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Dysarthria

About: Dysarthria is a research topic. Over the lifetime, 2402 publications have been published within this topic receiving 56554 citations.


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Journal ArticleDOI
TL;DR: Quantitative voice and speech analyses are important in assessing RDP and general neurological exams and the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) were used to assess dysarthria, dystonia, and speech/swallowing dysfunction.

1 citations

Journal Article
TL;DR: An unusual case report where isolated cerebellar involvement occurred as the first AIDS defining event in the absence of appreciable immunodeficiency in a patient with previously undiagnosed HIV infection.
Abstract: A 37 year old man presented with progressive dysarthria for 2 weeks. A week later he developed ataxia and bilateral cerebellar signs including intention tremors, dysmetria and dysdiadokokinesia. During evaluation for aetiology of cerebellar dysarthria, MRI brain revealed asymmetric altered signal intensities in bilateral cerebellar hemispheres and right side of pons suggesting demyelinating lesions. ELISA for Human Immune Deficiency virus-1 was positive. We kept a presumptive diagnosis of Progressive Multifocal Leukoencephalopathy (PML) on the basis of clinico-radiological picture. PML is an under investigated and under diagnosed CNS infection seen in HIV patients with advanced disease. We present an unusual case report where isolated cerebellar involvement occurred as the first AIDS defining event in the absence of appreciable immunodeficiency in a patient with previously undiagnosed HIV infection.

1 citations

Journal ArticleDOI
TL;DR: Novel heterozygous MSTO1 variants were discovered in this case, which expands the gene spectrum and clinical phenotype of this type of disease, and provides a new direction for future treatment and research.
Abstract: Misato Mitochondrial Distribution and Morphology Regulator 1 (MSTO1) is a soluble cytoplasmic protein that regulates mitochondrial dynamics by promoting mitochondrial fusion. Variants in the MSTO1 gene cause a rare disease characterized by early-onset myopathy and cerebellar ataxia, with almost 30 cases reported worldwide. Here we report a case of a 3-year-old boy with novel heterozygous variants of the MSTO1 gene (c.1A>G (p.M1?) and c.727G>C(p.Ala243Pro)). Sequencing data and subsequent validation show that the two variants were inherited from the mother and father of the patient (both were heterozygous). The clinical features are infancy-onset mental and motor retardation, language disorder, dysarthria, scoliosis, cerebellar atrophy, tremor, lower-extremity muscle weakness, elevated muscle enzymes, extensive myopathy with chronic atrophy, hyperventilation lungs, and previously unreported hairy back and enlarged gastrocnemius. Finally, novel heterozygous MSTO1 variants were discovered in this case, which expands the gene spectrum and clinical phenotype of this type of disease, and provides a new direction for future treatment and research. Then we summarize the mutational spectrum, pathological, clinical features and imaging of MSTO1 variants in a cohort of reported 31 patients and discuss the pathogenesis of MSTO1 in humans.

1 citations

Journal ArticleDOI
TL;DR: A 52-year-old woman presented with dysarthria and right-sided weakness in her upper and lower extremities prompting thrombolytic therapy with mild resolution of symptoms, revealing a left ventricular myxoma on the chordae tendinae of the posterior medial papillary muscle.
Abstract: A 52-year-old woman presented with dysarthria and right-sided weakness in her upper and lower extremities prompting thrombolytic therapy with mild resolution of symptoms. Further work-up revealed (the source) a left ventricular myxoma on the chordae tendinae of the posterior medial papillary muscle, confirmed with transesophageal echocardiography and pathology. Herein, we present a rare case of embolic stroke from a myxoma originating on the chordae tendinae. To the best of our knowledge, the literature on the location and presentation of this tumor as seen in our patient is sparse in contemporary findings.

1 citations


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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
2023229
2022415
2021164
2020138
2019125
201888