Ask the Mito Doc – January 2023
Q&A: Conserving Your Energy in the New Year
Presenter: Bettemarie Bond, Patient Advocate and Ambassador for Oley, MDA and UMDF
Clinicians: Dr. Zarazuela Zolkipli-Cunningham, MD and Dr. Amy Goldstein, MD from the Children’s Hospital of Philadelphia
Watch the video: https://youtu.be/rNaLfNgdy_o
Q: Our son has an energy metabolism disorder but we don’t know which one. Are there more children with the same complaints: pain in legs, tired, headache, losing weight? He has a feeding tube, still eats something, is growing but has lost 6 kilos in 6 months. When extra tired, he has a lot of pain and sees yellow. Is this a type of metabolic disease?
A: Dr. Amy Goldstein: It could be, the overlap in symptoms in metabolic disorder including Mito makes it hard to know which one without genetic testing. So not give up, keep going to your son’s team to see if he’s had the most updated testing. It can be a relief to finally have an answer.
Q: I am 75 years old and have mitochondrial myopathy. I hurt all the time. What is the best pain med to take when I am really hurting?
A: Dr. Zolkipli Cunningham: Sorry to hear about the pain. This is muscle pain, correct? It would be helpful to first have your physician review your medical care, including nutritional intake and mitochondrial supplements. If your pain is exacerbated by physical exertion, avoid over-exertion. That said, participating in gentle exercise/movement as tolerated is helpful. The response to pain medications for muscle pain varies. I would recommend considering all those mentioned above first.
Q: My daughter just had a full blood panel done including amino acids. Most of it was normal except for Threonine at 668.8 vs 192.6 and serene 339.2 vs 171.9. She has a G tube and primarily gets food that way. Is there some action to be taken with these two results?
A: Dr. Amy Goldstein: These are not concerning and likely dietary. The lab director will usually provide an interpretation which is the most important part. Look for that line which will tell you if there is a specific deficiency or huge elevation that could be problematic; otherwise, the amino acids change based on diet and reflect the breakdown of proteins.
Q: Could using growth hormone in a child with growth hormone deficiency and mito cause a progression or worsening of mito symptoms including a significant reduction in energy and increased fatigue, cognitive and memory issues, attention and focus, weakness and seizures?
A: Dr. Amy Goldstein: This is an excellent question and something that needs to be considered and monitored carefully; if starting growth hormone causes worsening, then it can be stopped; weigh benefits and risks carefully with the endocrinologist treating your child.
Q: My daughter has hyperphagia. She is 7 and weighs 140 lbs. We have tried exercising and some weight loss ideas. We have reduced her food intake as well to help but nothing is working. What are some other ways to help her reduce her weight?
A: Dr. Amy Goldstein: I would see an endocrinologist to make sure she has had workup for all medical issues including hypothyroid, Prader-Willi, etc. and then work with a nutritionist. In general, as pediatricians, we do not recommend children lose weight but rather be allowed to “grow into their weight”.
Q: I am 43 and recently diagnosed. Still waiting to find out which mutations I have. Muscle biopsy showed Type 2 fiber atrophy, denervation, small amount of COX negative fibers, activities for SDH, COX and MAD and fiber type grouping. Electron microscopy showed only mild hydropic change involving the mitochondria. I have been hospitalized three times for lactic acidosis. Is this a typical muscle biopsy finding in mitochondrial disease? Lactate/pyruvate came back high lactic acid and high ratio.
A: Dr. Amy Goldstein: Muscle biopsy results can be very non-specific and not as helpful as we want them to be. I would ask the team if they have sent any other studies on the muscle such as electron transport chain testing, Mito DNA sequencing and deletions, and Mito DNA copy number. We look and interpret all these results together.
Q: I am with adult with mitochondrial myopathy which primarily affects my proximal muscles. What is your suggestion for recovering from flu to encourage muscle recovery and endurance?
A: Dr. Zolkipli Cunningham: Yes, viral infections indeed affect muscle function. Depending on how long it has been since the onset of illness, movement would be a good start – walking around the house, picking up light items. Limit to 5 minutes – more than adequate to start with, gradually stretching for longer period. Remember to keep well hydrated and eat small meals if you lost appetite during the infection. If you develop muscle aches and pains, decrease the time of movement/exercise and then gently/gradually increase over time. It may take several weeks to re-build your endurance.
