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Q: Our daughter (Complexes I, III, possibly II and PDH Deficiencies) is almost two years old and she seems to be in a pattern of behavior in which every other day she acts as if she is run by a motor. She is not unhappy during these days...in fact, things are often hysterically funny to her. Her arms and legs move around constantly all day and her breathing rate is in the 60s. She does not want to nap,and if she does, it is short-lived. She has difficulty falling asleep at night and spends the majority of the night flipping around uncontrollably like a fish out of water. These "manic" days are usually followed by a bad day in which she is miserable, has low energy, drools a lot, and has poorer than normal tone. She sticks her tongue out and grinds her jaw as well. I am trying to figure out what these behaviors mean for her and what can be done about them. What is happening in her brain when she has these behaviors? Her neurologist has just prescribed chlonidine to help her sleep at night. She also takes 160 mEq of Sodium Bicarbonate over the course of the day to keep her bicarbonate level in the close-to-normal range. Her lactic acid levels are usually between 5 and 7. Thanks for your help!

A: Behavior issues around age two are going to occur, with or without any underlying medical condition. Kids with metabolic issues can have more behavior problems. In your daughter's case, I would check with your neurologist to make sure it is in fact a behavior issue. For instance, hyperkinetic movements can be due to a movement disorder, common in some of the complex deficiencies or PDH especially if it is causing a Leigh's syndrome (Lesions of the basal ganglia in the brain). Inappropriate laughter can also be a rare symptom of seizures. If her behaviors can not be explained neurologically in those ways, I would continue to see if there are any other things that may trigger her to act differently. For instance, some children need a strict routine, and will behave differently if you take a different road to school, if the food for lunch wasn't what they were expecting, etc. It does not sound like this is due to a medication she is taking, but for others, medications can be the problem. Clonidine is a good medicine for hyperactivity and for sleep, and many neurologists and psychiatrists use it for behavior issues. Hopefully it will help her pace herself, so she is not crashing the next day. Continue to work with your neurologist, and perhaps consult with a child psychiatrist, especially one who specializes in special needs children, if this continues to be problematic.

Answered by: Amy C. Goldstein, MD

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Q: My son's gallbladder will be removed sometime in the next several days. His neurologists wanted to do more muscle biopsies and we've resisted at this time. As the gallbladder is technically a muscle, could this tissue be considered for Mito-testing/Muscle-Biopsy?

A: If the gall bladder is being removed via an open operation - then abdominal rectus muscle can be obtained for mitochondrial evaluation. If the gall bladder operation is a laparoscopic procedure then this can not be done (most cholecystectomies are now performed laparoscopically). The gall bladder itself can not be used for mitochondrial testing.

Answered by: Sumit Parikh, MD

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Q: Our 13 year old son is in his 3rd year of evaluation for both lyme and mito. His lyme titers are always positive, western blot is not (not lyme by CDC standards). His EMG shows mild/moderate muscle and nerve. Sural (leg calf area) nerve and muscle biopsies show extensive damage but are inconclusive. He has peripheral neuropathy/stocking glove, tinitus w/ U/L hearing loss, severe POTS (postural orthostatic tachycardia syndrome), and recent gallbladder disease. He has no noticeable muscle limits - but atrophies very quickly and has cramping/pain with exercise. He has had various symptoms for years but is otherwise thriving. Does this present as any specific Mito diagnosis you can name?

A: To my knowledge, this is not a "classic" mitochondrial syndrome (implying a mitochondrial disease due to a mutation in the mitochondrial DNA). However, his constellation of symptoms: POTS, neuropathy, exercise intolerance and muscle cramping could be due to a mitochondrial cytopathy. If he had developed weight loss and has dysmotility, his symptoms could fit the spectrum of MNGIE syndrome. It is reassuring that he is thriving. Essentially all patients with MNGIE have had severe weight loss/cachexia as part of their symptoms. His symptoms do sound similar to many patients I have seen. I am sure he has received an extensive and expert evaluation. I would want to know the answers to the following questions: - Has he had metabolic testing after an overnight fast and after a high carbohydrate meal (sepcific tests of interest include plasma amino acids, urine organic acids and plasma acylcarnitines) - If a muscle biopsy was done was it done on a fresh specimen? - Has he seen a physician specializing in dysautonomia? - Has he tried DDAVP and/or midodrine for his POTS? - Has he tried mitochondrial medications for 6 months to see if there is any improvement? - Has he tried creatine for his muscle cramps and muscle fatigue? All of these are not automatic recommendations, but should be considered as part of his evaluation.

