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)

The effect of botulinum toxin A treatment was studied in patients with idiopathic torticollis. Twenty patients with idiopathic torticollis received electromyographically guided intramuscular botulinum toxin A into the hyperactive neck muscles. In all, 48 treatments were given. The injections were repeated with intervals of 11 to 35 weeks (mean 18.7 weeks). The grade of improvement was estimated subjectively using a visual analogue scale. An overall improvement of 55% compared with the status before treatment was found. The best result obtained in each individual patient varied from 20% to 84% (mean 66%). The effect of the treatment began to wear off after eight to 22 weeks (mean 11.5 weeks). The side effects consisted of short term dysphagia in two patients. The administration of botulinum toxin in idiopathic torticollis is a safe and beneficial treatment with few side effects. The EMG guidance of injections proved to be helpful as it restricted the injections into muscles with electromyographic hyperactivity, thereby economizing the amount of toxin given. It is doubtful if double-blind studies of botulinum toxin can be undertaken due to the marked muscular wasting and weakness caused by the injections.
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PMID:[Torticollis treated with botulinum toxin]. 844 96

This article presents basic information on the clinical features of HIV infection, most of which are related to the profound immune deficiency associated with HIV/AIDS. Primary HIV infection is associated with clinical symptoms, primarily a mononucleosis syndrome, in about 50% of cases. In the ensuing 10 years, more than 50% of HIV-infected individuals develop the opportunistic infections (OIs) indicative of the onset of AIDS. Common presentations of AIDS include pneumonia, dysphagia, diarrhea, neurologic symptoms, fever, wasting, anemia, and vision loss. Monitoring of peripheral blood CD4 T-lymphocytes provides a measure of the current risk of OIs and a guide for antiretroviral therapy. Protease inhibitors, used in combination with other antiretrovirals, allow long-term control of HIV disease, but the substantial cost of these drugs has prohibited their widespread use in developing countries. Treatment of HIV-related infections must be followed by a maintenance regimen intended to prevent relapse.
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PMID:HIV infection and AIDS. 979 58

1. Amyotrophic lateral sclerosis (ALS) is a degenerative disorder characterized by selective damage to the neural system that mediates voluntary movement. Although the pathophysiologic process of ALS remains unknown, about 5 to 10% of cases are familial. According to genetic linkage studies, the familial ALS (FALS) gene has been mapped on chromosome 21 in some families and recent work identified some different missense mutations in the Cu/Zn superoxide dismutase gene in FALS families. 2. We recently identified five mutations in six FALS families. The mutations identified in our FALS families are H46R, L84V, I104F, S134N, and V148I. The H46R mutation that locates in the active site of Cu/Zn SOD gene is associated with two Japanese families with very slow progression of ALS. On the other hand, the L84V mutation associated with a rapidly progressive loss of motor function with predominant lower motor neuron manifestations. 3. In the family with the V148I, the phenotype of the patient varied very much among the affected members. One case had weakness of the lower extremities at first and died without bulbar paresis. The second case first noticed wasting of the upper limbs with bulbar symptoms, but the third had weakness of upper extremities without developing dysarthria nor dysphagia until death. These mutations account for 50% of all FALS families screened, although Cu/Zn SOD gene mutations are responsible for less than about 13-21% in the Western population. 4. Our results indicate that the progression of disease with mutations of Cu/Zn SOD is well correlated with each mutation. The exact mechanism by which the abnormal Cu/Zn SOD molecules selectively affect the function of motor neurons is still unknown.
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PMID:Molecular analyses of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan. 987 71

A patient with polymyositis manifesting severe myocardial damage and conduction block is described. A 57-year-old man presented dysarthria, dysphagia, proximal-dominant muscle weakness and wasting of the extremities. Muscle biopsy revealed degeneration and regeneration of muscle fibers and infiltration of mononuclear cells. After admission, muscle weakness rapidly progressed and mechanical ventilation was needed for respiratory failure. Simultaneously, cardiac symptom developed and resulted in bradycardia and trifascicular conduction block, which required a pacemaker. Echocardiogram revealed diffuse hypokinesia, ventricular enlargement and thickened wall. Marked elevations of serum CK-MB, cardiac myosin light chain I and cardiac troponin T were observed. High dose administration of methylprednisolone resulted in improvement of muscular and cardiac symptoms, and prevented complete heart block. Immediate and high dose of steroid therapy was considered to be effective for severe myocarditis in polymyositis.
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PMID:[A patient of polymyositis with severe myocardial damage and conduction block]. 1039 Oct 81

