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)

Parkinson's disease, a common neurodegenerative disorder, results in significant morbidity 10 to 15 years after disease onset and increased mortality. Levodopa is the mainstay of therapy and provides benefit for the duration of the illness. However, within 5 years, up to 50% of individuals develop fluctuations, including dyskinesias, wearing off, and "on/off" effects. Optimal management of Parkinson's disease patients requires careful titration of medications, with use of polypharmacy, including levodopa, dopamine agonists, catechol-O-methyltransferase inhibitors, amantadine, and anticholinergics in order to maintain good motor function and quality of life. With advancing disease, problems such as dysphagia, dysarthria, and gait and balance abnormalities occur, which are not responsive to dopaminergic medication. Due to extradopaminergic neuronal system degeneration, autonomic dysfunction can also be prominent. Recognition and management of these problems is helpful in improving quality of life in late-stage disease. In very late stages, dementia may complicate treatment, requiring discontinuation of combination therapy and use of low-dose levodopa with atypical neuroleptics.
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PMID:Parkinson's disease: medical treatment of moderate to advanced disease. 1204 50

Introduction. Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare genetic disease and a form of neurodegeneration with brain iron accumulation (NBIA). It most commonly begins in the first two decades of life but should be considered in the differential diagnosis of patients at any age with an atypical progressive extrapyramidal disorder and cognitive impairment. Few late-adult cases have been reported. Case Report. A 50-year-old woman presented with a history of progressive dysarthria and dysphagia secondary to orolingual dystonia. Initial work-up was normal. There was no family history. Her initial symptoms were followed by the onset of blepharospasm, cervical dystonia, Parkinsonism, and cognitive impairment. Follow-up MRI four years after presentation revealed the diagnostic "eye-of-the-tiger" sign. Genetic testing confirmed a homozygous missense mutation consistent with the diagnosis of PKAN. Conclusion. Although PKAN is a rare genetic disorder most commonly seen in childhood, it should be considered in adult patients with a history of progressive focal dystonia or atypical Parkinsonism. As the radiographic findings are quite characteristic, genetic testing should be performed if the MRI shows evidence of iron accumulation. Optimal treatment strategies are not known, and at the current time therapies should be directed at the specific manifestations of the disease.
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PMID:Late onset atypical pantothenate-kinase-associated neurodegeneration. 2363 10

Optimal treatment of patients with intracranial subocclusive thrombus remains unclear. Such a rare case successfully managed with endovascular mechanical thrombectomy is presented. A 71-year-old man experienced a sudden onset of dysarthria and motor deficits. At the time of admission his National Institutes of Health Stroke Scale (NIHSS) score was 4. DWI demonstrated incomplete infarction within the left lenticulostriate artery (LSA) territory, MRA showed partial flow defect in the distal left M1 segment and non-visualization of the LSA, and ECG revealed atrial fibrillation, thus ischemic stroke caused by cardiogenic embolism was diagnosed. Tissue plasminogen activator was administered, but symptoms progressed and NIHSS score increased up to 8. Diagnostic angiogrpahy confirmed presence of the subocclusive thrombus within the distal left M1 segment and complete occlusion of LSA at its origin. Since conservative therapy was ineffective, mechanical thrombectomy utilizing ADAPT (a direct aspiration first-pass thrombectomy) technique was performed resulting in compete recanalization of the LSA accompanied by the prompt regress of neurological symptoms. Eventally, the patient demonstrated nearly full recovery (modified Rankin Scale score 1). Thus, mechanical thrombectomy should be considered as a reasonable option in cases of acute cerebral stroke caused by subocclusive thrombus and progressive neurological deficits despite standard conservative therapy. J. Med. Invest. 67 : 372-374, August, 2020.
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PMID:Successful Mechanical Thrombectomy for Subocclusive Thrombus at the Origin of Lenticulostriate Artery. 3314 20