Answered by: Sumit Parikh, MD

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Q: Our 13 yr. old son, presumed mito, has had significant cognitive trouble over the past few years, and tested recently in the mild MR parameters. This has been a progressive difficulty, and frightens us that if we don't turn it around, we don't know how far the cognitive dysfunction will progress. He uses O2, and also bi-pap to blow off CO2 retention. We want to aggresively seek out the problem and solutions. Our questions are: what suggestions do you have as far as testing that should be done, and is it just inevitable to see progressive cognitive impairment in mito kids? Would it help to aggressively seek out a specific type of mito disorder?

A: Thank you for your question. I am sorry to hear that your son is having cognitive issues. Cognitive decline can be a feature of mitochondrial disorders as well as result from a variety of other causes. Because I don't know your son's history, nor do I know which testing was done and whether it was performed during optimal conditions and/or whether you believe it was a true representation of your son's abilities, I cannot answer except in a general manner. Cognitive decline in neurologic disorders may be static (unchanging) or progressive (getting worse with time) or waxing and waning (gets worse with an episode of illness or event and improves during recovery either to baseline or below baseline). In terms of reversibility, it is important to rule out conditions which may cause or look like cognitive decline, but may be potentially treatable. This would include, for example epilepsy or seizure disorders, medication effects, or the presence of other illnesses. Either clinically evident or subclinical seizures may present with apparent cognitive decline and may be improved with medications in some cases. Therefore, if there is concern that your son could be having seizures (changes in behavior, staring, shaking spells, etc. ) an EEG can be requested. You mentioned that your son is on CPAP and has a tendency for CO2 retention. Hypoxia (low oxygen and high CO2) can cause cognitive slowing, therefore it would be important for your son's pulmonologist to ensure that his oxygen status is adequate. Medications can have cognitive side effects. If your son is taking any medications, you should review the list with your son's physician to determine if medication side effects may be an issue. Chronic diseases (other than mito) may lead to secondary cognitive decline due to toxins such as liver or kidney disease. Endocrine disorders can also potentially cause cognitive problems (thyroid, diabetes, etc.) MRI imaging can give a picture of the degree of anatomic injury to the brain and whether it appears fixed or potentially reversible; however, a completely normal scan does not necessarily denote normal brain function. Lastly, the choice of cognitive test can be important in giving a clear picture of his true abilities. For example in a nonverbal child, use of a test that is heavily language based (as are most IQ tests) would underestimate abilities and IQ and may not be appropriate.

Answered by: Andrea Gropman, MD, FAAP

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Q: Is there some place that would be beneficial for me to move to where my mito daughter would feel better: weather, humidity, doctors, hospitals, relief of symptoms and pain?

A: Your question is difficult to answer as there is not very much information concerning your daughter. I have taken care of a few patients who have moved to help their symptoms (but this is probably true with many medical conditions, not just mitochondrial disease). One patient who did not do well in the heat and humidity of the southern gulf coast decided to move to the Northwest where it is cooler and less humid. He thought that this helped him feel better. Although subjectively he felt better and could be more active, objectively it was not possible to quantify whether this helped his disease. I have taken care of another family that did the opposite and moved from the Northwest to the Southwest to be where it is warmer. All things being considered, moving to where there is a person who understands mitochondrial disease would be a plus. But often, you might find a person who is willing to work with a mitochondrial expert. This might allow you to move and only cause maybe a couple of trips to the mitochondrial expert at a distant city each year.

Answered by: Russell Saneto, DO, PhD

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Q: If I understand correctly, DNA mutations exist in heteroplasmy and usually are at 50% abnormal in a tissue before you can see any clinical effects. My 3 yr. old displays no symptoms, but my second son (17 mo) has mito (poor GI, myopathy, delayed motor). Does this mean that my other son should be tested? Could he be at 20% abnormal while my other is obviously over 50%? I've seen where kids start displaying symptoms at 11, so I'm assuming this could happen to my "well" child. Please correct me if I'm wrong. Another question of mine concerns the DNA's repair ability. I read that we should be careful when it comes to physiological stressors. My little one wants to play outside every second of the day, but he sweats like crazy after 5 minutes. Could episodes like this permanently damage his cells? How careful should I be, and would a cooling vest help?

