نتایج جستجو برای: leigh syndrome
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Mitochondrial disorders are among the most severe metabolic disorders wherein patients suffer from multisystemic phenotypes, often resulting in early death. Clinical, biochemical, and genetic heterogeneity among individuals, together with poor understanding of gene-tophenotype relationships, pose significant diagnostic and therapeutic challenges for clinicians. In light of recent advances in ne...
Leigh syndrome is a mitochondrial disease caused by mutations in different genes, including ATP6A for which no known therapy is available. We report a case of adult-onset Leigh syndrome with response to immunotherapy. A twenty year-old woman with baseline learning difficulties was admitted with progressive behavioral changes, diplopia, headaches, bladder incontinence, and incoordination. Brain ...
Mitochondrial dysfunction mainly affects organs with high metabolic demand, primarily the brain. Epilepsy is a common phenotypic sign of both syndromic and non-syndromic mitochondrial diseases. in diseases poorly treatable often an unfavorable prognostic sign. Patients epilepsy are prescribed various anti-seizure medications. Mitochondriotoxic drugs should be avoided. Descriptions MELAS-syndrom...
Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency". Few psychiatric disorders have been defined that are associated with Leigh syndrome. The objective of this work is to study relations between mitochondrial dysfunction and psychiatric disorders. It was a 20 year old male patient, who received Modopar, for severe extra pyramidal symptoms cau...
Moyamoya disease is a cerebrovasculopathy of unknown etiology during the course of which the main and terminal veins of the internal carotid artery undergo progressive vein occlusion. Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency" characterized by psychomotor retardation, difficulty in eating, seizures, hypotonia, respiratory disorders a...
Leigh syndrome is a subacute necrotising encephalomyopathy frequently ascribed to mitochondrial respiratory chain deficiency. This condition is genetically heterogeneous, as mutations in both mitochondrial (mt) and nuclear genes have been reported. Here, we report the G13513A transition in the ND5 mtDNA gene in three unrelated children with complex I deficiency and a peculiar MRI aspect distinc...
Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Rais...
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