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)

Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations in nuclear or mitochondrial DNA located genes (primary MCPs), or due to exogenous factors (secondary MCPs). MCPs usually show a chronic, slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. Although several proteins with signalling, assembling, transport, enzymatic function can be impaired in MCP, most frequently the activity of the respiratory chain (RC) protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. MCPs represent a diagnostic challenge because of their wide variation in presentation and course. Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia). Apart from well-recognized syndromes, MCP should be considered in any patient with unexplained progressive multisystem disorder. Although there is actually no specific therapy and cure for MCP, many secondary problems require specific treatment. The rapidly increasing understanding of the pathophysiological background of MCPs may further facilitate the diagnostic approach and open perspectives to future, possibly causative therapies.
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PMID:Mitochondriopathies. 1500 63

In summary, the management of oropharyngeal dysphagia often involves a polydisciplinary evaluation, the aims of which are to identify and characterize oropharyngeal dysphagia as well as identify the underlying cause whenever possible. A specific diagnosis of the underlying cause of neurogenic dysphagia is rarely made on the basis of videoradiographic or manometric observations because observed patterns of oral, laryngeal, pharyngeal and cricopharyngeal dysfunction can exist in a range of neurogenic disorders. Finding the underlying cause of oropharyngeal dysphagia often requires the clinical team to think broadly, owing to the wide array of diagnostic possibilities. Special emphasis should be placed on detecting treatable underlying systemic conditions such as thyrotoxicosis, myopathy, myasthenia, and neoplasms. While seeking evidence for a systemic disorder, the second aim of clinical evaluation is to identify surgically (or endoscopically) treatable structural abnormalities. Careful radiographic and/or endoscopic examination of the oropharynx and proximal esophagus is aimed at detecting signs of neoplasm, infection, strictures, or diverticuli, each of which implies a specific therapy. After important etiologic abnormalities have been sought, functional abnormalities of the oropharyngeal swallow should be defined. Characterization of the temporal disruption of the swallow coordination and identification of the underlying mechanism leading to that dysfunction requires a videofluoroscopic or cineradiographic examination. In some instances, especially with suspected UES dysfunction, concurrent use of pharyngeal manometry with videofluoroscopy can allow further delineation of the underlying pathology and direct treatment. From this point onwards, management decisions will be applicable to those patients in whom a structural surgically treatable abnormality has been excluded. When considering further treatment strategies, the clinician must first establish whether institution of non-oral (e.g. gastrostomy) feeding is indicated. This will depend on establishing the likelihood that the patient will be able to sustain adequate nutrition safely via the oral route and on the unproven, but reasonable, premise that non-oral feeding is likely to reduce the risk of aspiration pneumonia. This decision is made in conjunction with the speech language pathologist who can, on the basis of videofluoroscopic analysis of therapeutic maneuvers, estimate the likelihood that such maneuvers will reduce the risks of oral feeding and enhance the efficiency of the swallow. The natural history and prognosis of the underlying cause for dysphagia, as well as the patient's cognitive ability, will also influence the choice between oral and non-oral feeding. Introduction of appropriate dietary modification and specific swallow therapy by the speech language pathologist is appropriate at this point. The choices among therapies will be directed by the videofluoroscopic findings and the individual patient's ability to comprehend and cooperate with the various strategies. This process will frequently involve a subsequent videofluoroscopic examination to assess progress and the advisability of ongoing swallow therapy and ascertain whether alternatives should be considered. The place of cricopharyngeal myotomy, and other procedures such as laryngeal suspension, in this class of patient remains controversial. The clinician can predict an overall response rate from myotomy of around 60%, but, at present, cannot predict the likelihood of response in an individual patient with certainty. Until further well designed studies in clearly defined subsets of patients are conducted, the decision about myotomy will remain empirical after informing the patient of the risk and possible, but unproven, benefit.
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PMID:Conferencia magistral oropharyngeal disorders: diagnosis and treatment. 1514 91