A: Mutations in the DNA chromosome are most often heteroplasmic and the percentage of abnormal chromosomes usually varies from tissue to tissue and can change with time. This also varies significantly among family members. The exact percentage of abnormal chromosomes needed to cause tissue malfunction (the threshold level) is difficult to determine, but is probably closer to 75-90%. Remember that since heteroplasmy varies in different tissues, a 50% mutation rate determined in blood or skin (the most frequent tissues tested) doesn’t necessarily reflect muscle or brain levels. Remember that we inherit all of our mitochondria from our mothers, and the presence of a mitochondrial chromosome mutation in one child makes the presence of the same mutation in the mother and other children likely. If both are asymptomatic, the heteroplasmy may be low and thus difficult to demonstrate. In rare cases, a truly new mitochondrial chromosome mutation is found that is not present in other family members. Also remember that only 5-10% of respiratory chain defects are due to mitochondrial mutations. The rest are caused by mutations in the nuclear chromosomes and these are not subject to heteroplasmy. You should review the precise genetic mutation identified in your family with your geneticist and decide on testing for additional family members based on that information. Sweating in your child who has a mito disease is not dangerous per se and won’t damage his cells. The major concern is for dehydration if he has significant water loss due to his sweating, and salt imbalances in his blood if his fluids aren’t correctly replaced. To avoid this, keep him well hydrated while playing using a sports drink containing minerals such as Gatorade. Pedialyte would also be acceptable. A cooling vest might be helpful if he is too uncomfortable to play or can’t regulate his body temperature when he does play but these can be cumbersome.

Answered by: Gerard Vockley, MD, PhD

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Q: I have been diagnosed with Mitochondrial Myopathy (adult onset), possible metabolic involvement. I am still waiting for results of my 2nd biopsy for a more definitive diagnosis. I do know that my Citrate synthase activity is low, 45, and my Carnitine Palmitory transferase Tissue was low, 34.4. I was sent to a memory clinic because my short term memory has diminished. I have trouble with word recognition, ie. inserting the wrong word while speaking and just plain forgetting a word. I may for example say mentor and mean to say medium. Sometimes the 1st letter is correct and sometimes the words are completely way off. I was sent to a memory clinic and given a battery of tests. My MRI and lumbar puncture were both negative, so why am I losing my memory? Is it from fatigue from the disease or is this just part of the progression of the disease. A doctor prescribed ARICEPT, thinking it could possibly help. Have you prescribed this before and if so has it been beneficial for your patients? I am nearly 45 years old, but feel I have the memory of a 90 year old. Any suggestions or information would be greatly appreciated.

A: I am sorry to hear of your problems. I guess the first question to ask: is what were the results of your neuropsychological testing? It would also be nice to verify what type of mitochondrial disease you might have. Since this remains unknown at present, I will assume that there has been a confirmed diagnosis of mitochondrial disease. Abnormal mitochondrial function has been implicated in some patients with Alzheimer disease. However, the direct causality of mitochondrial disease and Alzheimer disease is only implied and has not been firmly proven. Our unpublished work with children and a few adults has indicated a non-verbal language and memory problem in a wide variety of patients and types of mitochondrial diseases. We have not found a rapidly progressive memory loss in any of our patients, but again they are mostly children. Your problem sounds like (am I correct?) has been one of memory regression? How long has this been going on? There are a variety of disorders that can affect memory. Alzheimer disease is only one. The finding of normal MRI scan and CSF results is reassuring that major causes of memory loss such as tumors, hydrocephalus, cerebrovascular disease, or subdural hemorrhage are not occurring. Your age is a little early for Alzheimer disease unless you have the presenilin 1 gene on chromosome 14. Neurologists will use Aricept to delay the memory loss in Alzheimer disease. Studies have shown that it does help delay entry into assisted living. Whether it also helps memory in other etiologies of memory loss is not clear. This would be especially true in mitochondrial disease induced memory loss (which has not been firmly proven). I am sorry that I am not able to give you a better answer.

