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Doctor insights on: Mitochondrial Myopathy Emedicine

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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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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

Dr. Alan Ali Dr. Ali
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Can myasthenia gravis cause myopathy?

Dr. Alan Ali Dr. Ali
1 doctor agreed:
Can myasthenia gravis cause myopathy?

Myasthenia: It is a Neuromuscular disease characterized by muscle weakness & fatigue, mostly from circulating antibodies that block Acetylcholine receptors at neuromuscular junctions. Treatment is with Acetylcholine esterase inhibitors or Immuno suppressants. ...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 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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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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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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Muscular dystrophy and myopathy, are these related?

Muscular dystrophy and myopathy, are these related?

Yes: Muscular dystrophies are a subgroup of myopathies characterized by muscle degeneration and weakness. ...Read more

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Fshd musclar dystrophy any updates?

Fshd musclar dystrophy any updates?

Genetic studies only: You are asking about facial-scapular-humaral dystrophy. This is a very familial form of mild muscular dystrophy that involves the face and shoulders and upper arms and is progressive from adolescence on. There are no definite treatments except exercises and at times tendon-muscle transfers. Advances in the genetic evaluation seem exciting. There are trials of Prednisone such as in duchenne's. ...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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Help me, 59yrf-dercum's disease, lymphedema, ans disorder, heart disease- mi x3, 10+herniated discs, autoimmunity, gastroparesis, duodenitis w nodule?

Help me, 59yrf-dercum's disease, lymphedema, ans disorder, heart disease- mi x3, 10+herniated discs, autoimmunity, gastroparesis, duodenitis w nodule?

Too many issues here: If you do have all these listed problems, you need a good internist to take care of you and guide you further. Health matters get complicated if you truly have more than one or 2 ailments and you need long term care for any such diseases that are chronic in nature. You need a good primary care doctor to guide you for the long term. ...Read more

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Genetic causes- splenomegaly, fatty liver, seizures, fatigue, psychosis and ataxia? Neg. For np a/b/c, lupus, wilson's and ashkenazi diseases

Genetic causes- splenomegaly, fatty liver, seizures, fatigue, psychosis and ataxia?
Neg. For np a/b/c, lupus, wilson's and ashkenazi diseases

This is a lot: I wish my answer was as good as your question. Some of your symptoms could be part of an immunologically mediated illness. These as you know can have a genetic basis. You have looked in some important areas. Your evaluation may be a variety of laboratory studies genetics studies and tissue biopsies to help clarify. ...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

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What is myoshi myopathy?

What is myoshi myopathy?

Muscular dystrophy: Myoshi is a form a muscular dystrophy usually starting in the calf around age 20, making it difficult to walk on toes. Might benefit from physical therapy. ...Read more

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What is Lambert Eaton myesthenic syndrome?

What is Lambert Eaton myesthenic syndrome?

Lambert Eaton: syndrome is an uncommon disorder of neuromuscular junction transmission with the primary clinical manifestation of muscle weakness. Knowledge of subtle clinical features and laboratory abnormalities that accompany LEMS permits the early identification of the disorder. Early recognition is particularly important because of its strong association with small cell lung cancer. ...Read more

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What is myathesis gravis muscle disease?

What is myathesis gravis muscle disease?

Myasthenia Gravis: Myasthenia gravis is an autoimmune disease where our body makes antibodies against the acetylcholine receptor at our nerve endings to muscle, causing weakness and fatigue. The disease usually first affects the muscles that move our eyes and our muscles of facial expression, even affecting swallowing and breathing. http://www.ninds.nih.gov/disorders/myasthenia_gravis/detail_myasthenia_gravis.htm ...Read more

Dr. Jay Park Dr. Park
3 doctors agreed:
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How come duchenne muscular dystrophy considered a genetic disorder?

Dr. Jay Park Dr. Park
3 doctors agreed:

Mutated gene in X : Duchenne muscular dystrophy is caused by an abnormal gene in x chromosome, and is inherited as an x-linked recessive trait. ...Read more

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Are ischemic heart disease and hypertrophic obstructive cardio myopathy related?

Are ischemic heart disease and hypertrophic obstructive cardio myopathy related?

Not really: Ischemic heart disease refers to atherosclerotic disease of thee coronary arteries. Hocm is a disorder of the muscle cells of the heart . There is not a common cause. ...Read more

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Is there research into any genetic, autoimmune or other condition that links nerve sheath disorders (tarlov cysts, nerve sheath tumor) with autoimmune hypophysitis targeting acth cells? Ctla-4 gene?

Is there research into any genetic, autoimmune or other condition that links nerve sheath disorders (tarlov cysts, nerve sheath tumor) with autoimmune hypophysitis targeting acth cells? Ctla-4 gene?

None that I find: I cannot locate any literature on the two conditions being studied simultaneously. Perhaps one of my more research savvy colleagues here will come up with something . Great question by the way. ...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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What is mitochondrial myopathy? What causes it?

What is mitochondrial myopathy? What causes it?

Mitochondrial myo-: pathies are a group of neuromuscular disorders inherited from one's mother. 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. See more on genetics at mda.org/disease/mitochondrial-myopathies/causes-inheritance ...Read more

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What is mitochondrial myopathy? My sister has it.

