Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myotonic dystrophy or Steinert's disease may be discovered during acute respiratory failure, sometimes caused by a general anaesthetic. It complicates chronic respiratory failure which is present in almost all cases, both restrictive and obstructive, the clinical signs of which progress with the myopathy. Apart from myotonic degeneration of the respiratory muscles, a hypoventilation syndrome of central origin has been described, but the etiology of this respiratory failure is dominated by repeated aspiration pneumonia favoured by constant dysphagia and passage of food into the trachea and poor cough reflex. One should attempt to correct this.
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PMID:[Myotonic dystrophy and acute respiratory insufficiency]. 19 96

In Myotonic Dystrophy symptoms of gastrointestinal dysfunction may dominate the clinical picture or they may be manifested long before the musculoskeletal disturbances become apparent. A case of Myotonic Dystrophy in a 26-year-old woman with dysphagia as the symptom of clinical presentation is reported. Manometric investigations demonstrated motor dysfunctions in pharynx and in proximal, middle and distal portions of the esophageal body, indicating both striated and smooth muscle involvement. The pathophysiology of the esophageal motility disorders in Myotonic Dystrophy and the related therapeutic problems are briefly discussed.
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PMID:[Pharyngo-esophageal motility disorders in Steinert's myotonic dystrophy. Description of a case presenting with dysphagia]. 149 94

We studied digestive manifestations occurring during follow-up of 19 cases of myotonic dystrophy. GI symptoms occurred in 10 patients (53%), mainly dysphagia (n = 7). In patients undergoing investigations (n = 7), their digestive troubles were probably or definitively related to the neurological disease in 6 cases. Upper GI endoscopy was normal in 5 dysphagic patients. The oesophageal manometry was abnormal in 3 of 4 patients. Complications developed in 3 cases (16%). One patient presented two episodes of spontaneous pneumoperitoneum. A second one developed a chronic colonic pseudo-obstruction with megacolon treated by subtotal colectomy. Manometric studies revealed oesophageal aperistalsis, low amplitude of gastro-jejunal contractions but persistence of migrating motor complexes and a normal recto-anal reflex. A third patient developed an acute pseudo-obstruction with ischemic colitis. In conclusion, myotonic dystrophy frequently disturbs digestive tract motility and may cause complications such as intestinal pseudo-obstruction.
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PMID:[Digestive system manifestations in Steinert's disease. Analysis of 19 cases of which 10 with digestive symptoms]. 236 73

Thirty-four patients with an identified muscular disease were referred to our department for assessment and treatment of swallowing difficulties. Their ages ranged from 16 to 91 years (mean 59). The diagnoses were oculopharyngeal dystrophy in 17 patients, Steinert myotonic dystrophy in 6, mitochondrial myopathies in 4, polymyositis in 3, and other types in 4 patients. The main consequences of the dysphagia were weight loss (12 patients), pulmonary infections (15 patients), modified food consistency (18 patients) and non-oral feeding (3 patients). Several techniques were used to assess the different stages of deglutition: physical examination during swallowing, videofluoroscopy, pharyngoesophageal manometry, videofibroscopy of the pharynx during swallowing. Major pathological features found in the pharynx were decreased pharynx peristaltis and impaired UES relaxation. Cricopharyngeal myotomy was performed in 11 myopathic patients (median follow-up 24.9 months), while it was unnecessary, refused or contraindicated in the other patients. The procedure was successful in 8 patients whose dysphagia was dramatically improved, and failed in 3 patients. Pharyngeal perstaltis was severely impaired only in the 3 failures and was partly preserved in the improved cases. We conclude that pharyngeal function is the major prognostic factor. Cricopharyngeal myotomy is an effective treatment in those cases where cricopharyngeal dysfunction is a predominant problem or where pharyngeal peristaltis is partly impaired, since the procedure removes one obstacle. It is contraindicated when pharynx propulsion is severely impaired.
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PMID:Swallowing disorders in muscular diseases: functional assessment and indications of cricopharyngeal myotomy. 816 70

Although the genetic basis of myotonic dystrophy (MD) has recently been clarified, data on prognosis and causes of death are few. To assess the relation between the age of onset and the degree to which activities of daily living (ADL) were affected, we studied statistically 586 patients with MD, who were registered in the database in hospitals of Japan in 1985. Many of the young onset patients had a long duration of illness, and many of the long-term patients showed the more severely affected ADL. When we adjusted the duration of illness, using the Mantel extension method, many patients whose age of onset was older had poorer ADL than the younger onset ones. To clarify the causes of death in MD, we collected data on 72 patients who succumbed to it from answers to questionnaires sent to all councilors of the Japanese Society of Neurology and the Japanese Society of Child Neurology in 1994. Before their deaths, among 32 MD cases unable to sit up, 16 (50%) died from respiratory involvement (respiratory failure and pneumonia), 8 (25%) from dysphagia (i.e., aspiration pneumonia and choking) and 2 (6%) from cardiac involvement. Moreover, among 25 cases that could sit up, 9 cases (36%) died from dysphagia, 4 (15%) from respiratory involvement and 2 (8%) from cardiac involvement. Dysphagia and cardiac involvement are often the causes of death in the early stage. To avoid these complications, management of swallowing and careful cardiac control is essential in patients with MD.
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PMID:[Prognosis for myotonic dystrophy]. 875 40