Answered by: Russell Saneto, DO, PhD

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Q: My daughter is 24 yrs old and was diagnosed with CPEO & KSS 11 years ago. The tremors are her biggest problem currently, especially in her hands. Are there any medications to help this? All her EKGs have been normal thus far, no heart block detected.

A: It is difficult to answer your question without more information about your daughter's tremor. There are many causes and types of tremors. Since your daughter has KSS, it is likely that she has cerebellar ataxia and therefore, she may have a cerebellar tremor. Other causes of tremor include medications, enhanced physiological tremor, Parkinson disease, and essential tremor. Your daughter should be evaluated by a neurologist with expertise in movement disorders to define her tremor before initiating potential treatments. Medications used to treat tremors include propanolol (e.g. Inderal) and pyrimidone.

Answered by: Michio Hirano, MD

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Q: My 9 year old daughter was diagnosed with Leigh syndrome at the age of two. Now her local neurologist thinks she has NARP because she is doing so well. We just want to know what she has, Leigh syndrome or NARP? She has the 8993 t-c mitochondrial DNA mutation with 87% mutant mitochondria tested in blood. When she was diagnosed with Leigh syndrome, basal ganglia damage was seen on MRI's and CT scans. Now she is a typical 9 year old with some fine and gross motor delays. I would greatly appreciate your thoughts on this. Thank you

A: This depends on who is using the words. The reality is that she has the T8993C mutation. This can sometimes but not always cause Leigh disease if there is a high percentage mutant DNA in brain, and NARP ( neurogenic ataxia and RP) if lower- to no symptoms if even lower, so it really is just a matter of semantics and which tissues are more affected. Leigh disease is often the label given if there is neurological disease affecting the basal ganglia and brainstem due to a mitochondrial condition but clearly not all children with this follow the clinical picture one reads about with chronic progression/deterioration. I am pleased to hear how well your daughter is. Some people regard the T-C mutation the same as T to G at 8993 but clearly it is milder and has a better outcome even at 87% mutation. There is a case report of a similar child due out soon in the literature.

Answered by: Annette Feigenbaum, M.D., FRCP

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Q: I had a muscle biopsy that showed a profound deficiency of Succinate-cytochrome C reductase. I had a normal succinate dehydrogenase. I have read several articles that say that succinate-cytochrome C reductase is a defect of complex II and others that say it is a defect of complex III. Which is correct and does the normal sucinate dehydrogenase influence this? My specific complex III was not tested.

A: That question sounds like it should be straight forward, but is a little tricky to answer. The Succinate-cytochrome C reductase assay is intended to be a way to measure the activity of both complex II and complex III at the same time. It is therefore also known as Complex II+III and its deficiency can be caused in four ways: (1) Deficient succinate dehydrogenase (Complex II), (2) deficient Ubiquinol cytochrome c oxidoreductase (Complex III), (3) deficient coenzyme Q (ubiquinone or ubiquinol), or (4) artefactual loss due to problems with processing or storage of the muscle biopsy. The first explanation is very unlikely if the lab has found normal succinate dehydrogenase. In making that conclusion I am assuming this was measured in a similar way using a spectrophotometer, rather than relying on just "SDH staining" of muscle biopsy sections. Complex III deficiency is a possible explanation but the succinate-cytochrome C reductase activity is much more dependent on Complex II activity and less sensitive to Complex III. It would need to be a very marked Complex III defect to cause profound deficiency of succinate-cytochrome C reductase. Personally I think it is necessary to demonstrate deficient Complex III activity directly to be sure that it is truly deficient. Coenzyme Q deficiency is a possibility since the succinate-cytochrome C reductase relies on the coenzyme Q already present in the muscle biopsy to link Complex II and Complex III. If any of the muscle biopsy is left over and has been stored appropriately, then it should be possible for this to be measured directly. The final possible explanation is one I am always wary about. My experience is that the Complex II+III assay is not as robust as the assays for individual complexes, at least in frozen samples. If the lab is confident that the sample processing and storage (if done on a frozen rather than fresh biopsy) were optimal, then this shouldn't be a problem. Unless this is absolutely clear I am always a little concerned about the certainty of a diagnosis of succinate-cytochrome C reductase deficiency. So if possible, I would suggest you see whether Complex III and coenzyme Q can be measured in the original muscle biopsy. That may help to clarify the diagnosis.

