Yes, it is a different disease to ME. (PS I know this is off topic, so feel free to move this to a different thread if needed. And sorry that it’s long, I just felt I needed to write some things down).
“Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death.
Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.”
It doesn’t mention fatigue but it is a major symptom as I mentioned before. There are also many other symptoms not mentioned eg respiratory muscle weakness, some people progressively struggle to breathe & need ventilation and some do even die of this.
https://www.ninds.nih.gov/health-information/disorders/mitochondrial-myopathies
It’s difficult to diagnose, and contrary to what was said above in the thread, there most definitely is not “a lot of diagnosis going on”, and nor is it “questioned” by doctors I know. It is actually
very difficult to get diagnosed,
especially in the U.K. By the time patients are diagnosed here, they are very often very unwell - either having ended up in intensive care & nearly died if not once then several times, have had several stroke like episodes, or are starting to lose their eyesight or hearing (or have already lost it), and losing movement from their eyes. Most people suffer a lot for a long time, and go through several doctors until they happen to find a doctor who recognises the symptoms - because not all doctors (or neurologists) recognise the symptoms or put all the different parts together to arrive at a diagnosis. Some people get “lucky” if they find a good doctor earlier on, or have family members already diagnosed so they get tested too. Or if they have a mitochondrial disease that is already a well-defined one, like MELAS or something, so the symptoms are easier to spot.
Also, to even get diagnosed, you need extensive testing including genetic testing which is physically & emotionally draining, and requires ruling out many other conditions. People are diagnosed through a combo of genetic testing/genome sequencing (blood), mtdna genome testing & respiratory chain enzyme tests (muscle biopsy), lumbar puncture, EMG, other blood tests, MRIs depending on your symptoms etc, if a doctor thinks you have the signs & symptoms. All of this is not something that is exactly done lightly. there are 3 mitochondrial units in the U.K. in London, Newcastle & Oxford.
(I think in the US at least, they don’t really tend to wait as much until organ damage or something really bad has happened, even if it’s a complex case & not easy to diagnose. Maybe this might pick up “milder” cases in the US, but it doesn’t necessarily mean they don’t have the disease as they would’ve still had to have had testing & genetic confirmation surely).
Also, again contrary to what was said above, Pw Mitochondrial disease
do feel unwell & do report “crashing” and needing to pace. I’ve seen slides from researchers here in the U.K. which talk about “OT” and “energy management”. They have a specialist physio at the mito service in the U.K. because these patients also have issues with exercise & exertion and need tailored help. There are several examples of patients in the main fb group (U.K., so not exactly easily diagnosed patients) talking about things that
sound like post exertional malaise and fatigability - going for a walk but having to rest the next day and the next, doing physio then having severe weakness and pain the next day and being told by the physio they need to build up much more slowly (sound familiar?), doing physio then “never being the same again”, needing to rest every 30 mins, only doing exertion within their limits, others chiming in and agreeing with this),
just without ever using the words “post exertional malaise”.
there are lots of different types of mitochondrial disease all with varying symptoms, so there may be some people who don’t feel so fatigued & unwell but just have the organ failure, but there may be others who really do have severe fatigue & symptoms too. Maybe in the past the received wisdom was that it only caused organ failures (& blindness & deafness), not any other symptoms, as those were the only ones known about, but there is a lot more knowledge now.
From what I can see the
main and most important difference to ME is because of the organ failures & damage, muscle damage and progressive nature. It’s not the same condition clearly, but there can be some symptom overlap sometimes, although there are also some differences & specific symptoms doctors look for in mitochondrial disease such as the organ involvement.
Sorry for the long post, I wasn’t sure how much to write and am always worried that I am annoying people, or clogging up an ME forum with posts about another condition! but I felt it was important to counter some of the posts here, especially given
how difficult it is
in reality to get diagnosed & given the symptoms people really do report (& which doctors involved with the patients seem to know about). I think it’s also important that researchers are not put off from research if they think it’s relevant & it’s good to learn from conditions that are better studied rather than dismiss them.
PS I think there’s a list of conditions from the ME association for differential diagnosis, but pretty sure more than 50% of the conditions listed are not routinely tested for, before giving a diagnosis of CFS on the NHS.
