvasive ventilation during gastrostomy tube placement in patients with severe duchenne muscular dystrophy: case reports and review of the literature. 1636 75

The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early contractures in elbows and ankles, with familiar history compatible with X-linked inheritance form. The investigation showed increased serum creatinekinase levels electrocardiogram had a first degree atrioventricular block and right bundle branch block normal electromyography and nerve conduction study muscle biopsy disclosed myopathic characteristics and nuclear protein immunohystochemical analysis showed deficiency of emerin. The clinical and genetics manifestations, laboratorial and electromyography changes, as well as, the study of the pattern of inheritance for genetic counseling are discussed.
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PMID:[Emery-Dreifuss muscular dystrophy: case report]. 1679 77

A 2-year-old, male Weimaraner with muscular dystrophy was presented with generalized muscle atrophy of the limbs; hypertrophy of the neck, infraspinatus, and lingual muscles; dysphagia; and regurgitation. Unilateral cryptorchidism, unilateral renal agenesis, and hiatal hernia were also detected. Spontaneous muscle activity was identified on myography. Serum creatine kinase was markedly elevated. Immunohistochemical staining for dystrophin was restricted to suspected revertant (characteristics of immaturity) fibers. Histologically, skeletal myofiber degeneration, endomysial fibrosis, and mineralization were present. Following euthanasia, necropsy revealed hypertrophy of the diaphragm and cardiac muscle fibrosis. This case of muscular dystrophy represents a slowly progressive form with organ agenesis.
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PMID:Dystrophin-deficient muscular dystrophy in a Weimaraner. 1761 4

Facioscapulohumeral muscular dystrophy (FSHD) is not a recognized neuromuscular cause of dysphagia. However, a study of pharyngoesophageal function in FSHD has not been performed or reported. The aim of this study was to ascertain by relatively noninvasive techniques whether the dystrophic muscle disease that underlies FSHD involves the pharyngeal and/or the esophageal striated and smooth muscles. We used conventional cineradiography and intraluminal esophageal manometry on separate occasions to study pharyngeal and esophageal function in 20 patients with FSHD at various stages of disease, with or without complaints of deglutition. Age- and sex-matched control data were used for comparison of the manometric component of the study. Twelve men and eight women with FSHD were studied. The mean patient age was 38.1 years (41.9 years for controls), and the age range was 19-61 years (22-55 years for controls). The mean disease duration was 16.7 years (range = 4-39 years).Five patients admitted to having intermittent oropharyngeal dysphagia (difficulty to initiate swallowing, cough after swallowing, sensation of food stuck in throat, or nasal regurgitation), and three patients admitted to intermittent esophageal dysphagia (difficulty swallowing both liquids and solids). Chest roentgengrams showed a hiatal hernia in four patients, but no active cardiopulmonary disease. Abnormal instrumental results were documented in eight patients: Cineradiography detected ineffectual pharyngeal contractions (2 patients), pharyngeal diverticula but normal pharyngeal motility (2 patients), and decreased cricopharyngeal and upper esophageal relaxation (2 patients). The mean manometric pressure of the patient group was not significantly different from the control data. However, manometry detected motility abnormalities that were not reflected in the mean data and included increased lower esophageal sphincter resting pressure with normal or abnormal relaxation (2 patients) and inconsistent, high-amplitude, long-duration, primary peristaltic contractions (1 patient). Patients with FSHD did not spontaneously volunteer intermittent complaints of deglutition. This study did not definitely establish that the cause of abnormal pharyngeal and cervical esophageal function was related to the dystrophic process that underlies FSHD. Any esophageal dysmotility was nonspecific and insignificant and was caused by an undetermined, probably neuropathic, process unrelated to the muscular dystrophy.
Dysphagia 2008 Dec
PMID:Facioscapulohumeral muscular dystrophy: a radiologic and manometric study of the pharynx and esophagus. 1825 5