Answered by: David R. Thorburn, PhD

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Q: Can a person diagnosed with mitochondrial disease also have multiple sclerosis?

A: Yes, patients with Leber's Hereditary Optic Neuropathy (LHON) can have a disease clinically indistinguishable from multiple sclerosis. Individuals with confirmed mutation in 11778 of the mitochondrial DNA, especially females, can have symptoms and signs of demyelinating disease combined with nonremitting visual loss typical of LHON. Cerebrospinal fluid and MR Neuroimaging findings are characteristic of multiple sclerosis. Does this mean that patients with LHON have an increased chance of developing multiple sclerosis? The answer is probably no. When closely evaluated, the mutations associated with LHON are not overrepresented among multiple sclerosis patients. However, among those with early presentation of optic neuritis of multiple sclerosis, the primary LHON mutations are more frequently found. What is thought is that an underlying LHON mutation may worsen the prognosis of optic neuritis in patients with multiple sclerosis.

Answered by: Russell Saneto, DO, PhD

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Q: My son is 18 and recently diagnosed with mito disease complex 3 deficiency. It affects his muscle [parkinsonism] and brain [encephelopathy]. He has had just in the last weeks several behavior outbursts where he can't be controlled. It comes on suddenly; he gets agitated and hits, mostly in the car. Police and ambulance can calm him down, but it is getting out of hand. He looks to me, as if he loses it. It has to go through his brain and then he breaks down and cries. He will apologize, but looks like he can't recall the incident. He is totally normal afterwards, clear speech, pleasant and very hungry. Any help? The CLE clinic just started him, besides vitamins on Seroquel 25 mg. Any help is appreciated, I can't live on the edge any more.

A: I have heard many mothers of mito patients tell me similar stories during clinic visits in which there are sudden and severe outbursts of anger. There does not appear to be a single cause or solution. Anger management is a difficult feat in many youths that do not suffer from any disease, and the presence of cognitive deficits can complicate growing up even further because of difficulty in understanding situations, communicating one's wants, and dealing with the burden of illness. If the outburst appear as a result of frustration (not getting ones way, etc.) then behavioral approaches are generally indicated. In my experience in some mito patients with complicated migraine-related disease, pain (perhaps not well understood or articulated) and possibly migraine-related decreased blood flow to certain brain regions, can trigger behavioral outbursts. In these cases, the behavior is sudden, unexpected, and not readily attributed to frustration. I have seen cases in which the behaviors resolved on treatment with an anti-migraine medication (amitriptyline in particular), returned when the drug was held, and resolved again when re-instated. Although rare, seizures might also be considered if the behavior is sudden and unexpected, and a video-EEG might be indicated.

Answered by: Richard G. Boles, MD

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Q: What is the difference between the brand name Carnitor and its generic name? The pharmacist said there is no difference. But if you have kids with Carnitine Deficiency plus a Mitochondrial Disorder, you don’t want to play with your children's lives.

A: Brand name Carnitor is licensed by a company called Sigma-Tau. However, both the brand name Carnitor and generic versions of L-carnitine are manufactured by a company called Hi Tech Phamacal and are identical, the same product. Over-the-counter non-prescription carnitine supplements are not made by Hi Tech and we have no reliable data on their pharmacokinetic/dynamic properties.

Answered by: Sumit Parikh, MD

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Q: My son was suspected of having a mito disease and now I am wondering if my mom has been showing "soft signs" of a mito disease. She has suffered from depression and anxiety for many years and it seems to be getting worse as she gets older. She has been on over 10 different anti-depressants and they seem to work for a brief while and then the symptoms come back. Is it possible for CoQ10 to help with depression/anxiety? Also, if she takes the CoQ10 and it helps, is that indicative that she may indeed have a mito disease?

A: If you suspect your mother has mitochondrial disease it is important that she is investigated properly. Treatment with CoQ may just be effective as a placebo - so does not really help.