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.
Dysphagia 2004
PMID:Dysphagia as a manifestation of thyrotoxicosis: report of three cases and literature review. 1538

Cytoplasmic body myopathy (CBM) is characterized by proteinaceous inclusion bodies in muscle tissue. A 43-year-old woman presented with rapidly progressive weakness and dysphagia. Electromyography (EMG) elsewhere demonstrated lower-limb chronic partial denervation. Muscle biopsy showed fiber size variation without diagnostic features. A diagnosis of possible motor neuron disease was made and the patient was commenced on riluzole. Subsequently, the patient's condition stabilized, prompting reassessment. Repeat EMG demonstrated no features of denervation and was more suggestive of a myopathic process. Review of the original muscle biopsy showed cytoplasmic bodies. The case highlights a further diagnostic possibility in the assessment of patients with "possible" motor neuron disease. The clinical features of CBM are briefly reviewed.
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PMID:Cytoplasmic body myopathy masquerading as motor neuron disease. 1538 60

A retrospective study was performed on 200 randomly selected cases of inflammatory myopathy in dogs from diagnostic muscle biopsies received at the Comparative Neuromuscular Laboratory, University of California, San Diego. The most common clinical signs in dogs diagnosed with an inflammatory myopathy were generalized weakness, stilted gait, dysphagia, masticatory or generalized muscle atrophy, inability to open the jaw, megaesophagus, and dysphonia. Myalgia was rarely described. Age of onset ranged from 0.25 to 14 years. Genders were equally represented. Breed distribution approximated the 2002 American Kennel Club registration statistics (r = .85) with the notable exception of Boxers and Newfoundlands. From the results of muscle biopsies, clinical signs, and presence or absence of antibodies against type 2M fibers, dogs were classified as a generalized inflammatory myopathy (gIM)--including immune-mediated polymyositis; infectious and preneoplastic myositis; and, rarely, dermatomyositislike or overlap syndromes or unclassified myositis-or a focal inflammatory myopathy (flM)--including masticatory muscle and extraocular myositis. Average creatine kinase (CK) and aspartate aminotransferase (AST) concentrations in gIMs were significantly higher than those with fIMs (P < .05). Neoplasia developed in 12 of 200 dogs within 12 months of diagnosis of polymyositis, with lymphoma diagnosed in 6 of 32 Boxers. Inflammatory myopathy was associated with antibody titers against infectious diseases in 38 dogs. Neospora caninum and Hepatozoon americanum cysts were found in tissues of 2 dogs not serologically tested. Antibodies against an unidentified sarcolemmal antigen were found in 9 of 19 Newfoundlands with polymyositis. The spectrum of canine inflammatory myopathies can be broad, with infectious etiologies relatively common, and can include preneoplastic and uncharacterized syndromes.
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PMID:Canine inflammatory myopathies: a clinicopathologic review of 200 cases. 1551 85

There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter The authors report here 2 siblings with clinical features of OPDM. This entity is rare outside Japan and this is the first family to be reported from Thailand
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PMID:Oculopharyngodistal myopathy in a Thai family. 1582 51

Two adult Boxers were evaluated because of chronic dysphagia of several years' duration. Serum creatine kinase activity was high in both dogs, but other hematologic or serum biochemical abnormalities were not detected. Esophagraphy revealed abnormalities of the cricopharyngeal phase of swallowing in both dogs, and electromyography of the pharyngeal and laryngeal muscles revealed complex repetitive discharges, positive sharp waves, and fibrillation potentials characteristic of primary myopathy or neuropathy. Because of the severity of their condition, both dogs were euthanatized. Histologically, mixed-cell infiltrates were seen in sections of the masseter and thyropharyngeal muscles. Results of indirect immunofluorescence staining for proteins associated with dystrophic myopathy were unremarkable, except for decreased staining for integrin alpha7. A diagnosis of chronic inflammatory myopathy was made. The clinical importance of reduced staining for integrin alpha7 could not be determined but was considered to be a result of the myopathy.
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PMID:Dysphagia as the primary clinical abnormality in two dogs with inflammatory myopathy. 1588 4

