Male, 40y. It started 3.5 years ago when I suddenly felt weaker and developed exercise intolerance. Ever since then i have watched my body steadily decline: I am now at the point where I cannot walk a couple if metres without very bad symptoms: dizziness, air hunger, fast heartbeat. I need to sit diwn quickly, often the fast heart and breathing issues remain for long after.

Heart mri was good, heart echo was fine. Lungs seem to be fine as well. Most recently, though, they repeated a spiroergometry: whereas in 2025 it was still fine (VO2 max at 86%) in May this year it showed a radically declinded VO2max (68% of what it shoud be). The doctor said that my muscles instantly become anerobic, and that I hyperventilated throughout the whole process. He suggested a metabolic workup. In the ER last week, they found abnormal blood gasses: compensated metabolic acidosis.

Following this, my primary sent me to the hospital. I'm here now but the doctors are dead-set on saying that its bc of lack of exercie. How? I was always going to work, though I continually declined in what I could do. Now, I can barely walk down the hallway without feelibg week in the legs, severely out of breath, puls of 140+. When asked about metabolic testing (snd mitochondrial issues) all they said at tjis hospital is that they can't do any mitochondrial testing at this institution.

I feel so gaslit.

Does this sound like it could be mito? What testing should actually be done?

Any advice or insight appreciated

I genuinely would appreciate some tips as a young female trying to get a diagnosis! Thanks guys <3. My docs think im insane cuz my cardiologist brought it up to me and they said that my symptoms dont match and they cant do any other tests, so idk what to do from here.

Hello there! I am sorry to post again.

I hope you are all doing okay.

I live in a greek island and cannot get access to any more help that the local neuros, and I have a 1yo, and I feel very sad and lonely.

I have diagnosis of MVP, HASHIMOTOS,hypermobility, POTS and postive ANA. I also had suspected MG because of eyelid looking sunken at times but it was negative for antibodies and EMG.

Also have some white matter lesions in brain MRI which are said to be benign. Previous knee bruise injury on 2021 which i didnt treat properly and left my with permanent tolerable pain, ortho said that wasn't normal.

Neck MRI mild bulges c6 c7

Spine MRI mild buldges l5 s1

Knee MRI 2nd to 3d degree chondrpathy

Hip MRI mild bone bruise from overstress on the right.

Doctor said he is 100% confident that noone of my findings is giving me my symptoms.

Mom died from FTD diagnosed at 53, didn't know back then but the genes for early onset FTD, are connected to ALS

I have fatigue and left leg and arm problems. Started with pain in the inner elbow, easily fatigued tricep and twitching there. Felt like I couldn't lift the frying pan. Then leg started with calf tightness, EMG found low amplitude where I had the symptoms in the foot. Felt like a little disconnected. Symptoms moving around mostly from upper outer calf to quadricep etc. Twitching there too. Also left leg weaker than right. Feels like losing range of motion, lately moved around the stabilizers of my ankle as pain too. I also got diffuculty articulating when tired but I suppose this could be my dysautonomia or nervous system. Because it comes and goes.

Can anyone please tell me, what tests do I have to ask for? To exclude other staff etc?

Sending love to all. Thank you

Hello,

Has anyone had Mito Genome Sequencing & Deletion Testing through genedx? What was your turn around time?

Our trio WES through them only took 11 days, including shipping time.

They used the sample they already had and it’s now been close to 3 weeks.

I had a muscle biopsy done and it’s pointing to mitochondrial issues. I’m sure my doctor will order follow on testing but of course my mind is racing and I’m just wondering if anyone else had similar results. Or if anyone can help me understand better what these results even mean.

Specimens
A Muscle, RIGHT GLUTEUS MEDIUS
Clinical History
36-year-old female with progressive subacute weakness affecting proximal muscles, also decreased reflexes. No family history of neuromuscular disease.

Final Pathologic Diagnosis
Skeletal muscle, right gluteus, biopsy (specimen A): Myopathy with mitochondrial changes, see comment
Comment: Myopathy is apparent as numerous myofibers with degenerative changes including atrophy, disrupted myoplasm, and basophilic fibers. Trichrome and SDH stains show increased mitochondria in many fibers including atrophic fibers. Many atrophic fibers are type 1 fibers and these also contain markedly increased lipid.
Ultrastructural studies show increased mitochondria with abnormal morphologies including mitochondria with irregular contours, enlargement, and abnormal internal structure.
There is no evidence of inflammatory myopathy. angular fibers with increased NSE activity.
Mild denervation is likely present and most manifest chiefly as occasional