Answered by: Douglass M. Turnbull, MD, PhD

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Q: My son has been diagnosed with Kearn-Sayre disease. He is 21 years old and is legally blind, has diabetes and CPEO. In February this year he had a kidney biopsy because of increased protein in his urine. He also had a Urethroplasty done several years ago due to a urethral stricture and kidney infection. On Thursday evening of this week he had a very sudden headache and it happened again on Friday evening immediately after urinating. The headaches come on VERY suddenly and are excruciating. Friday evening I took him to the ER where they did a CT scan of his head and some blood work. The CT scan appeared normal - I don't have the results of the blood work yet. He has had 3 more episodes of these headaches since Friday evening and always immediately after urinating. When he got the ER on Friday his blood pressure was 187/122. I have been monitoring his BP since then about every 4 hours during the day. Each time he has these headaches his blood pressure has been 162/104, 181/101, 191/124 respectively. HIs pressure when he was not having the headaches was 137/72 and 141/81. It appears that urinating is causing his BP to rise VERY quickly and I'm guessing that in turn is causing the headaches. The ER doctor suggested giving him 600-800 mg of Ibuprofen if this happens again. I've been doing that but of course he doesn't take the Ibuprofen unless he has one of these headaches. What is strange is that if he stands to urinate - he doesn't appear to have the problem. Most often though, because of his vision loss he sits to urinate and that appears to be when the problem occurs. After typing all this out I am guessing that this problem may very well have to do with his previous urethral stricture problems (maybe a recurrence) but I would sure appreciate your advice. Thank you!

A: Your son's problem - hypertension when voiding - is a form of "reflex" hypertension. This is a problem that can occur due to dysautonomia or an abnormal baro-recepter reflex from either primary mitochondrial disease or long-standing diabetes. The headache is likely due to the sudden hypertension. If it is okay with his treating physicians, he needs to see a cardiologist and potentially obtain a tilt table test. His hypertension may need medication - even though it is periodic in nature. Until then I would continue to monitor his blood pressure whenever he has a similar headache - and document the circumstances around the event - as you have already been doing.

Answered by: Sumit Parikh, MD

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Q: Have you ever heard of severe secretory diarrhea that comes on when an illness strikes (even something like a bad cold) as being part of a mitochondrial disease? I've heard that acidophilus can help with regular diarrhea. Has there been anyone with secretory diarrhea that's ever benefitted from it?

A: Gastrointestinal problems are common in patients with mitochondrial disease. In my patient population, constipation is a more common finding than diarrhea. In the patients with diarrhea, most have episodic diarrhea that we haven’t found the etiology other than their mitochondria disease. We usually try increasing the frequency and altering the content of meals, as well as good hydration. The diarrhea is self-limiting in most cases. I have not seen diarrhea limited to only illness in my patient population. Many of my patients have used acidophilus, some it has helped and others it has not. So, it is difficult to say if acidophilus should be used or not for every mitochondrial patient. I am sorry that I could not be more definitive.

Answered by: Russell Saneto, DO, PhD

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Q: I am trying to gather any information I can to help my PCP and Mito Doctor help me with a OBGYN question. I am a mito adult, 52 yrs old. I have been perimenopausal 5 + years and now at the point where I am having hot flashes every day and all night long. This condition has caused me to be 75% more ill. I know my body can not regulate temperature anyway so this condition is really making me ill. In 2002 I had a fresh muscle biopsy that showed I have complex 1 and 4 and partial 2. I am also post stroke 6 yrs. I was told I had Mito and that is what caused the stroke. I can not take hormone replacement because my mother is a breast cancer survivor. I am not able to sleep; I do not eat solid food as I can not pass it. I drink 6 cans of Ensure+Protein a day. I have no energy at all. I also have autonomic nerve insufficiency. Do you have any ideas to help my doctors help me?

A: In general, postmenopausal women with hot flushes should first have their thyroid function tested to make sure that hyperthyroidism is not present since hyperthyroidism can cause "hot flush"-like symptoms or worsen underlying hot flushes. If your thyroid function is normal and you cannot take estrogen, medications such as Effexor and serotonin reuptake inhibitors have been shown to significantly improve symptoms (hot flushes and night sweats) in many postmenopausal women. Before beginning any of these medications, I would definitely check with your mitochondrial specialist and/or PCP to make sure that you have no contraindications to taking these in your individual case and that there are no significant reported reactions with other medications which you are currently taking.

