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)

A 2-year-old girl with reducing body myopathy was reported. She had no family history of neuromuscular disease. She developed normally with no delay in milestones during infancy. She had no muscle weakness or hypotonia up to 2 years of age when she received mumps vaccination. Three days after the injection, she was first noticed to have limb muscle weakness. The muscle weakness progressed rapidly with increasing difficulty in gait and raising the upper arms, particularly the left. Four months later, she had difficulty in keeping her head up and could no longer climb the stairs. On physical examination, she had proximal dominant generalized muscle weakness, with a preferential neck muscle involvement. She walked waddlingly and stood up with Gowers' maneuver. Facial and ocular muscles were intact. No dysarthria, dysphagia or respiratory difficulty was noted. EMG showed myopathic pattern. Serum creatine kinase level was moderately elevated to 739 IU/l. In the biopsied left biceps muscle, there was marked variation in fiber size, but no apparent necrotic or regenerating fibers. The most striking feature was the presence of numerous eosinophilic inclusions which reduced nitroblue tetrazolium (NBT) and were, therefore, stained dark with menadione-linked alpha-glycerophosphate dehydrogenase even without the substrate of menadione, showing the histochemical characteristics of "reducing" body. The bodies were predominantly seen in fibers with disorganized intermyofibrillar networks and with high acid phosphatase activity. On electron microscopy, the reducing bodies consisted of fine granular material with the similar electron density to the chromatin granules and were located mostly around the degenerated nuclei, suggesting the nuclear degeneration playing a role in forming the reducing bodies.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Reducing body myopathy--a case report]. 132 Oct 16

An infant presented with congenital hypotonia, poor sucking, apathy, and areflexia. Muscle biopsy at two months of age revealed numerous nemaline rods, suggesting congenital nemaline myopathy. During the ensuing months, familial dysautonomia was suggested by recurrent pulmonary infections, dysphagia, alacrima, hyperhydrosis, emotional lability, and unexplained episodes of hyperthermia and breath-holding spells. The diagnosis was confirmed by positive intradermal histamine and ocular mecholyl tests. The finding of nemaline rods adds a new facet to the recognized polymorphic presentation of familial dysautonomia.
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PMID:Familial dysautonomia manifesting as neonatal nemaline myopathy. 285 35

We describe 8 patients with muscle carnitine deficiency, 7 males and 1 female, varying in age from 5 days to 64 years. Seven had decreased muscle strength and all had increased lipids droplets in the muscle biopsy. The symptoms began in the first days of life in three cases, in childhood in two, in adult life in two, while one case was free of symptoms at age 64 (heterozygote?). Some patients had difficulty chewing, dysphagia, hypotonia and splenomegaly; one patient had a fluctuating clinical course. All had elevated serum enzymes, mainly creatine-kinase. The electromyogram showed primary muscle involvement in one case, denervation in two, "mixed" features in two and was not done in three. The muscle biopsy, beside lipid storage, showed denervation in four, chronic myopathy in four and type II fiber atrophy in one. In two cases, histological findings suggested infantile spinal muscle atrophy. One patient appeared to have a systemic form of carnitine deficiency, with severe myocardial involvement and died of heart failure before treatment was initiated. A discussion about clinical findings, metabolism and therapeutic aspects of muscle carnitine deficiency is made.
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PMID:[Muscle carnitine deficiency: report of 8 cases with clinical, electromyographic, histochemical and biochemical studies]. 409 39

Two siblings with cytochrome c oxidase deficiency are described. One of them died of subacute necrotizing encephalomyelopathy which was proven by autopsy. The other was also suspected of having Leigh encephalomyelopathy by the findings on brain CT scans. The former, a younger brother, was in good health until the age of 10 months when progressive dysphagia, muscular hypotonia and abnormal eye movements became apparent. Six months later he suddenly died due to respiratory insufficiency. The latter, an elder brother, started to show nystagmus, abnormal eye movements and ataxia at the age of 5 years. A deficiency of cytochrome c oxidase in the younger brother was demonstrated in autopsied liver and brain, while such a deficiency in the elder brother was shown in biopsied peripheral muscle tissue and in cultured skin fibroblasts. Both patients showed a marked heat lability of cytochrome c oxidase. These results suggest that the biochemical defect observed in the siblings is due to a genetic defect. This seems to be the first case of a generalized defect in cytochrome c oxidase.
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PMID:Cytochrome C oxidase deficiency in two siblings with Leigh encephalomyelopathy. 609 13

Fifty-eight consecutive patients were investigated for spontaneous chest pain without symptoms of effort angina, previous myocardial infarction or other signs of cardiac disease, to determine the incidence of oesophageal spasm. The character of the chest pain, its context and the results of resting ECGs were analysed. An ECG recorded during chest pain was available in 23 cases and exercise stress testing was performed in 43 cases. Coronary angiography was carried out in all patients. The coronary arteries were normal or showed little change in 44 patients. Further investigations were ordered: oesophageal manometry (42 cases), echocardiography 44 cases) and ergometrine provocation tests (44 cases). The patients were then divided into 4 groups: 23 patients (40 p. 100) with coronary artery disease; either atheroma (14 cases) or spasm (9 cases); 8 patients (13,5 p. 100) with non-coronary cardiac pathology (myocardial hypertrophy or mitral valve prolapse); 15 patients (26 p. 100) with oesophageal spasm alone; 12 patients (20,5 p. 100) with no obvious organic disease. Often simulating spontaneous angina, clinically and electrocardiographically, oesophageal spasm may sometimes be distinguished (6 out of 15 cases) by the finding of painful dysphagia on swallowing ice-cold liquid. The condition is confirmed by oesophageal manometry which shows abnormalities of oesophageal contraction. In addition, 13 out of 15 patients in our series had hypotonia of the gastro-oesophageal sphincter. Dyskinetic phenomena and this hypotonia should be taken into consideration in the treatment of this condition.
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PMID:[Esophageal spasm: a common cause of spontaneous precordial pain]. 643 62

