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Doctor insights on: Mitochondrial Disease And Speech Delays

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Which is the mitochondrial disease known as l.H.O.N.?

Which is the mitochondrial disease known as l.H.O.N.?

Lebers neuropathy: Lebers hereditary optic neuropathy http://ghr. Nlm. Nih. Gov/condition/leber-hereditary-optic-neuropathy. ...Read more

Dr. Richard Roberts
106 Doctors shared insights

Mitochondrial Disorder (Definition)

Defect. Small organelles in the cells responsible for generation of energy required for metabolism may malfunction due to mutations in the genes. The most common manifestation involves abnormality in the function of the muscles, other systems may be affected depending on ...Read more


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What is the mitochondrial disease known as l.h.o.n.? How is it treated?

What is the mitochondrial disease known as l.h.o.n.? How is it treated?

Hereditary blindness: LHON stands for Leber's hereditary optic neuropathy. It is inherited from mother to child. Usually a young man loses eyesight in the enter of one eye, and shortly after he loses eyesight in other eye. Women are less often affected. Gene mutations that are responsible for this disease is known. There are no curative treatments. If you carry this gene, you should avoid smoking, alcohol certain drugs. ...Read more

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What is the mitochondrial disease known as l.h.o.n.? How is it treated?

What is the mitochondrial disease known as l.h.o.n.? How is it treated?

Progressive vision: Loss occurs as a result of this condition which is the most common known mitochondrial disease. About 45 mutations have been linked to LHON. Although it is the most common, it is nevertheless rare and must be treated at a center with knowledge of and experience with mitochondrial disorders. ...Read more

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Could tumors "trigger" a mitochondrial disease?

Could tumors "trigger" a mitochondrial disease?

Not very likely: Mitochondria are "power-houses"--they generate energy from inside all of your cells, except red blood cells. Thus, these are intracellular structures and diseases often result from mutation/genetic defect, drug, certain infections such as HIV/cytmegalovirus--as these go inside cells. Tumors result from mutation/defective DNAs, so possibly can cause mitochondrial disease, but low chance. ...Read more

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What are some treatments for mitochondrial disease?

What are some treatments for mitochondrial disease?

Avoid toxic foods: Avoid sugars, fried foods, vegatable oils like canola & soy, meats that are cured wth nitrates & nitrites, aspartame, splenda, partially hydrogenated vegetable oils, maragarine, soy based products, sweetened beverages like juice & soda, microwaved foods, artificial colors & flavors. All of these products cause damage to the cells, tissues & organs in your body contributing to various diseases. ...Read more

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What are some of the of non genetic or "acquired" mitochondrial disease?

What are some of the of non genetic or "acquired" mitochondrial disease?

Heavy metals: Lead and mercury toxicity, prolonged immobilization and lack of exercise, etc. - those are forms of secondary mitochondrial disease. ...Read more

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What symptoms would make you think you have to test for mitochondrial disease?

What symptoms would make you think you have to test for mitochondrial disease?

Symptoms: Symptoms can be related to anything. Make a list of your symptoms and take them to see your doctor. ...Read more

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I have been diagnosed with mitochondrial disease and have arthritis. Will marujuana every once in awhile help?

I have been diagnosed with mitochondrial disease and have arthritis. Will marujuana every once in awhile help?

Arthritis maybe: At least as far as pain relief, but mitrochondrial disease might be a problem, since cannabis has been shown to increase mitochondrial dysfunction. I would talk with your metabolic specialist before you try anything. There are better meds/treatments for arthritis than cannabis. ...Read more

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What is (or are) a mitochondrial disease?

Definition of Mito.: Mitochondria are specific organelles within our cells. They are essentially the energy-producing factories of the cells; they produce (among other things) a molecule called atp (adenosine triphosphate), which is the energy currency of the body. There are a few mitochondrial diseases; these diseases specifically affect this very important structure within our cells. ...Read more

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Please help! What is the cause of mitochondrial disease?

Please help! What is the cause of mitochondrial disease?

Genetic change: Mitochondrial diseases can be caused by changes in mitochondrial dna (mtdna), inherited only from mother but most are caused by changes in genes inherited both from mother and father (nuclear genes). It can be inherited in other ways too. More info on the complex inheritance of mitochondrial diseases: http://www. Umdf. Org/site/c.8qkoj0mvf7lug/b.7940911/k.555f/inheritance__genetics. Htm. ...Read more

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What is the mitochondrial disease known as m.n.g.i.e.? How is it treated?