What is mitochondrial myopathy? My sister has it.

Muscle biopsy proof: Myopathy associated with mitochondrial disease. Maternal genetic transmission Short stature,eye muscle paralysis,hearing loss & cardiac conduction defects.Overlap with other mitochondrial myopathies She shold be under the care of neurologist & physiotherapist. ...Read more

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Could you explain what is mitochondrial myopathy?

Could you explain what is mitochondrial myopathy?

Disease where: The mitochondria in muscles are not functioning properly and cause muscle weakness or atrophy of the muscle. The mitochondria is the "powerhouse" of the cell. When they do not function correctly, the cells loose power and either are not efficient or cause cell death. Theres many different causes of this type of myopathy. See http://mda.Org/disease/mitochondrial-myopathies hope that helps! ...Read more

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What can I do about a mitochondrial myopathy condition?

What can I do about a mitochondrial myopathy condition?

Mitochondrial myo-: pathies are a group of neuromuscular disorders inherited from one's mother. Find out the type & which organs it affects, then obtain information, resources & support from mda.org. Mitochondria are cellular power plants that convert fuel from food into energy molecules, particularly important in nerve & muscle cells. See more on genetics at mda.org/disease/mitochondrial-myopathies/causes-inheritan ...Read more

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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 do you suggest if my sister has mitochondrial myopathy what is that?

What do you suggest if my sister has mitochondrial myopathy what is that?

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 you tell me about professional athletes that have a mitochondrial myopathy disorder?

Can you tell me about professional athletes that have a mitochondrial myopathy disorder?

Mitochondrial myopat: A person with a mitochondral myopathy would not likely made it to the status of a professional athlete - I have not heard of one. ...Read more

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What to do if I have mitochondrial myopathy in my skeletal muscles. could it spread to other places of my body?

What to do if I have mitochondrial myopathy in my skeletal muscles. could it spread to other places of my body?

Which one? : Prognosis depends on which mitochondrial myopathy was diagnosed by Chromosomal Microarray, other genetic test or muscle biopsy, as each may affect different organs, with overlap. If your neurologist told you the type you have, please ask about it specifically. If not, seek referral to a geneticist for diagnostic evaluation. See http://mda.org/disease/mitochondrial-myopathies/overview. ...Read more

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Female 61, ls heart failure, af thus metoprolol, history lifelong mitochondrial myopathy, pe, oa and nafld. Safe to take rosuvastatin for cholesterol?

Female 61, ls heart failure, af thus metoprolol, history lifelong mitochondrial myopathy, pe, oa and nafld. Safe to take rosuvastatin for cholesterol?

Who knows?: You present a unique group of disorders in which statins have never been tested. Individually, none of your disorders, including your liver disease, are contraindications to rosuvastatin. I would start it and check ck, alt and ast (the known toxicities) at 6 weeks and 6 months. ...Read more

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How long can people with mitochondrial myopathies live?

How long can people with mitochondrial myopathies live?

Highly variable: There is a wide range of mitochondrial myopathies, each with its own severity and expected lifespan. Some cause death in infancy, while others have no real impact on lifespan at all. A neurologist and/or geneticist can help you understand the specifics of your particular case. ...Read more

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What to do about myopathy?

What to do about myopathy?

Myopathy = muscle: weakness & wasting from abnormal structure or metabolism of muscle cells. OMIM.org lists 586 genetic defects that cause congenital myopathies. The many disorders that cause acquired myopathies are on clevelandclinicmeded.com/medicalpubs/diseasemanagement/neurology/myopathy/. History, family history, physical & neurological exams, muscle biopsy, genetic & other lab studies are needed for diagnosis. ...Read more

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How do you treat myopathy?

How do you treat  myopathy?

Find the cause: Like any disease, your best chance of relief is to find the cause. Find the cause. In the meantime avoid too much exertion which could further damage diseased muscle fibers. ...Read more

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What percentage of people have myopathy?

What percentage of people have myopathy?

Myopathy = muscle: weakness & wasting from abnormal structure or metabolism of muscle cells. 586 specific genetic defects cause congenital myopathies. Causes of acquired myopathies are on clevelandclinicmeded.com/medicalpubs/diseasemanagement/neurology/myopathy/. If personal & family history, physical & neurological exams, muscle biopsy & molecular genetic studies yield a diagnosis, your ? can be answered. ...Read more

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What is the definition or description of: Myopathy?

What is the definition or description of: Myopathy?

Muscle disorder: 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 and occasionally electrodiagnostic testing. ...Read more

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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

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Cervical myopathy prognosis?

Cervical myopathy prognosis?

Myelopathy?: Cervical myelopathy means the symptoms due to pressure on the spinal cord from stenosis or disc herniations. This can be reversible with intervention such as surgery. However, without treatment is typically does tend to progress with weakness, numbness, etc. ...Read more

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Is myopathy why I have back problems?

Is myopathy why I have back problems?

Unlikely: Myopathy can weaken muscles and result in early back degeneration. This is very unusual, however. At age 44, if you have early back issues already, then this could be the problem unless your activity and job requirements have just accelerated the degeneration in the back. ...Read more