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)

Two cases of botulism occurred in Montreal following the ingestion of commercially canned liver paste. A toxigenic, proteolytic strain of Clostridium botulinum type B was isolated from the paste in which type B toxin was also demonstrated by animal protection tests. One patient died undiagnosed about 45 hours after eating several liver-paste sandwiches. The second developed diplopia, dysphagia, speech difficulty and weakness 18 hours after ingestion of three bites of a sandwich. All symptoms progressed until admission to hospital where he was treated with 160,000 units of divalent botulinum AB antitoxin over a 72-hour period. Recovery was complete. The need for readily available supplies of both diagnostic and therapeutic botulinum antitoxin to meet such an emergency is stressed.
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PMID:HUMAN BOTULISM DUE TO COMMERCIAL PRODUCTS. 1432 38

Dystonias are frequently observed in Parkinson's disease or other parkinsonian syndromes. They can occur during off-periods, either in the morning (early morning dystonia) or during daily off-periods, and during on-periods. Dystonia involves more frequently the upper and lower limbs, the neck or the face. Dystonia can be painful in particular off-period feet dystonia. The mechanisms underlying dystonia are not fully understood, basal ganglia activity and levodopa levels seems to play an important role. There are several medical options to try and improve those dystonias, adjustment of levodopa doses, adding a dopamine agonist drug, anticholinergics, lithium, baclofene or clonazepam. Those options are not always very effective. Botulinum toxin injections are an alternative treatment for focal dystonia. Muscles have to be selected by observation of the dystonia. Deep muscles in particular in the legs can be injected under EMG guidance. Botulinum toxin injections are particularly helpful and safe for lower limb dystonia. They can be used also for other forms of dystonia. Upper limb dystonia can be injected, allowing more comfort and easier hygiene but not necessarily better function, weakness is the main side effect. Cervical dystonia, blepharospam and oromandibular dystonia can be managed the same way as idiopathic dystonia. The dose might be lower since the muscles are usually not as hypertrophic. Side effects are as expected dysphagia and neck weakness in case of cervical dystonia, ptosis, inocclusion and diplopia in case of blepharospasm, jaw opening difficulty with oromandibular dystonia. Basal ganglia surgery can also help dystonia in a selected population of parkinsonian patients.
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PMID:[Parkinsonian dystonia]. 1461 83

The association of myasthenia gravis (MG) and systemic lupus erythematosus (SLE) is a quite rare one. We report here one case and try to discuss the physiopathologic mechanisms and also the clinical, evolutive and therapeutic features of this morbid association. It's the case of a woman of 43 years old followed in our department since 1999. The patient has been treated by corticosteroids (prednisone) with monthly administered cyclophospamide pulses. Nine months lately, she develops a diplopia with a ptosis, a dysphagia and a muscular weakness. The treatment was mainly based on intravenous immunoglobulins. The later evolution was favourable. The coexistence of SLE and MG is not casual. It must be considered in every lupic patient developing neuromuscular troubles.
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PMID:[Association of systemic lupus erythematosis and myasthenia gravis. A new case report]. 1498 33