Modifications of phonation occurring after total thyroidectomy (TT) are usually attributed to surgical malpractice, but other causes of voice impairment even in nonoperated subjects should also be taken into account. This study analyzes 208 patients who underwent TT from January 1, 1999 through December 31, 2001. Follow-up ended on December 31, 2003. Only cases in which the surgeon ruled out the possibility of operative damage to the laryngeal nerves were included. All patients underwent pre- and postoperative clinical and instrumental nose and throat examination (NTE). Preoperatively, 86 patients (41%) showed hoarseness or dysphagia: 4 (2%) monoplegia and 12 (6%) hypomobility of the vocal cords due to impaired function of the recurrent laryngeal nerve (RLN); 6 (3%) cord hypotonia due to impairment of the superior laryngeal nerve (SLN); 34 (16%) dysphagia: and 30 (14%) hoarseness due to other causes. At follow-up 1 month after surgery, 71 patients (34%) had an onset of previously absent signs and symptoms: 8 (4%) had palsy of one vocal cord (2% permanent); 6 (3%) had cord hypomobility (all temporary); 12 (6%) had cord hypotonia due to disease of the SLN, 4 of which (2%) were permanent; 44 patients (21%) had symptoms due to scarring and adhesions between the laryngotracheal axis and the prethyroid muscles and between these and the skin. One patient (0.5%) had a nodular cord lesion that occurred after 3 months. Overall, more than one-third of the patients had preoperative voice modifications or swallowing impairment, around one-third had these problems after TT, and less than one-third were free of pre- and postoperative complications. The surgeon's care to avoid damage to the anatomica integrity of the of laryngeal nerves does not exclude functional problems of the nerves and of laryngeal dynamics. In fact, such problems could be referred to outcomes linked to the operation itself (hematoma, edema, scarring adhesion) or to events that only temporarily follow surgery but must be considered as an unavoidable sequel (e.g., neuritis, viral neuritis, myopathy). The patient should undergo a careful clinical and instrumental NTE to detect conditions prior to surgery, and the information provided by the surgeons should be thorough to allow the patient to be aware of all possible sequels and consequences.
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PMID:Recurrent laryngeal nerve damage and phonetic modifications after total thyroidectomy: surgical malpractice only or predictable sequence? 1589 96

Polysaccharide myopathy is a rare form of storage muscular disorder. The clinical picture of this particular form of myopathy is unspecific. We report a 62-year-old woman with late-onset progressive weakness and wasting, affecting proximal muscles of the four limbs and the girdles. No myalgia, dysphagia nor symptoms of cardiac failure were observed. Muscle biopsy revealed a vacuolar myopathy with accumulation of amylopectin-like polysaccharide. This material was strongly PAS-positive and diastase-resistant. At electron microscopy, the deposits were composed of non-membrane-bound filamentous and granular material surrounded by numerous mitochondria. No enzyme deficiency was found. Clinical presentation of our patient was similar to the 16 cases reported in the literature. She did not have myocardiopathy and her survival is much longer. Hypothetic mechanisms of polysaccharide accumulation are reviewed.
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PMID:Polysaccharide storage myopathy--case report and literature review. 1594 64

In a new family with X-linked congenital autophagic vacuolar myopathy (AVM), seven affected boys presented with congenital hypotonia, dyspnea, and dysphagia with delayed motor milestones. Muscle pathology revealed autophagic vacuoles with sarcolemmal features, multilayered basal lamina with marked sarcolemmal deposition of C5-9 membrane attack complex and calcium, histologically indistinguishable from childhood-onset X-linked myopathy with excessive autophagy (XMEA). Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations.
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PMID:A new congenital form of X-linked autophagic vacuolar myopathy. 1621 76


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