Answered by: Yialamas, Maria A.,M.D.

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Q: Can obesity sometimes be associated with certain mitochondrial diseases? The general assumption is that mito patients will be average or under-weight. But that doesn't always seem to be the case. What mito-related factors might cause obesity?

A: Most patients with mito disease tend to be underweight rather than obese. Indeed, one of the most common symptoms in children diagnosed with mito disease is "failure to thrive" when the child is not putting on weight at the expected rate. It is easy to imagine that if our cells can't generate enough energy then we will struggle to grow at the normal rate. Inefficient mitochondria can also "waste" energy as heat rather than converting it into the ATP used by all our cells. It may sound counter-intuitive but an inefficient metabolism that wastes energy in this way promotes weight loss rather than weight gain. Mito diseases and regulation of body weight are both very complex topics, and it is certainly possible for patients with mito disease to become obese. One often hears that body weight is determined by energy balance, which is basically how many calories we consume (energy intake) and how many we burn (energy expenditure). Energy expenditure is not just about how much we exercise, but is influenced by a range of factors. The basal metabolic rate varies between individuals and even healthy people appear to differ in how efficiently their mitochondria burn fuels such as fats, sugars and proteins. Mito disease can impact directly on this efficiency of fuel conversion and can also act indirectly, by affecting the regions in our brains controlling appetite and by influencing hormone levels, such as insulin secretion, and responses to hormones, such as insulin resistance. Many patients with mito disease have trouble doing much exercise. Some patients, for example with complex I deficiency, are put on high-fat diets. So whether a mito patient will be skinny, average weight or obese depends on the specific type of mito disease they have plus their energy intake and expenditure. Ideally, any concerns about obesity in a patient with mito disease are best discussed with a physician who has expertise in both mito disease and metabolism or endocrinology. Answered by: David Thorburn, PhD There is a theoretical metabolic link between tendency to obesity and mito diseases and indeed yes, some children are obese and /or tall as well rather than the classic description of short with failure to thrive. This is different to the risks of obesity per se causing mitochondrial dysfunction as well described by Dr. Douglas Wallace in his publications the last few years. Calorimetry has been done on a number of mito kids and the results are very variable- some have low BMR ( basal metabolic rate ) and some high. This needs to be correlated to energy expenditure( exercise heart rate, respiratory renal status) and caloric intake and could be assessed in detail by a qualified dietitian. Once hormonal issues e.g thyroid have been excluded, it needs to be done on a case by case basis.

Answered by: Annette Feigenbaum, M.D., FRCP

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Q: My 7 year old son became sick about 5 months ago. Prior to that he was a healthy active boy. It all began with drooping eyelids and then fatigue, a gait. They did spinal taps, IVIG, blood and urine work, MRI and nothing showed. They then did a muscle and nerve biopsy and he has not walked since. The nerve biopsy showed the myelin sheath of the nerve was being attack by his immune system, and that was it. A few weeks later he began tremors in his arms with eventual partial paralysis. We returned to the hospital with all the tests done again. Still nothing shows. They have thought it was so many things but now sent blood to be tested for a mito disease. His mind is great, remembers everything, still reads. We sought a second opinion which is still pending but he said that a red flag was raised with mito because his intellectual ability was so good. What could have he meant from this? Anyhow, other docs said he was dying about 3 weeks ago and he looked as though he was going to; it got really bad. Now we see every day a little change in him; his legs are stronger, arms are moving better, tremors almost stopped. This is with no meds! Could this possibly still be mito?