Paraneoplastic neurologic syndromes are disorders of the nervous system function caused by cancer but not due to metastatic disease, vascular or metabolic deficits, infections, nutritive deficiency, nor side effects of antineoplastic drugs or irradiation. Immunologic factors probably play the crucial role in the pathogenesis of paraneoplastic neurologic syndromes, but nonimmunologic mechanisms that include metabolic abnormalities and competition for substrate are also involved. Paraneoplastic cerebellar degeneration most commonly occurs in the setting of gynecologic cancers, but it accompanies the small-cell lung cancer too. Other tumors are infrequently associated with cerebellar degeneration. Several paraneoplastic antibodies have been identified in patients with paraneoplastic cerebellar degeneration. Their association with particular cancers may help identify an occult lesion. Anti-Yo antibodies are directed against Purkinje cell antigens and occur in patients with cerebellar degeneration who have breast cancer or gynecologic tumors. A target antigen of anti-Yo antibody is CDR2 protein that is normally expressed only in the brain and testis. Patients with paraneoplastic cerebellar degeneration present with dizziness, nausea and vomiting followed by gait instability, diplopia, gait and appendicular ataxia, dysarthria and dysphagia. Therapeutic options include tumor excision, chemotherapy and/or irradiation, and adjuvant therapy with glucocorticoids, immunoglobulins and plasmapheresis. The role of plasmapheresis in the treatment of paraneoplastic cerebellar degeneration is still uncertain. Reports of its efficacy are anecdotal. We present patient with paraneoplastic cerebellar degeneration with positive anti-Yo antibodies and tumor of the ovaries whose neurologic status significantly improved after four daily plasmaphereses, which was accompanied by a fourfold decrease in the anti-Yo antibodies titer. Further investigations are needed to define a protocol for plasmapheresis in the treatment of patients with paraneoplastic syndromes.
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PMID:[Importance of plasmapheresis in the treatment of paraneoplastic cerebellar degeneration]. 1512 96

Foodborne botulism results from the effect of a neurotoxin produced by a sporulated anaerobic bacillus called Clostridium botulinum. The mode of contamination occurs through the consumption of foodstuff, already contaminated by the neurotoxin. Following an incubation period that varies from 2 hours to 8 days, the symptoms start with intestinal problems. Then paralysis of the cranial nerve pairs sets in, classically manifested by diplopia, dysphagia, dysphonia, areactive mydriasis and ptosis. The onset of motor disorders occurs in descending order with possible involvement of the respiratory muscles, hence requiring reanimation measures and sometimes mechanical ventilation. The diagnosis of botulism is clinical. Identification of the botulinum toxin in the blood or faeces of the patients or in the contaminating food stuff confirms the diagnosis.
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PMID:[Botulism, a clinical diagnosis]. 1590 79

We report a sporadic case of a female patient with oculopharyngeal muscular dystrophy (OPMD). Her father died at age 86 and mother at age 74. There was no familial occurrence of the disease. The patient initially developed a nasal voice at age 66. Neurological examinations on admission at age 72 revealed bilateral ptosis, a limitation of ocular movement without diplopia, dysphagia, and proximal muscle weakness. Serum creatine kinase level was slightly increased. Biopsied muscle specimens showed variation in fiber size as well as the occasional presence of rimmed vacuoles. On the basis of these clinical and laboratory findings, we suspected a diagnosis of OPMD, although a family history was absent. To confirm the diagnosis of OPMD, we performed a gene analysis for poly A binding protein, nuclear 1 (PABPN1; PABP2), which revealed a mild expansion of GCG repeat (8 repeats) as a heterozygous state. Clinical features of the patient were consistent with those in a previous literature reporting that patients carrying (GCG)8 repeat as a heterozygous state show a relatively late onset and a mild phenotype. The case of this patient emphasizes the importance of the PABPN1 gene analysis for patients showing muscular weakness involving oculopharyngeal and proximal limb muscles even when a familial occurrence of the disease is not apparent.
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PMID:[A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene]. 1602 69

Chondroid chordoma commonly presents as clival osseous and extradural mass. A 15-year-old boy presented with progressive visual deficit, headaches and diplopia since three years. Computed tomography (CT scan) showed a skull base tumour, but was wrongly reported at the time as chronic sphenoidal sinusitis and nasal polyps. In the past three months, he developed dysphagia, urinary retention and constipation. Terminally, he had weakness of all limbs. Fundoscopy showed optic atrophy. Temporal and spatial variation in symptoms led to a clinical diagnosis of multiple sclerosis with optic neuritis. Partial brain autopsy revealed small gelatinous tumour nodules in the subarachnoid space of middle cranial fossa encasing base of brain like arachnoiditis. Tumour deposits extended down into the spinal cord along the subarachnoid space as far as vision allowed. Histopathology and immunohistochemistry confirmed a diagnosis of chondroid chordoma. Awareness of this rare mode of dissemination will avoid misdiagnosis and delay in treatment.
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PMID:Craniospinal dissemination of clival chondroid chordoma. 1633 98

