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Doctor insights on: Mitochondrial Myopathies Treatment

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What chromosome causes myofibrillar myopathy?

What chromosome causes myofibrillar myopathy?

Several: Changes in these genes are associated with myofibrillar myopathy. Bag3 cryab des flnc ldb3 myot you would need to check each of these for their chromosome position. ...Read more

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What are mitochondrial diseases?

Energy failure: Mitochondria are the "engines" of the cell. They produce the energy that enables each cell to perform its designated function. Loss of enough cellular energy produces loss of function expressed as symptoms. ...Read more

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Are mitochondrial diseases considered metabolic disorders?

Are mitochondrial diseases considered metabolic disorders?

No: no, mitochondrial diseases related to certain internal cellular issues and their discombobulation's. Metabolic diseases include for the most part diabetes, obesity, Dysmetabolic syndrome, which are a separate type of disease process than internal internal cellular constituents such as mitochondria ...Read more

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What are symptoms of mitochondrial myopathy?

What are  symptoms of mitochondrial myopathy?

Many symptoms: The mm are a group of disorders due to dysfunction of the mitochondria, which are the energy producing parts of the cell. Nerve and muscle cells need a great deal of energy and so are most affected. Symptoms depend on which enzymes / proteins are dysfunctional, but muscle, brain, heart and eye function can be affected. See: http://www.Ninds.Nih.Gov/disorders/mitochondrial_myopathy for more info. ...Read more

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How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

Because it is: No disrespect is intended. Two defective copies of the gene atp7b, one from each carrier parent, renders the person incapable of unloading copper from cells that need to lose it. ...Read more

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Please answer! what population does mitochondrial myopathy affect?

Please answer! what population does mitochondrial myopathy affect?

Mitochondrial myo-: pathies are a group of inheritable neuromuscular disorders. Find out the type & which organs it affects, then obtain information & support from mda.org. Mitochondria are cellular "power plants" that convert fuel from food into energy molecules, particularly important in nerve & muscle cells. http://mda.org/disease/mitochondrial-myopathies/causes-inheritance explains the patterns of inheritance. ...Read more

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Can gene therapy help with mitochondrial disorders?

Can gene therapy help with mitochondrial disorders?

Not yet: To date I have not heard of gene therapy applicable to mitochondrial disorders. ...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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Is cardiac myopathy curable?

See Below: It certainly is treatable with excellent results but not likely to be cured depending on the cause. ...Read more

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Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Perhaps: It is a genetic disorder with the parents acting as carriers. Atcp.Org might be a good starting place to investigate genetic counseling prior to conception and try to evaluate your risk. ...Read more

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Can Parkinson's disease have genetic testing?

Clinical diagnosis: Parkinson disease may have genetic basis, but the diagnosis is usually made based on signs and symptoms. See this site for genetic basis of the disease. http://www.ncbi.nlm.nih.gov/pubmed/15503301. ...Read more

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How should gene therapy treat these two diseases. Cystic fibrosis and parkinson disease?

How should gene therapy treat these two diseases. Cystic fibrosis and parkinson disease?

Correct gene defects: Cystic fibrosis is a genetic disorder where a dysfunctional cftr protein causes problems in various organ systems. By restoring the function of this protein in the involved body systems, it is hoped that normal functionality will be restored & the harmful effects of CF disease will improve. There are still several obstacles before it can be successfully implemented in CF patients everywhere. ...Read more

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What are mitochondrial disorders?

What are mitochondrial disorders?

Energy failure: Mitochondrial diseases result from dysfunctional mitochondria (powerhouses of cells). When they don’t function, the body has energy (atp) deficiency. Thus, symptoms often come from organs with high energy need e.g. Brain (seizures, migraines), heart (weak heart muscle) liver, muscles, hormone system, etc. There is no cure yet for mitochondrial diseases but lot of active research to find a cure. ...Read more

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Can Intravenous Immunoglobulin or IVIG really cure Neuropathy and neuromuscular disorders?

Can Intravenous Immunoglobulin or IVIG really cure Neuropathy and neuromuscular disorders?

IVIG treatment: IVIG is helpful for curing a condition called AIDP, or Guillain Barre syndrome, which is a type of neuropathy. It's cousin, CIDP, is treated by IVIG, but it is not cured. Myasthenia gravis is a condition that causes weakness. It is also treated with IVIG, but it is not cured. Few illnesses can be cured in neurology, but many can be treated. ...Read more

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Which type of doctor Dx's mitochondrial disease? Genetics? Neuro? Is there such thing as a mito specialist? Clinic best known for mito?

Which type of doctor Dx's mitochondrial disease? Genetics? Neuro? Is there such thing as a mito specialist? Clinic best known for mito?

Pediatric geneticist: Mitochondrial diseases produce particular syndromes that would be hereditary through the maternal line. The severity of the symptoms varies even within affected individuals in the same family. Closely looking at metabolic breakdwon products in urine and a muscle biopsy would diagnose nearly all of the cases. ...Read more

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Amanda Xi Dr. Xi
7 doctors agreed:
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How does inheritance of a mitochondrial disease work?

Amanda Xi Dr. Xi
7 doctors agreed:
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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What are common complex III mitochondrial disorders?

What are common complex III mitochondrial disorders?

Most are rare: Mitochondrial complex iii deficiency means defect in the third "complex" (structural unit) of the mitochondrial respiratory chain (chain of protein units that produces energy for our cells). All forms of complex iii deficiencies are rare. United mitochondrial foundation has excellent information on various types of mitochondrial diseases, including complex iii: http://bit.Ly/1meless. ...Read more

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On which chromosome is the genetic disorder myofibrillar myopathy?

On which chromosome is the genetic disorder myofibrillar myopathy?

80% not identified: Here is a good link to get more information about this condition. http://www.ncbi.nlm.nih.gov/books/nbk1499/ they have identified a number of genes that contribute to that condition. If the gene causing mutation has been established then genetic counseling may help with prenatal testing. We have established some of the genes involved but only 20% of cases have a genetic basis identified. ...Read more

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Treatment for chronic demyelinating brain disease?

Treatment for chronic demyelinating brain disease?

Drugs exist: Previous answer on stress reduction which is really important.However, medications exist that can help too. It does depend on which demyelinating problem (ms, cdip), and what type as some treatments are more indicated for certain kinds of ms for example.Many are powerful immune-modulating drugs, and can be by mouth, shot or IV depending. Best to see someone skilled in treatment, such as neurologist. ...Read more