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Doctor insights on: Symptoms Of Mitochondrial Myopathy

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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

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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What are the major symptoms of mitochondrial disorder?

What are the major symptoms of mitochondrial disorder?

Chronic fatigue: Mitochondria are the "engines" of the cell. They develop the energy that enables each of your 70 to 100 trilion cells to function. The symptoms are many, depending on how many mitochondria in each cell are genetically affected. ...Read more

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Any symptoms of tay-sachs disease?

Any symptoms of tay-sachs disease?

Several forms exists: Infantile form: child appear normal until the age of 3-6 mo, when their development slows & muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, seizures, vision&hearing loss, intellectual disabilities&paralysis may appear with abnormal eye exam. ...Read more

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What are the symptoms of duchenne muscular dystrophy?

What are the symptoms of duchenne muscular dystrophy?

Weakness...: ...More prominent in large muscles than in small ones, progressing to inability to stand up without assistance (see http://en.Wikipedia.Org/wiki/gower_maneuver ); muscles are enlarged early on ("pseudohypertrophy) but wither later. ...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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What are the symptoms of neurological chronic Lyme disease?

What are the symptoms of neurological chronic Lyme disease?

Brain Lyme : Neurological involvement by Lyme occurs after a long period of untreated infection and leads to difficulty with walking, thinking, vision and MRI with a spinal tap test to confirm diagnosis ...Read more

Dr. Seth Cook Dr. Cook
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What are hallmark neuro/systemic symptoms of wilsons besides liver dmg?

Dr. Seth Cook Dr. Cook
4 doctors agreed:
What are hallmark neuro/systemic symptoms of wilsons besides liver dmg?

Nonspecific symptoms: Neuropsychiatric manifestations include behavioral changes, psychosis or a Parkinson disease-like syndrome (tremor, slow movement, lack of coordination). Depression or anxiety may occur. The eyes may have Kayser–Fleischer rings. ...Read more

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What arre the symptoms of sarcoidosis?

What arre the symptoms of sarcoidosis?

Variable: They can range from being asymptomatic to cough, bloody cough, headache, GI problems, visual problems, arthritis, the list goe on. ...Read more

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Symptoms of liver disease?

Symptoms of liver disease?

Multiple symptoms: Liver disease has a multitude of symptoms. In the early phases it can be nonspecific like tiredness, lack of appetite ; energy, distaste for cigarettes, yellowish discolouration of eyes ; urine. With increasing loss of liver function, 1) fluid retention (belly/ankle swelling, 2) mental changes(confusion), 3) bleeding from the mouth or rectum, on in the skin. Hope this helps. ...Read more

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What kind of test can diagnose Peripheral neuropathy- Paraneoplastic syndromes of the nervous system?

What kind of test can diagnose Peripheral neuropathy- Paraneoplastic syndromes of the nervous system?

Physical & labs: If physical exam suggests peripheral neuropathy, the workup will include assays for a few of the paraneoplastic autoantibodies known to cause it, and a diligent search for an underlying cancer should be undertaken. This is a difficult workup for physician and patient alike, and I wish you luck. Stay proactive. ...Read more

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Does mitochondrial dysfunction cause some sort of autism spectrum disorder?

Does mitochondrial dysfunction cause some sort of autism spectrum disorder?

Maternally derived: Mutations in mitochondrial dna cause defective energy production impacting cell function in the 65 known mitochondrial disorders.Muscle weakness occurs in all;blindness, & deafness in some. A progressive neurological disorder with developmental regression with or without autistic behaviors occurs in some types. Some organs may be affected & not others. Mother may be unaffected or mildly affected. ...Read more

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What are causes and onsets of symptoms of huntington's disease?

What are causes and onsets of symptoms of huntington's disease?

Movement & Behavior: The cause of huntington's disease is a genetic mutation on chromosome 4. Major symptoms are changes in behavior, e.g., hallucinations, irritability, moodiness and psychosis, and abnormal movements including extra facial and limb movements and loss of coordination, dementia, and eventually impairments of speech and swallowing. More information: huntington's disease society of america: www.Hdsa.Or. ...Read more

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What other diseases/conditions are associated with "COX negative fibers on muscle biopsy" besides mitochondrial diseases?

What other diseases/conditions are associated with "COX negative fibers on muscle biopsy" besides mitochondrial diseases?

Complex issues. Best: look them up yourself. E.g. https://www.google.com/search?q=muscle+biopsy+COX+negative+fibers, https://scholar.google.com/scholar?q=muscle+biopsy+COX+negative+fibers & http://emedicine.medscape.com/article/1847877-overview would be good places to begin. ...Read more

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Which type of neurological disease causes brain deterioration?

Which type of neurological disease causes brain deterioration?

Brain disease: Everything from genetic disorders and trauma to strokes and neurodegenerative diseases. ...Read more

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Are brain damages symptoms of huntington's disease?

Are brain damages symptoms of huntington's disease?

Huntigton's chorea: Huntigton's chorea is a specific disease that happens usually in the 40's secondary to a damage or regression of a specific area of the brain. ...Read more

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Dr. Alan Ali Dr. Ali
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What are presenting symptoms of Huntington disease?

Dr. Alan Ali Dr. Ali
2 doctors agreed:
What are presenting symptoms of Huntington disease?

Huntington: It is a neurodegenerative genetic disorder that affects muscle coordination & leads to cognitive deficits & psychiatric problems. Symptoms become noticeable between ages 35 & 45, & include jerky random uncontrollable movements called chorea, memory problems, mood changes, etc. ...Read more

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How are causes and onsets of symptoms of huntington's disease different from those of pku and tay sacks disease?

How are causes and onsets of symptoms of huntington's disease different from those of pku and tay sacks disease?

Too broad a question: There are all inherited disorders with the common issue of neurologic impairment, hd in adults, pku and ts in children. The neurologic damage in pku can be prevented with diet, but there is no treatment for hd and ts. Tests are available to detect carrier status in all of these. ...Read more

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What are the muscle symptoms of dermatomyositis?

What are the muscle symptoms of dermatomyositis?

See details: This condition is characterized by weakness of the muscles of the upper arm and thigh often associated with pain or tenderness. Dermatomyositis also is characterized by specific types of rashes especially around joints and the eyelids. ...Read more

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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