Spinocerebellar ataxia type 4 (SCA4), also known as 'hereditary ataxia with sensory neuropathy', represents a very rare, progressive and untreatable form of an autosomal dominant inherited cerebellar ataxia (ADCA). Due to a lack of autopsy cases, no neuropathological or clinicopathological studies had yet been performed in SCA4. In the present study, the first available cerebellar and brainstem tissue of a clinically diagnosed and genetically-confirmed German SCA4 patient was pathoanatomically studied using serial thick sections. During this systematic postmortem investigation, along with an obvious demyelinization of cerebellar and brainstem fiber tracts we observed widespread cerebellar and brainstem neurodegeneration with marked neuronal loss in the substantia nigra and ventral tegmental area, central raphe and pontine nuclei, all auditory brainstem nuclei, in the abducens, principal trigeminal, spinal trigeminal, facial, superior vestibular, medial vestibular, interstitial vestibular, dorsal motor vagal, hypoglossal, and prepositus hypoglossal nuclei, as well as in the nucleus raphe interpositus, all dorsal column nuclei, and in the principal and medial subnuclei of the inferior olive. Severe neuronal loss was seen in the Purkinje cell layer of the cerebellum, in the cerebellar fastigial nucleus, in the red, trochlear, lateral vestibular, and lateral reticular nuclei, the reticulotegmental nucleus of the pons, and the nucleus of Roller. In addition, immunocytochemical analysis using the anti-polyglutamine antibody 1C2 failed to detect any polyglutamine-related immunoreactivity in the central nervous regions of this SCA4 patient studied. In view of the known functional role of affected nuclei and related fiber tracts, the present findings not only offer explanations for the well-known disease symptoms of SCA4 patients (i.e. ataxic symptoms, dysarthria and somatosensory deficits), but for the first time help to explain why diplopia, gaze-evoked nystagmus, auditory impairments and pathologically altered brainstem auditory evoked potentials, saccadic smooth pursuits, impaired somatosensory functions in the face, and dysphagia may occur during the course of SCA4. Finally, the results of our immunocytochemical studies support the concept that SCA4 is not a member of the CAG-repeat or polyglutamine diseases.
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PMID:Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration. 1636 39

We report the case of an unusual presentation of myasthenia gravis with tongue atrophy and fasciculation. Myasthenia gravis is an autoimmune condition associated with weakness and fatigability of voluntary muscles. In >50%, the initial symptoms and signs are related to extraocular muscle weakness, such as diplopia or ptosis [Tsung K, Seggev JS. An unusual cause of dysphagia. West J Med 1995; 163: 159-60]. Rarely, it is known to affect bulbar muscles and can lead to dysphagia and respiratory compromise.
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PMID:Myasthenia gravis--a rare presentation with tongue atrophy and fasciculation. 1636 41

A 57-year-old male became aware of a subcutaneous tumor in March 2001. Histopathological examination showed peripheral T-cell lymphoma. He achieved complete remission after chemotherapy. Later the lymphoma relapsed in the subcutaneous lesion and chemotherapy was performed again. In April 2003, he developed diplopia, dysarthria, and dysphagia. Abnormal lymphoid cells were found in the cerebrospinal fluid. An immunophenotypical study disclosed that CD2, CD3, CD5, and CD8 were positive. Rearrangement of TCR was detected by Southern blotting. Cranial magnetic resonance imaging did not detect any intraparenchymal lesions, but thickening of multiple cranial nerves was detected. These nerves were homogeneously enhanced by gadolinium-DTPA. After intrathecal chemotherapy, atypical cells disappeared from the cerebrospinal fluid and thickening of the cranial nerves was resolved. Finally, lymphoma spread to the bone marrow, and the patient died in July 2003.
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PMID:Thickening of multiple cranial nerves in a patient with extranodal peripheral T-cell lymphoma. 1662 41


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