Q: I have a mtDNA multiple deletions myopathy. My geneticist says he has never had a mito patient with such intense muscle and joint pain. Do multiple deletion myopathies have a known history for having more extreme expressions of symptom or symptoms?
A: Dr. Amy Goldstein: We are studying patients who have multiple mtDNA deletions without a known genetic cause at CHOP. Have you had additional genetic testing? Some genes are known to cause this (such as POLG, DGUOK, RRM2B, etc.) and by itself is not a genetic diagnosis. We do not know the full extent of symptoms that can be seen with multiple deletions since we are still studying these – sometimes these are normal with the aging process. Pain is a common yet under-reported symptom in mito that we as a community are trying to address as well.
Q: Any thoughts on using low-dose naltrexone to assist with fatigue during waking hours? It’s shown to be effective with MS and Lupus patients.
A: Dr. Amy Goldstein: Has not been studied in mito patients specifically but we have had some patients on it from a rehab or pain doctor; we have not seen any contraindications so far.
<Suggestion>: I use a Fold and Go wheelchair that is more easily transportable in a regular car or rental car.
A: Dr Amy Goldstein: Great idea, I found this link: https://www.foldandgowheelchairs.com/?gclid=CjwKCAiA2fmdBhBpEiwA4CcHzR68JcrMPlTFXchLDr2PWjXj44zpNNaliHrIKe5zU0dU8iSG7CYQjhoCIzkQAvD_BwE
Q: Question for Dr. Z-K— Do you have any suggestions for improving low energy that is related to diaphragm weakness— significantly low MIPs and MEPs? Is there anything that can help?
A: Dr. Zolkipli Cunningham: Great question. I am aware of some physical therapists who focus on specific exercises to help train the muscles. Low MIPs and MEPs suggest respiratory muscle weakness. Please discuss with your physician a review of your overall care: optimize nutritional intake to maximize calorie intake (total daily calories and not just protein), mitochondrial supplements, exercise to maintain muscle mass and avoid deconditioning. Ensure you get regular sleep studies.
Q: My question would be are any mito patients using a c-pap machine to help them sleep and is it helping with their energy levels?
A: Dr. Amy Goldstein: Absolutely, best to go to a sleep clinic and get a sleep study to evaluate if this is needed.
Q: Can you comment on mitochondrial cocktails? Where can I find the most updated recommendations? How important is CoQ10? If helpful, how much should be taken for energy?
A: Dr. Amy Goldstein: This is an article published by our group which is very comprehensive: Barcelos I, Shadiack E, Ganetzky RD, Falk MJ. Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines. Curr Opin Pediatr. 2020 Dec;32(6):707-718. doi: 10.1097/MOP.0000000000000954. PMID: 33105273; PMCID: PMC7774245. Not every clinician will recommend these, they have not been studied in a clinical trial so there is no proof, but there is certainly enough evidence that it can be helpful for some.
Q: Agree, w/Dr Goldstein sleep (restorative) is vitally important! I get frustrated w/sleep specialist that only seem to focus on breathing/sleep apnea & seem to do nothing when you tell them you still are experiencing NON-RESTORATIVE sleep.
A: Dr. Amy Goldstein: Yes! Everyone needs to be able to recharge! Besides sleep apnea another common problem is periodic limb movements/restless leg syndrome which are treatable.
Q: Is the exercise recommendations different with patients with MELAS? With brain pain during exercise?
A: Dr Amy Goldstein: Exercise recommendations for mitochondrial disease: In general, exercise is recommended and beneficial in mitochondrial disease. You want to find a good balance of the right amount without causing undue fatigue. In general, if you are sore or overly tired 24-48 hours after doing a lot of activity, it may be that activity was too much. Start exercise at a low intensity and duration then gradually increase intensity and time. Make sure you are well hydrated and not hungry. Avoid exercising on days when you are ill, have a fever, muscle pain, and/or cramps. Both strengthening (resistance) exercise and endurance exercise (aerobic fitness) are beneficial. Alternating strengthening days with endurance days is a nice way to fit both types of exercise into your routine. Strengthening exercises could include some good core exercises using body weight and good form such as partial squats to standing, getting up from the floor from 1/2 kneeling (lunge position) to standing trying to do without use of hands, planks, pushups, etc. Or using light weights under the direction of a physical therapist. Endurance activities can include bike riding, swimming, walking/hiking and horseback riding (also great for core strengthening). Ideally you want to find activities that you enjoy and will motivate you to participate in regularly.