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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study investigated the swallowing physiology of 13 patients [age 27-69 years (mean = 45 years)] with multiple sclerosis (MS) who had Kurtzke Extended Disability Status Scale (EDSS) scores ranging from 2 to 9 (mean = 6) and who complained of difficulty swallowing. Videofluoroscopic recordings of the patients' calibrated liquid and paste bolus swallows were analyzed and compared with published normative data. Results showed that swallowing physiology was disordered in the 13 MS patients with severity level ranging from mild to severe. Eleven patients had primary pharyngeal dysphagia. 1 patient had primary laryngeal dysphagia, and 1 patient had primary oral dysphagia. Laryngeal dysmotility, the predominant anterior pharyngeal segment dysfunction, was evidenced in all 13 patients with MS. They displayed significantly longer-than-normal pharyngeal delay times, shorter-than-normal time intervals from onset of laryngeal excursion to return to rest. and longer-than-normal time intervals between airway closure at the arytenoid to epiglottic base and upper esophageal sphincter opening. Pharyngeal constrictor dysmotility, the predominant posterior pharyngeal segment dysfunction, was observed in 11 of the 13 MS patients. A significant relationship was found between the severity of the MS patients' functional swallowing impairment and posterior pharyngeal segment dysfunction. Material penetrated the supraglottic airway of 9 patients with 1 patient aspirating. A significant relationship was observed between supraglottic penetration and brainstem dysfunction. No significant relationship was found between severity of dysphagia and neurological disability as measured by EDSS scores or neurological impairment as measured by Functional System (FS) scores. Disturbed neuromotor sequencing of laryngeal events and a progression in neuromotor weakening of the pharyngeal constrictors were suggested from the findings.
Dysphagia 2002
PMID:Laryngopharyngeal dysmotility in multiple sclerosis. 1182 Mar 88

Allgrove's or "4 A" syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysphagia or severe (occasionally fatal) hypoglycaemic or hypotensive attacks, related to adrenocortical insufficiency. Onset of adrenal insufficiency or other features may be delayed to adulthood. In contrast with paediatric patients, adult patients with Allgrove's syndrome may present with multisystem neurological disease; the childhood history of achalasia or alacrima may be overlooked. The authors describe two families with two affected siblings and a further unrelated patient with typical clinical features of Allgrove's syndrome, who exhibit signs of multisystem neurological disease including hyperreflexia, muscle wasting, dysarthria, ataxia, optic atrophy, and intellectual impairment. None of the cases have developed adrenal insufficiency but all have progressive neurological disability. Autonomic dysfunction was a significant cause of morbidity in two cases. The three index cases represent the longest described follow up of Allgrove's syndrome into adulthood. It is speculated that they represent a subgroup of patients who follow an often undiagnosed chronic neurological course. Recognition of the syndrome presenting in adult life permits treatment of unrecognised autonomic dysfunction, adrenal insufficiency and dysphagia, and appropriate genetic advice.
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PMID:Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease. 1270 Mar 13

Swallowing disorders are commonly observed in multiple sclerosis (MS) patients. The complications of dysphagia are common causes of morbidity and death in late stages of MS. However, dysphagia in MS usually receives limited attention. The purpose of this study was to determine the prevalence of different kinds of swallowing disorders in MS patients with mild to moderate disability; and to identify possible associations between clinical and demographic features of patients and the presence of dysphagia. The swallowing functions of 101 consecutive MS patients were screened by the Northwestern Dysphagia Patient Check Sheet. This is a screening test which identifies patients with pharyngeal stage disorders, aspiration, oral stage disorders and/or pharyngeal delay. 'Dysphagia' was defined as having at least one of the above mentioned four disorders. Among 101 MS patients, 32 (31.7%) were classified as having dysphagia. Pharyngeal stage disorders were the most common observed impairment (28.7%) and aspiration, oral stage disorders, and pharyngeal delay were observed in 6.9%, 5%, and 1% of patients, respectively. Dysphagic patients had a significantly longer disease duration (p = 0.031) and more neurological impairment in cerebellar functional system (p = 0.04) when compared with non-dysphagic patients. Moreover, dysphagia was significantly more prevalent in patients with more neurological disability as measured by Expanded Disability Status Scale (EDSS) scores (p = 0.04). These results emphasize the importance of assessment and management of swallowing function in MS patients, particularly in patients with a high EDSS score; more severe cerebellar dysfunction, and long disease duration.
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PMID:Oropharyngeal dysphagia in multiple sclerosis. 2020 50

Wilson disease is an autosomal recessive disease that produces a copper accumulation in many organs, initially in the liver, progressing to liver cirrhosis, and in the brain, with different neurologic symptoms. Diagnosis is based on clinical, biochemical, and genetic tests. Different treatments based on chelating agents may help reduce the disease's spontaneous morbidity and mortality. We describe three patients who presented Wilson disease before 18 years of age, with initial neurologic symptoms between 1998 and 2010. After comparison with literature reports, their clinical symptoms, progression, and care allowed us to propose a treatment algorithm. Neurologic symptoms are present in 35% of the patients with Wilson disease such as dystonia, extrapyramidal syndrome, dysarthria, dysphagia, and psychiatric symptoms. The time to diagnosis remains too long and may account for the increased severity of the illness encountered and problems treating these patients. The first treatment choice must be triethylenetetramine, which causes fewer side effects of initial worsening of symptoms compared to D-penicillamine. Zinc therapy is the first treatment for asymptomatic patients or those on maintenance treatment. Finally, liver transplantation is a potential treatment even if the patient presents severe neurological disability because it may improve clinical symptoms. However, further research is warranted on this matter.
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PMID:[Diagnosis and care of Wilson disease with neurological revelation]. 2226 Dec 59