What is the mitochondrial disease known as m.n.g.i.e.? How is it treated?

Mngie: MNGIE is a multi system autosomal recessive disorder characterized by gastrointestinal dysmotility and peripheral nervous system involvement death occurs before 35 years of life. Treatment options include allogeneic hematopoietic stem cell transplantation and carrier erythrocytes entrapped TP therapy. Hope this answers your question. Mitochondrial Neurogatrointestinal Encephalomyopathy ...Read more

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How do doctors diagnose mitochondrial disease?

How do doctors diagnose mitochondrial disease?

Big work up: All suspected patients get blood and urine tests. Then to see how widespread the disease is, ekg, echocardiogram, brain mri, audiology and eye exams are next. Patients with neurologic symptoms need spinal fluid tests, and people with developmental delays get neurogenetic testing and counseling. For more info and to find docs that take care of these diseases, see umdf. Org. Good luck. ...Read more

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Can astigmatism be a symptom of mitochondrial disease?

Can astigmatism be a symptom of mitochondrial disease?

No: Astigmatism has to do with the shape of the eyeball which is heavily influenced by genetics. It is quite different from what happens inside the metabolism of functioning cells. The mitochondria are little work centers that process/make things in response to and in unison with the information provided by the cell nucleus. ...Read more

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Can anyone tell me is treacher collins syndrome a mitochondrial disorder/disease?

No: Tcs is an autosomal dominant disorder. The primary identified mutation is in the tcof1 gene (97%) which is located on chromosome 5q32-q33.1. There are at least 2 other gene defects that are responsible for some cases. Since these defects are in the main dna, it is not mitochondrial in origin. ...Read more

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Mitochondrial disease - why can people who have this, only exercise for only short periods of time?

Mitochondrial disease - why can people who have this, only exercise for only short periods of time?

Energy deficiency: Mitochondria are the batteries of the cell, with about 1000 per cell. They transform chemicals using oxygen (oxidative phosphorylation) to produce high energy phosphates (atp, etc.) that power muscles, heart, and brain. Mt disorders cause eye muscle deviations, low muscle tone, muscle cramping, decreased cardiac performance, and, in severe cases, intellectual disability. ...Read more

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How does inheritance of a mitochondrial disease work?

How does inheritance of a mitochondrial disease work?

Maternal and Regular: A few mitochondrial diseases are passed from the mother to all of her children. This is because certain mitochondrial genes are inherited from the mitochondria in the egg's cytoplasm (outside the "nucleus" that contains the regular genes). Other mitochondrial diseases are inherited the regular way, from the genes in the egg "nucleus" and in the sperm, that code for new mitochondria in the embryo. ...Read more

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Please help! What is the mitochondrial disease known as m.N.G.I.E.?

Please help! What is the mitochondrial disease known as m.N.G.I.E.?

See this site: This should be helpful: http://ghr. Nlm. Nih. Gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease. ...Read more

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What testing should my child undergo for suspected mitochondrial disease?  

What testing should my child undergo for suspected mitochondrial disease?  

Consult a specialist: Mitochondrial diseases are quite complicated and best evaluated at a specialized research center or a university medical center. The united mitochondrial disease foundation website (www. Umdf. Org) lists several types of blood and urine tests, heart echo (ultrasound), brain mri, eye and audiology exams, heart ekg, spinal fluid tests, chromosome tests, muscle biopsy, etc... As possible test choices. ...Read more

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Is mitochondrial disease difficult to diagnose? How is a diagnosis reached?

Is mitochondrial disease difficult to diagnose? How is a diagnosis reached?

Often it is: Mitochondrial diseases can present from any organ system at any age. Diagnosis can be made by specific clinical criteria (symptoms, brain MRI imaging, muscle biopsy, elevated lactate in blood) or, by finding a genetic mutation either in mitochondrial dna or one of the hundreds of other genes that cause mitochondrial disease. Latter is a more accurate diagnosis. ...Read more

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Can you have a vaccine to prevent mitochondrial disease?

Can you have a vaccine to prevent mitochondrial disease?

No: There are no vaccines that actually prevent mitochondrial disease, but the vaccines can prevent infections that can trigger serious flareups of mitochondrial disease. ...Read more

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