A: With this history it is not clear as to what your son has. Common causes of sudden/rapid onset motor weakness include Guillane-Barre syndrome (Acute Inflammatory Demyelinating Polyneuropathy or GBS) and myasthenia gravis. GBS is an immune system misdirected attack of the myelin sheaths (as the nerve biopsy may have shown) While Guillane Barre can and does get better on its own, recovery can be sped up by giving IVIG. Recovery is usually over months. Patients can become sick enough to need ICU care. The MRI can be normal. The spinal fluid may show abnormalities (elevated protein). Recovery is prolonged and in atypical forms (AMSAN and Miller-Fischer variants) can be over many months, and at times incomplete. There are special antibody tests that sometimes help sort out which type of GBS is affecting the patient though they are not always diagnostic. The EMG test is also helpful. Some infections can mimic GBS, including Lyme disease, West Nile disease, HIV, as can heavy metal poisoning. Myasthenia Gravis is an immune system misdirected attack of the muscle's neurotransmitters functioning. It usually does not improve without medication. The EMG is diagnostic. A pediatric (or adult) neuromuscular specialist is often the individual who can help sort this out. While metabolic and mitochondrial disease can present with an "acute" decompensation of functioning - including muscle functioning - it is usually not because of an immune system attacking the nerve sheaths (myelin). In addition, muscle disuse (from weakness or bedrest) can artifactually affect the appearance and function of mitochondria on muscle biopsy testing. I would want to know if there were other signs in blood/urine/spinal fluid of metabolic disease (this includes mitochondrial disease). With mitochondrial disease we have learned to "never say never," since almost any symptom can be the presenting one. That being said, your son's presentation is far from typical for mitochondrial disease, and I would want to "rule-out" the 1st 2 conditions completely and review the specifics of how and why the diagnosis of mitochondrial disease is being made.

Answered by: Sumit Parikh, MD

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Q: My son is 3 1/2 years old and has Mitochondrial Encephalopathy, Complex I. We are having trouble figuring out what is a seizure and what is not. His EEG is chaotic (that's what the neurologists have called it) and it's really hard to know what's a seizure. He has staring spells that we think might just be resting spells, but more recently we've had what I call lethargic spells, his eyes roll in the back of his head and he is just not with us. Our neurologist told us to use tylenol and see if that helps, and believe it or not, it did. She was thinking that it might be pain related, but we do not know the cause of his pain because he cannot tell us. Most recently, he got angry for the first time in his life. He is always happy, and he just turned red and grunted and threw his arms up in the air, which again we are not sure if it is a seizure. We have never had to deal with him being in pain before now and I'm wondering if this could be a progression of the disease and we may not be able to ever find the cause of the pain. His hips are out of socket by 50% on one side and 25% on the other, but the Orthopaedic doctor said it's not enough to cause him pain.

A: I am sorry to hear about your son. Sometimes defining what is a seizure versus what is a behavioral event can be very difficult. Many times staring episodes or periods of unresponsiveness can be a seizure(either generalized or focal), but sometimes staring can just be a behavior. One can see other types of behaviors that can look like seizures as well. One of the things about seizures is that for a particular patient, they are stereotypic meaning that they occur over and over in the same way. There are some tricks that we sometime use to figure if staring events can be seizures. One would be to gently stimulate him with your hand and see if he responds. If he responds then likely staring or loss of responsiveness is not a seizure but a behavior. Similarly, eyes rolling up and becoming lethargic may or may not be a seizure. When we get tired and begin to fall asleep, our eyes roll up (called the Bell's reflex) and we become lethargic-looking. If we are gently stimulated by a touch we arouse and may even jerk awake. When events cannot be accurately determined clinically, we have to use Video-EEG to determine. Although expensive and time consuming, when we need to know it often gives us definitive answers. The Video-EEG is a EEG study with a video camera running in a special unit in the hospital. This allows us to view the seizures by video with the EEG running. There is a correlation with EEG changes suggestive of a seizure event and the Video change in behavior. This way we can tell if the event is actually a cerebral seizure, not just a behavioral event. Pain is difficult to determine as well as frustration in a child that has difficulty in telling you what is going on. Body language can often help as well as the circumstance. These types of behavior usually have some circumstance that can be linked to the event (at least with frustration). As the events become more frequent, you will become more adept at defining what type of event. Remember, seizures reoccur in the same fashion over and over again, while pain and frustration would vary in their presentation. Just as an aside. You might want to think twice about using Tylenol for pain. Tylenol can deplete some of the glutathione in cells. Glutathione is one of the major antioxidants used by our bodies to combat oxidative stress. Since oxidative oxygen radicals (oxidative stress) is increased in complex I disease, you might want to preserve all the glutathione possible.

Answered by: Russell Saneto, DO, PhD

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