A two year and ten-month-old girl with cerebello-brain stem leukodystrophy is presented. She was hypotonic with spasticity and showed delayed motor development until she was twelve months old, when regression of motor activities began. Progressive hypotonia, dysphagia and fatal respiratory abnormalities developed. Auditory brain stem response was absent. Pathological examination revealed primary demyelination with a predilection for the cerebellum, brain stem and spinal cord, in association with changes of the cerebellar cortex, pontine nuclei, inferior olivary nuclei and part of the basal ganglia. Clinical, pathological and biochemical studies revealed that this disease is different from metachromatic leukodystrophy, Krabbe's globoid cell leukodystrophy and adrenoleukodystrophy. The clinical entity of cerebello-brain stem orthochromatic leukodystrophy is discussed.
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PMID:Cerebello-brain stem orthochromatic leukodystrophy with floppiness and bulbar paralysis. 647 80

In the surgical treatment of gastric ulcer (G,U,), the same techniques have been employed as have been used in duodenal ulcer (D.U.). This correspondence also holds true with superselective vagotomy and proximal gastric vagotomy (P.G.V.). The technique was primarily indicated in the treatment of D.U. and had very exciting preliminary results, above all owing to its reduced morbidity both immediately and late after surgery, and to its almost null mortality. With a view to analyzing the results of the use of P.G.V. in the treatment of gastric ulcer, thirteen patients were operated upon who were bearers of G.U. not associated with D.U. nor prepyloric ulcer. There were no operating accidents or immediate post-operative complications, nor was there any mortality. In the post-operative period following lasting an average of 17.7 months, we observed the clinical manifestation of the ulcer and symptoms accompaning the operation in addition to performing endoscopy on all of the patients. Eight patients were absolutely asymptomatic after surgery; one had slight dysphagia that diminished about 3 months after P.G.V. Three patients had recurrence of the symptoms of ulcer and one complained of intense epigastric fullness, vomting, weight loss, and a crisis of diarrhea. Radiologic and endoscopic examinations showed that this last patient had hypotonia and marked gastric stasis that were corrected surgically by means of antrectomy and the reconstitution of GI tract by the BI technique, with good results. In three patients endoscopy showed postoperative recurrence of the G.U., one of whom is assymptomatic with the clinical treatment; the other two were submitted to antrectomy with BI anastomosis in one and a 2/3 gastrectomy with BI reconstruction in the other. The cure of the lesion in 23% of the cases in the post-operative follow-up lasting an average of 17.7 months permits us henceforward to contra-indicate the P.G.V. used per se for the treatment of G.U.
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PMID:[Critical analysis of the treatment of gastric ulcer by proximal gastric vagotomy]. 666 Oct 91

The clinical features, neuroimaging, and neuropathologic findings of a new syndrome, characterized by onset in early infancy, progressive course, choreiform movements, hypotonia, and dysphagia, are described in 2 siblings originating from a consanguineous marriage. The serial neuroimaging studies indicated progressive loss of volume of both caudate nuclei and change in signal intensity in putamina. Pathologically, there was severe neuronal loss and gliosis in the striatum and thalamus. This pathologic pattern in association with clinical and radiologic correlates, to our knowledge, has not been previously described. It appears that this syndrome is an autosomal recessive disorder.
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PMID:Infantile progressive striato-thalamic degeneration in two siblings: a new syndrome. 761 97

We describe a 6 year old girl with chorea following cardiac surgery, the first such report in Japan. The radical operation for total anomalous pulmonary venous return was carried out at the age of 11 months under hypothermia. Seven days after the operation, a sudden onset of irritability, dysphagia, chorea, generalized, hypotonia, and complete external ophthalmoplegia were seen. These symptoms diminished gradually, but chorea remained. We speculated that the cause of chorea arose from the cardiac surgery under hypothermia. It is necessary to consider 'cardiac surgery' as one of the triggers of certain movement disorders including chorea. We tried treatment with haloperidol, pimozide, and several other drugs; only pimozide was effective in decreasing chorea without any side-effects.
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PMID:Persistent chorea following cardiac surgery for congenital heart disease. 764 1

Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and peripheral neuropathy. The onset of symptoms is usually between 20 and 40 years. We describe an infant who presented with neonatal hypotonia, developmental delay, and dysphagia. Ocular findings of retinitis pigmentosa were noted at 10 months. Her father had mild spinocerebellar ataxia first noted at age 22 years. Molecular studies of the SCA2 gene showed a CAG expansion of 43 repeats in the father and an extreme CAG repeat expansion of more than 200 in the baby. Our report expands the known phenotype and genotype of SCA2. Testing for dominant ataxias should be included in the evaluation of infants with nonspecific progressive neurologic symptoms and retinitis pigmentosa, especially in cases with a positive family history for spinocerebellar ataxia.
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PMID:Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. 977 6


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