Doctor insights on:
Mitochondrial Myopathy Treatment
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
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
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
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
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 moreSee 1 more doctor answer
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
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 moreSee 2 more doctor answers
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 moreSee 2 more doctor answers
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
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
Not yet: To date I have not heard of gene therapy applicable to mitochondrial disorders. ...Read more
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 moreSee 1 more doctor answer
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 moreSee 2 more doctor answers
Can lvh, distended atrium and atrial fibrillation be related to mitochondrial disfunction? (also diagnosis with mitochondrial myopathy re motor issues).
Yes: But as part of patho- mechanism or disease process -- and not the cause. ...Read more
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