To investigate pharyngeal and esophageal motor function in myotonic dystrophy (MD), and its relationship to esophageal symptoms, we used low-compliance, high-fidelity esophageal manometry and videofluorography to evaluate 14 consecutive MD patients. Patients exhibited a consistent, typical motor pattern, involving a marked reduction in resting tone of both the upper and lower esophageal sphincters, and a reduction in contraction pressure in the pharynx and throughout the esophagus. Radiology showed hypotonic pharynx with stasis and a hypo- or amotile, often dilated, esophagus. These findings were nonspecific, however, being present in patients both with and without dysphagia, which suggests that MD patients have valid compensatory mechanisms. Dysphagia only correlated to the pharyngeal impairment at manometry. Furthermore, the results of our study suggest that not only the proximal, striated part of the gullet, but also the distal part (in which smooth muscle dominates) is involved in the disease. The latter leads to the impairment of the LES resting tone and competence, highlighting the risk of gastroesophageal reflux disease in these patients.
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PMID:Esophageal motor function in patients with myotonic dystrophy. 888 18

Myotonic dystrophy is an autosomal dominant inherited disease of the skeletal and cardiac musculature that involves the pharyngeal and gastrointestinal smooth and striated muscles, resulting in velopharyngeal insufficiency, Swallowing difficulties, gastrointestinal motility disorders and anal incontinence. Gastrointestinal symptoms are found in a large proportion of patients suffering from this disease and may herald the onset of muscular disorders, in rare cases they are even the predominant feature of the disorder. We report on a 31-years-old patient with formerly undiagnosed myotonic dystrophy in combination with a non-rotation of the intestinal tract, an association of disorders that to our knowledge never has been reported before. Our patient was admitted as an emergency with signs of an acute abdomen with ileus, associated with acute aspiration pneumonia. Surgical intervention was avoided once the diagnosis of myotonic dystrophy had been confirmed and the patient was treated successfully by conservative therapy. A review of the literature indicates that conservative treatment of motility disorders of the bowel in patients with myotonic dystrophy is to be recommended.
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PMID:Intestinal non-rotation and pseudoobstruction in myotonic dystrophy: case report and review of the literature. 891 34

Alteration of the pharyngoesophageal musculature is a common finding in patients with myotonic dystrophy (MD), regardless of the presence of dysphagia. The aim of the present study was to determine whether a specific pattern of swallowing abnormalities could be identified in MD patients, and the possible correlation with the size of CTG repeats. Fifteen MD patients, 8 of whom were asymptomatic for dysphagia, underwent a videofluoroscopic study of swallowing. Alterations of the pharyngoesophageal phase of swallowing were detected in 12 of 15 patients, 6 without clinical evidence of dysphagia. Incomplete relaxation of the upper esophageal sphincter (UES) and esophageal hypotonia were the most common alterations. We found a significant correlation between the number of radiological alterations and the size of CTG repeats. A typical radiological pattern of swallowing has also been identified. The role of videofluoroscopy in evaluation of MD patients is briefly discussed.
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PMID:Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients. 1093 40

A 56-year-old woman with a 23 year-history of myotonic dystrophy was admitted to our hospital because of dysphagia and aspiration pneumonia. On admission, patient's ECG showed Ist degree of atrioventricular block and elongation of QRS (133 msec.). On the third hospital day, abnormal Q wave abruptly appeared in aVL associated with elevation of ST segment in V2 and V3, reverse T wave in I, II, III, aVF and V 2-6 leads on ECG. Echo cardiogram demonstrated asynergy at the apex and septal wall. Coronary angiography was normal. Left ventricular ejection fraction determined by left ventriculography decreased to 47.4%. Based on these findings, we thought "stunned myocardium" had developed. Biopsied myocardium from the apex, septum, and free wall showed non-specific findings including mild fibrosis and lymphocytic infiltration. Although overt myocardial disease is rare in myotonic dystrophy, myocardiac disease such as "stunned myocardium" not due to arrhythmia or coronary angiopathy may develop under severe infection, stress, and/or respiratory distress.
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PMID:["Stunned myocardium" on echo cardiogram in myotonic dystrophy: a case report]. 1235 86

Myotonic dystrophy (MD) is characterized by myotonic phenomena and progressive muscular weakness. Involvement of the gastrointestinal tract is frequent and may occur at any level. The clinical manifestations have previously been attributed to motility disorders caused by smooth muscle damage, but histologic evidence of alterations has been scarce and conflicting. A neural factor has also been hypothesized. In the upper digestive tract, dysphagia, heartburn, regurgitation and dyspepsia are the most common complaints, while in the lower tract, abdominal pain, bloating and changes in bowel habits are often reported. Digestive symptoms may be the first sign of dystrophic disease and may precede the musculo-skeletal features. The impairment of gastrointestinal function may be sometimes so gradual that the patients adapt to it with little awareness of symptoms. In such cases routine endoscopic and ultrasonographic evaluations are not sufficient and targeted techniques (electrogastrography, manometry, electromyography, functional ultrasonography, scintigraphy, etc.) are needed. There is a low correlation between the degree of skeletal muscle involvement and the presence and severity of gastrointestinal disturbances whereas a positive correlation with the duration of the skeletal muscle disease has been reported. The drugs recommended for treating the gastrointestinal complaints such as prokinetic, anti-dyspeptic drugs and laxatives, are mainly aimed at correcting the motility disorders. Gastrointestinal involvement in MD remains a complex and intriguing condition since many important problems are still unsolved. Further studies concentrating on genetic aspects, early diagnostic techniques and the development of new therapeutic strategies are needed to improve our management of the gastrointestinal manifestations of MD.
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PMID:Gastrointestinal manifestations in myotonic muscular dystrophy. 1660 87


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