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)

Clinical, radiological and manometric studies on 27 patients with multiple system atrophy (MSA) were performed to investigate the characteristics of dysphagia. Patients of MSA were divided into 4 groups: 9 patients of OPCA I (duration < 5 years), 6 patients of OPCA II (duration > or = 5 years), 8 patients of SDS (duration < 5 years) and 4 patients of SND (duration < 5 years). A clinical history was taken to distinguish the two types of dysphagia, that is to say, swallowing disturbance in a narrow sense and passage disturbance. In the radiological study, each phase of swallowing was observed by X-rays with contrast medium (Dionosil). In the manometric study, intraluminal resting pressure in the esophagus and pressure of esophageal contraction after swallowing were measured. The results were as follows: 13 patients (OPCA I 2, OPCA II 6, SDS 2, SND 3) experienced the sensation of swallowing disturbance in a narrow sense and 4 patients (OPCA I 1, OPCA II 1, SDS 1, SND 1) had the feeling of passage disturbance. X-ray studies showed 6 patients (OPCA I 0, OPCA II 1, SDS 1, SND 4) had disturbance of lingual movements, 11 patients (OPCA I 1, OPCA II 5, SDS 3, SND 2) had pooling in piriformis sinus and 14 patients (OPCA I 3, OPCA II 4, SDS 5, SND 2) had slight dilatation of the lower esophagus. In the manometric study, 12 patients (OPCA I 4, OPCA II 4, SDS 3, SND 1) were shown to have low intraluminal resting pressure of the upper esophageal sphincter.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Dysphagia in multiple system atrophy--radiological and manometric study]. 833 89

CAG repeat expansions with loss of CAT interruptions in the coding region of the ataxin-1 gene are associated with spinocerebellar ataxia type 1 (SCA1). For molecular genetic diagnosis it is necessary to define the limits of normal and pathological size ranges. In most studies, normal alleles as measured by PCR range from 6-39 units with interruptions of 1-3 CAT trinucleotides that are thought to be involved in the stability of the trinucleotide stretch during DNA replication. Expanded alleles have been reported to carry 39-81 CAG trinucleotides without stabilising CAT interruptions. To evaluate the limits between normal and disease size ranges we analysed the repeat length and composition of the SCA1 gene in 15 individuals with alleles ranging from 36 and 41 triplets for genotype-phenotype correlation studies. We found the 39 trinucleotide-allele to be either interrupted by CAT repeats or formed by a pure CAG stretch. The clinical features of individuals carrying 39 uninterrupted CAG repeats did not differ from the SCA1 phenotype in general with dysphagia, pale discs, pyramidal signs and cerebellar tremor being more frequent as compared to other SCA genotypes. In contrast, the interrupted 39 trinucleotide-allele is not correlated with the SCA1 phenotype.
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PMID:Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. 1197 25