Leigh syndrome has anybody got any imformation regarding this condition? - leigh syndrome more condition_symptoms
a rare disease called Leigh's disease, we need all the information that we that someone can help us get
Thursday, February 4, 2010
Leigh Syndrome More Condition_symptoms Leigh Syndrome Has Anybody Got Any Imformation Regarding This Condition?
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Neurogenic muscular atrophy and retinitis pigmentosa (NARP) and Leigh's disease retinitis pigmentosa, in the presence of neuro-muscular degeneration and Leigh disease (subacute necrotizing encephalopathy and basal ganglia characterized by degeneration ataxia syndrome) is genetically heterogeneous one. Gene mutations can be seen in the mitochondrial genome in the ATP6.
It is an organization in touch with a family that allowed a lot of information about them.
www.cafamily.org
I find this information on Google. If you need help to find sites just contact me via this website and send you some websites.
It is an inherited disease that most children, but in rare cases, young people and adults. In the case of the disease, mutations in mitochondrial DNA or nuclear DNA (genetic factors, and SURF1 assembly COX) cause deterioration of motor skills and eventually death.
Mitochondria are the major organelles in animal cells, providing energy for cell function. In humans, the main function of the potential energy of glucose and fatty acids is converted to adenosine triphosphate to. The energy in ATP is used in almost all metabolic functions of the cell. Mitochondria are also unique in its own kind of DNA, mitochondrial DNA or mtDNA contribute. The information stored in the mitochondrial DNA used in the creation of new mitochondria.
In case of abuse mutations in the mtDNA from the mitochondria no longer does a reallyYou are at risk for various diseases, such as Leigh's disease. Generated in the case of Leigh disease, key cells in the brainstem, mutated mtDNA dysfunctional mitochondria. This leads to a chronic lack of energy in the cells, which affects the central nervous system and inhibits the movement of an individual.
The disease is most for their degradation in the ability of individuals to control their movements known. Other symptoms include loss of appetite, vomiting, irritability, persistent crying (in children) and seizures. With progression of the disease in adults, can the general weakness, kidney failure and heart disease.
It is a rare disease that affects only a small proportion of the population, and date no cure for Leigh's disease. It usually affects children under 2 years, but in rare cases, young people and adults. Today is treated with vitamin B1, or thiamine, but also with the treatment, children rarely live more than two or three years after the outbreak of the disease. InWhen older people, the disease lasts longer, but almost always fatal.
Why not a lazy, search for yourself.
Leigh syndrome: Encyclopedia DisordersLeigh genetic syndrome: Encyclopedia of Genetic Disorders.
www.enotes.com genetic disorders Enc ...
OMIM - Leigh's syndrome; LSMIM # 256,000 · Detailed Description · · · Clinical Molecular Genetics History See Also References · Publications œ • • Creation Date Edit History ...
www.ncbi.nlm.nih.gov / entrez / dispomim.c ...
Here are some pages in Google ... good luck with that!
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