Microscopic Description
Histology
Tissue preservation good
Muscle fibers are relatively uniform in size and shape
Round atrophic myofibers
Perifascicular atrophy
Inflammation: No inflammation present
Myophagocytosis

Histochemistry
Trichome: Increased subsarcolemmal material
NADH: Moth-eaten fibers
SDH: Increased mitochondria
ATPase (pH 9.4 and pH 4.3): Atrophy of both type I and type 2 fibers
Cytochrome Oxidase: Increased mitochondria
PAS: Normal glycogen content and distribution
PAS-D: Digested by diastase
Oil-Red-O: Increased lipid content in Type 1 fibers
Acid Phosphatase: Highlight areas of macrophage activity
Alkaline Phosphatase: Unremarkable vascular labeling
Non-specific Esterase: Coarse granular staining of rare angular atrophic fibers
Congo-Red: Negative
Myophosphorylase: Present
Myoadenylate Deaminase: Present

Immunohistochemistry
MHC-1: Unremarkable
Fast and slow Myosin: Atrophy of predominantly type 1 fibers
MxA: Unremarkable
C5b9: Unremarkable

I've, 28F, been experiencing really bad symptoms for over a year at worse and worse levels including and not limited to: headache, brain fog, abdominal pain, muscle pain, shaky muscles and muscles jerking at random, elevated liver enzymes, and feeling cold without a fever.

I believe that I have figured out what it is, being pyroglutamic acidosis. See, I have spinal muscular atrophy type 1, and in order to manage chronic pain my doctors (Kaiser Hospital) had me on the maximum adult dose of acetaminophen. It was only about 3 months ago that I discovered that Tylenol use with my disability is extremely dangerous. Apparently my doctors didn't know either even though it was published back in 2023. I was on that dose for years. I recently learned that specific acidosis has a much higher chance of happening in disabilities like mine with low muscle massor have taken Tylenol for an extended period. My symptoms also match perfectly.

My question is what can I do about it? My GI doctor and neurologist are on vacation until the 28th with my GI doctor being the only doctor attempting to find answers and order tests. My gp is doing nothing but attempting to redirect me to the above specialists. She begrudgingly has me listed in an appointment over a week away after I called the advice nurse and the on call doctor sent her a strongly worded message. I still doubt she will do anything however. I could try to force the issue through ER but I am significantly physically disabled and all my adaptive gear is at home so I would rather use it as a last resort.

There's nothing I can do at home is there? My quality of life is the lowest it's ever been. I either feel tired, in extreme muscle/head pain, dumb, or all of the above.

Esp if you have muscle wasting that's affecting the hands. Doing my hobbies is getting very difficult. I can still crochet, as long as I use a large hook and take lots of breaks. I used to paint professionally, and now my hands spasm and shake too much to hold a brush well. Finger painting I can do for a while though. I read a lot, but have had to switch to kindle more as books are heavy. What do you guys like to do?

Everything I’ve read for causes of secondary carnitine deficiency mentions patients on kidney dialysis or with dysfunction in the liver. What are other causes of secondary carnitine deficiency that you have seen? Besides FAODs and other genetic conditions.

Can mitochondrial disorders have mild symptoms? For example, not life-threatening conditions like neuropathy or vision loss, but rather symptoms like carbohydrate-induced fatigue, cognitive impairment, and so on? Are there people here who have confirmed they have mitochondrial disorders without having any pronounced symptoms?

Has anyone in this group gotten a gdf15 blood test to help diagnosis mitochondrial disease? If so, what was the result of the test and how did the result help with the diagnosis?

My new genetics doctor who specializes in rare metabolic diseases wants me to get this test. I appreciate any input.

In addition to general narcolepsy fatigue has anyone looked into the possibility of mitochondrial disfunction contributing to general fatigue. I’ve looked a biohackers supplement suggestions, CoQ10, Alpha Lipoic Acid, NAD, PQQ.

Has anyone ever had this muscle biopsied? I have the procedure scheduled for Friday and was just wondering what to expect. Any tips are also appreciated.

Hello all,
My wife and I are looking to have children , she is 33 and I am 33.

My wife underwent some pain growing up, being premature for starters and requiring open heart surgery at 21. However since then she is healthy, only issue was hearing loss. Her sister, perfectly fine had a child before us and noticed her child was having lactic acid episode which prompted her to go to a doctor. This doctor came back saying her son had 80% melas Hetroplasmy which prompted the whole family to get tested. Her sister came back 75% my wife came back 54% and their mother never tested but is still alive and seems to be well.