The schwannoma is thought to arise from the schwann cells of the nerve sheath. This tumor is usually solitary and may arise from any cranial or peripheral nerve. It is encapsulated and appears to arise focally on a nerve trunk so that the nerve itself is stretched over the tumor rather than running through it as in neurofibroma. This report is unusual as the tumor started as a cervical swelling which subsequently grew into the mediastinum simulating a retrosternal goiter. The patient, a 25 year-old female was referred to the University College Hospital, Ibadan, 24 hours after an attempted thyroidectomy at a private hospital. The history was of a painless anterior neck swelling of 4 years duration devoid of symptoms of hyperthyroidism with associated dysphagia and weakness of the left hand. Examination showed an asthenic young woman. Her voice was hoarse but there were no eye signs suggestive of thyrotoxicosis. On the anterior neck was a sutured skin-crease scar over a diffuse anterior neck swelling which one could not get below. The left hand showed wasting of the thenar and hypothenar eminences. Thyroid function test results were within normal limits, indirect laryngoscopy showed a left vocal cord paralysis, packed cell volume was 38%. Her chest x-ray showed a huge left retrosternal and apical soft tissue mass displacing the trachea to the right (figure 1). A fine needle aspiration cytology was reported as a chronic lymphocytic thyroiditis. A presumptive diagnosis of thyroid carcinoma with retrosternal extension was made. At surgery, manipulation of the mass was difficult as the tissue was soft, slimy and ruptured easily. Severe hemorrhage was encountered necessitating a median sternotomy to control the bleeding vessels. Her post-operative period was stormy, however she thereafter made gradual progress to warrant her discharge six weeks post surgery.
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PMID:Schwannoma of the left brachial plexus mimicking a cervicomediastinal goiter in a young Nigerian lady. 1274 65

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

Whereas the most powerful stimuli for bone formation is supposed to be a stretching of muscles, Frost HM classified the effect of muscle on bone mineral density (BMD) into various types: 1. age-related loss of bone mineral density (BMD) is partly due to loss of muscular wasting, 2. the increase of BMD in obesity is due to the increase in muscular power to support the increased body weight and 3. the decrease of BMD in chronic wasting disease is partly due to the decrease in muscular power. Likewise, the decrease in BMD in mandibular alveolar bones will be partly due to the decrease in the power of masticating muscles, if such exists. A case report of mitochondrial encephalo-myopathy associated with impaired function of cranial nerves involving trigeminus nerves and impaired function of masticating muscles and dysphagia. This patient showed decrease in alveolar BMD and atrophy of mandibular.
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PMID:[Muscular power of masticating muscles and mandibular osteoporosis]. 1646 28

Muscular side effects of various anesthetics, analgetics, antibiotics, antihistaminic drugs, antiretrovirals, cardiotropics, immunosuppressants, lipid-lowering drugs, psychotropic drugs, anticancer drugs, and other substances are more frequent than assumed and are easily overlooked. Clinically, muscular side effects manifest as fatigue, myalgias, persistent or transient weakness, stiffness, intolerance to exercise, psychomotor slowing, muscle cramps, wasting, dyspnea, dysphagia, fasciculations, reduced tendon reflexes, impaired consciousness, myoglobinuria, renal failure, or hyperthermia. Diagnosis of these drug-induced myopathies is based on history, clinical neurologic examination, blood work, urine analysis, repetitive stimulation, electromyography, and muscle biopsy. A drug which induces muscular side effects should never be given again. Particularly in patients suffering from primary myopathy, myotoxic drugs should be applied with caution. The drugs which most frequently induce muscular side effects are steroids, statins, fibrates, antiretrovirals, immunosuppressants, colchicine, amiodarone, and anticancer drugs. Many drugs exhibit their myotoxic potential only in combination with other drugs or premorbid pathologic myogenic conditions.
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PMID:[Medically induced myopathia]. 1657 99

Acrokeratosis paraneoplastica (Bazex syndrome) is characterized by an acral eruption with a psoriasiform appearance, which usually presents simultaneously with an underlying neoplasm. We describe the case of a 64-year-old male who presented with a two-month history of pruritic, flaky, erythematous lesions on the palms, backs of the fingers and toes and pinnae, accompanied by bullous lesions. The patient also reported progressive dysphagia in the last six months, and general wasting with a loss of 15 kg. The digestive endoscopy revealed a squamous cell carcinoma in the proximal esophagus. The histopathological study of the bullous lesions showed the presence of a subepidermal bulla, and direct immunofluorescence revealed granular deposits of IgG, IgA and C3 in the basal membrane of the healthy perilesional skin. These clinical/pathological findings support the existence of an immunological pathogenic mechanism related to this entity.
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PMID:[Acrokeratosis paraneoplastica with bullous lesions associated with esophageal squamous cell carcinoma]. 1679 67

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Incidence (average 1.89 per 100,000/year) and prevalence (average 5.2 per 100,000) are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. The mean age of onset for sporadic ALS is about 60 years. Overall, there is a slight male prevalence (M:F ratio approximately 1.5:1). Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset) and present with symptoms related to focal muscle weakness and wasting, where the symptoms may start either distally or proximally in the upper and lower limbs. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1-2 years. Paralysis is progressive and leads to death due to respiratory failure within 2-3 years for bulbar onset cases and 3-5 years for limb onset ALS cases. Most ALS cases are sporadic but 5-10% of cases are familial, and of these 20% have a mutation of the SOD1 gene and about 2-5% have mutations of the TARDBP (TDP-43) gene. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease) by appropriate investigations. The pathological hallmarks comprise loss of motor neurones with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurones and TDP-43 immunoreactive inclusions in degenerating lower motor neurones. Signs of upper motor neurone and lower motor neurone damage not explained by any other disease process are suggestive of ALS. The management of ALS is supportive, palliative, and multidisciplinary. Non-invasive ventilation prolongs survival and improves quality of life. Riluzole is the only drug that has been shown to extend survival.
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PMID:Amyotrophic lateral sclerosis. 1919 1


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