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Doctor insights on: Mitochondrial Myopathy 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

Dr. Richard Zimon
139 doctors shared insights

Myopathy (Definition)

Myopathy is a primary disorder of the muscle. Myopathies can be congenital, acquired (often autoimmune) and part of hereditary syndromes. These are typically diagnosed based on clinical presentation, genetic testing, and muscle biopsy ...Read more


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Is cardiac myopathy curable?

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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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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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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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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Progressive degenerative myopathy, what is this disorder?

Progressive degenerative myopathy, what is this disorder?

Muscle degeneration: There are several types of progressive muscle degeneration. Duchenne muscular dystrophy is one of the better known. Other variants of muscular dystrophy are less severe. Spinal muscular atrophy results from loss of anterior horn cells in the spinal cord that causes progressive degeneration of the involved muscles with weakness. Toxic myopathy can occur including associated with steroid use. ...Read more

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 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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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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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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Any update on treatment for idiopathic inflammatory myopathies?

Idiopathic myopathy.: Idiopathy means not know the cause yet. More and more former idiopathic disorders become well known etiology. The answer is if it is still idiopathic, the treatment should be the same of symptomatic management so far. ...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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I am disabled by a genetic codition called "proximal myotonic myopathy" or "myotonic dystrophy type 2". Any advice for treatment or help?

I am disabled by a genetic codition called "proximal myotonic myopathy" or "myotonic dystrophy type 2". Any advice for treatment or help?

Unsure: Can you be more specific as to what is being adjusted. What kind of spring device and how is it applied and where? ...Read more

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How does stem cell treatment work in muscular dystrophy?

How does stem cell treatment work in muscular dystrophy?

Stem cells: Scientists are investigating whether introducing stem cells which have the potential to turn into many different types of cells into dystrophic muscle could repopulate deteriorating muscle with normal muscle cells and slow the breakdown of abnormal muscle cells. ...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 mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

Duchenne MD: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach ...Read more

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What mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

DMD is caused by: mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier girls can have muscle weakness, including heart. See mda.org & a geneticist. ...Read more

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What type of disease is polymyositis? Autoimmune?

What type of disease is polymyositis? Autoimmune?

Yes it is autoimmune: Autoimmune it is. Drugs to treat it affect the immune system, and dampen an inappropriate immune response to your muscle. ...Read more