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant form of late-onset muscular dystrophy. Ptosis (droopy eyelids) and dysphagia (difficulty swallowing) are the most common presenting symptoms. The purpose of this phenomenological study was to describe the experience of living with OPMD. Purposeful sampling was used to recruit individuals with genetically confirmed OPMD who displayed ptosis and dysphagia, were 40 years or older, English speaking, and were willing to consent to the tape-recording of the interviews. An unstructured interview format was used to solicit the participants' perspectives of living with droopy eyelids, difficulty swallowing, and a genetic disorder. The interviews were audiotaped and transcribed verbatim. Colaizzi's Method was used to analyze the data, which identified five comprehensive themes. The themes that emerged describing the experience of living with OPMD were "Adjusting to Change", "Managing Misconceptions", "Seeking Normality", "Facing the Future", and "Informing Children". The information derived from this study will assist nurses to identify the burdens of living with OPMD and to intervene appropriately early in the course of the disease.
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PMID:Living with oculopharyngeal muscular dystrophy: a phenomenological study. 1843 80

Oculopharyngodistal myopathy is a rare type of hereditary myopathy characterised pathologically by the changes of muscular dystrophy with rimmed vacuoles and intra-muscular tubulofilamentous inclusions. Here we report the clinical and myopathological changes in a Chinese family with oculopharyngodistal myopathy. The proband showed external ophthalmoplegia, dysphagia, distal weakness and atrophy in all extremities. Serum creatine kinase level was mildly elevated and a myopathic pattern with myotonic discharge was demonstrated by electromyography (EMG). Molecular genetic analysis showed that the number of trinucleotide repeat expansions in the polyadenylate-binding protein nuclear 1 gene was within the normal limit. No mutations were indentified in the GNE gene. Five other persons with similar symptoms were found in the same generation. Muscle biopsy was performed on the tibialis anterior muscle in the proband. Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes. Ultrastructural examination revealed numerous tubulofilamentous inclusions in both sarcoplasm and nucleus. EMG showed myotonic discharges in oculopharyngodistal myopathy. In addition to the sarcoplasm inclusions, we confirmed that tubulofilamentous inclusions appeared also in the nucleus.
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PMID:The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. 1850 9

Oculo-pharyngeal muscular dystrophy (OPMD) is characterised by progressive eyelid drooping (ptosis) and difficulties with swallowing (dysphagia). In order to determine the role of growth factors, cytokines and chemokines in the physiopathology of muscle disease we have compared the level of expression of 174 factors in both the affected (cricopharyngeal) and non-affected (sternocleidomastoid) muscles of 8 OPMD patients by means of antibody arrays. Despite an important inter-individual variability the expression of sixty factors was found to be persistently different between affected and non-affected muscles. Many of the differentially expressed factors in our study are known to be involved in the formation of fibrosis in both the liver and the lung, indicating the possibility that treatments such as those used in hepatic fibrosis may have a beneficial effect in OPMD patients.
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PMID:Analysis of growth factor expression in affected and unaffected muscles of oculo-pharyngeal muscular dystrophy (OPMD) patients: a pilot study. 1918 91

Vocal tremor is characterized by involuntary rhythmic modulations of pitch and loudness and is best perceived during sustained phonation of vowels. It is most often present in individuals affected by neurogenic disorders such as Parkinson's disease, amyotrophic lateral sclerosis, spinal muscular dystrophy, spasmodic dysphonia, and essential tremor. Vocal tremor does not appear to be responsive to systemic pharmaceutical management but may benefit from injection of botulinum toxin (i.e., Botox) into affected musculature. However, many individuals do not tolerate the potential side effects of severe breathiness and difficulty swallowing associated with Botox injections. In this article, we summarize the speech evaluation and treatment methods successfully used with an individual with essential vocal tremor. Methods used for characterizing the individual's vocal tremor patterns and the ensuing rationale for behavioral intervention is provided. The outcomes of this case example motivated consideration of speech treatment as a beneficial strategy for some individuals with vocal tremor.
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PMID:Development of a speech treatment program for a client with essential vocal tremor. 2149 58

Myotonic dystrophy (DM1) is the most prevalent muscular dystrophy occurring in adulthood. DM1 is a multi-systemic disorder resulting in early-onset cataracts, cardiac rhythm problems, muscle weakness, ptosis, and cognitive and psychiatric manifestations. Dysphagia is one of the most problematic symptoms of DM1 because it may cause weight loss, aspiration pneumonias or sudden death. The purpose of this review is to describe the characteristics of DM1 that make dysphagia management problematic, and to address the need for disease-specific guidelines and a clinical tool to aid in diagnosing and managing dysphagia in this population.
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PMID:Myotonic dystrophy (DM1) and dysphagia: the need for dysphagia management guidelines and an assessment tool. 2156 Aug 85


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