Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four patients with tumours involving or compressing the brain stem are described whose initial clinical symptoms of fluctuating paresis of the external ocular muscles and/or the pharyngeal muscles without other neurological deficits led to the primary diagnosis of focal myasthenia. The combination of an unusual clinical pattern, involvement of muscles of only one ocular nerve or severe dysphagia/dysarthria without extension of the myasthenic symptoms, should lead to further investigation to exclude other reasons of a focal myasthenic syndrome such as a brain-stem tumour.
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PMID:Oculo-bulbar myasthenic symptoms as the sole sign of tumour involving or compressing the brain stem. 227 71

Dysarthria, dysphagia and repeated aspiration in a 54-year-old woman diagnosed and treated for myasthenia gravis 7 years earlier were initially thought to represent a late exacerbation of myasthenia. A cervical mass invading the jugular foramen and causing multiple lower cranial nerve palsies was biopsied and found to represent invasive ectopic thymoma.
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PMID:Late pseudo-exacerbation of myasthenia gravis due to ectopic thymoma invading lower cranial nerves. 231 Oct 16

Giant cell arteritis (GCA) is the most common form of systemic vasculitis in adults. Patients usually present with headache and visual symptoms, and have an elevated erythrocyte sedimentation rate. It has been reported that 3-4% of patients with GCA develop ischemic events secondary to vertebral artery stenosis or occlusion. The mainstay of therapy of GCA is high dose steroid and/or methotrexate. A case is described of a patient who initially presented with intermittent double vision, mild headache and unremarkable MRI and MR angiography of the head and neck. The patient was diagnosed and treated for ocular myasthenia. The patient was readmitted 2 months later with imbalance and worsening headache, and workup suggested bilateral cerebellar infarction, complete occlusion of the left vertebral artery and a high grade stenosis of the right vertebral artery. Erythrocyte sedimentation rate and C reactive protein were elevated. Temporal artery biopsy demonstrated changes consistent with GCA. During the course of the treatment with corticosteroids and immunosuppressant, the patient developed dysarthria, left facial droop and left hemiplegia, and was found to have complete occlusion of both vertebral arteries. The patient was emergently taken for revascularization of the occluded segment using angioplasty and stent placement. The patient had significant improvement of neurological symptoms within 3 days after the procedure and continued to improve during hospitalization. Endovascular treatment of vasculitis affecting the intracranial vessels is not yet established. Our experience with successful treatment of complete occlusion of the vertebral artery secondary to GCA using endovascular intracranial angioplasty and stent placement is reported.
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PMID:Angioplasty and stent placement for complete occlusion of the vertebral artery secondary to giant cell arteritis. 2199 Apr 65

Myasthenia gravis (MG) is an immune-mediated disorder characterized by fluctuating fatigue of skeletal muscles, often involving extrinsic ocular or bulbar districts. Myasthenia gravis in the elderly is an under-recognized condition, sometimes confused with cerebrovascular disease. Here we present a case series of myasthenia patients which onset was characterized by sudden dysarthria, clearly raising this diagnostic dilemma. In the workout of sudden onset isolated dysarthria, MG should be always considered. In fact, even if myasthenia is a rare condition, lacunar stroke only with this clinical presentation is also unusual, and significant risks may arise (e.g., unexpected myasthenic crisis).
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PMID:Myasthenia gravis mimicking stroke: a case series with sudden onset dysarthria. 2564 8

Neuromuscular junction disorders in children are either genetic, such as congenital myasthenic syndrome, or autoimmune with circulating antibodies most commonly against acetylcholine receptors. There is limited experience recognizing and treating children with myasthenia associated with muscle-specific tyrosine kinase antibodies. We report a seven-year-old child with intermittent esotropia since age 3 months, and two years of progressive and severe diplopia, dysarthria, dysphagia, and facial weakness. Acetylcholine receptor antibodies and genetic testing for congenital myasthenic syndrome were negative. Muscle specific tyrosine kinase antibodies were significantly elevated. Ophthalmoplegia and bulbar weakness were refractory to treatment with acetylcholinesterase inhibitors, corticosteroids and IVIg but completely resolved following treatment with rituximab. Her neurologic examination remained normal at the most recent follow-up, 15 months after initiation of rituximab. Children with MuSK myasthenia, like adults, can respond to rituximab despite long standing disease and failure to improve on other immunosuppressant medications.
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PMID:Selective response to rituximab in a young child with MuSK-associated myasthenia gravis. 2599 11