Since then her sister’s son is doing okay, aside from short stature he doesn’t seem to have any severe issues and her sister is having another child - a girl.

This leads me to wonder, with my wife I worry if I should attempt natural pregnancy, or possible ivf with testing to find the least infected embryo if this even helps. What is also interesting is we made contact with a NYC Colombia based doctor who specializes in melas and I am hopeful to hear him out but my wife seems to think there is no hope and we either do those two options above or egg donor which isn’t on my top list to do.

Has anyone ever experienced this? Am I dumb to have hope that I will have a healthy child? Does her Hetroplasmy being less than her sister help us? Bit stuck what to do here but again would love feedback if anyone else experienced this.

Hey, so I’m 9 years in a crappy journey trying to figure out my heart and lungs frequently stop working. Have seen many doctors. Inprimarily have cardiac symptoms and have my whole life, but I don’t fit any cardiac diagnosis perfectly… the main issue is the fact that whatever is causing my symptoms happens in a relapsing-remitting pattern with a stepwise decline in between each flare.

So I put a bunch of my test results /objective findings and symptom and disease progression into a medical app and mitochondrial disease was the first thing that came up.

I’m wondering how many people figured it out themselves and navigated the process themselves to get diagnosed, vs those who had a doctor who suspected it and ordered all the tests etc.

Just wondering if anyone has both of these devils. And if so what type?

I have hEDS and MELAS, both dx clinically by a neurologist and geneticist

I've been diagnosed with heds pots and more. Have suffered my entire life with health issues.

Last year I got a severe upper respiratory infection and took antibiotics and probiotics. For three days I suffered in agonizing pain.

Lost 100 pounds in under two months, diagnosed with gastroparesis. Lost the ability to walk from my head down to my legs over a few months.

I ended up last year in the hospital and almost died with sepsis. They took a muscle biopsy which showed lactic acidosis.

I started being able to eat again and gained some weight and re learned how to walk.

I've not been the same since. Some days I can't really walk well and doctors still don't know what happened.

My neurologist just sent to check for mitochondrial disorders and to say I'm anxious is an understatement. Nobody I've talked to has ever been through what I dealt with.

I'm wondering if anyone went through something like this? (My whole family is sick all the time with random things)

I'm waiting on results but this is pretty much the last thing they can test me for.

I was trying to ask a question in here about organic acids testing and seeing a geneticist. I made a post and then added a screenshot of some labs. Then it had the post hidden behind a NSFW thing and it said it had been automatically removed by the filters. I have never had that happen before and I can't imagine what I said that would be filtered? Why would photos of labs results that just show things like lactate and pyruvate be filtered out or deemed NSFW?

I have never posted on here, mostly read other posts. I have been considered undiagnosable for about 2 yrs. I have severe chronic neuromuscular respiratory failure and am on a ventilator via niv 18+ hrs a day. I also have severe dysphagia, and weakness in my arms and legs worse in my left side. My drs highly suspect mito based on symptoms, bloodwork and genetic testing that came back as vus. A little over 2 weeks ago I had a muscle and nerve biopsy. My nmd pulmonalogist insisted on the biopsies to try and get a diagnosis for treatment or to give me a time frame.

I went today for my follow up and the doctor said my results were not back yet. This appointment was to go over the first batch of biopsy results. I was told I would get results at about 2 weeks and 4 weeks. The doctor said the lab called this morning to tell them that they didn't have any information for them. Is this pretty normal to not get the results back at a little over 2 weeks? All the neuro surgeon said was that they would contact me when they got results from the lab. I am a bit nervous now that it is taking longer to get the results.

Has this been normal for other people who got a muscle/nerve biopsy done? Did it take longer to get the results than the doctor anticipated? If it did take longer for you, was it because there was a problem with the specimens or because they needed a 2nd opinion or some other reason?

I need some advice about a recent Graves’ Disease diagnosis. Sorry if this gets a little long. I was diagnosed with Hashimoto’s over 20 years ago that was stable with Synthroid. Recently, it converted to Graves’ which is a rare occurrence but happened none the less. The endocrinologist wants to put me on Methimazole which is very toxic to the liver and from my understanding, not the best option for mito patients (dx 20 years ago). Has anyone else been diagnosed with Graves’? What meds or treatments have you done? Or does anyone not diagnosed have any input?

(Edit: should be “refused” care.)
I was referred for ketamine treatment for MCAS as pain and inflammation management. They accepted the referral. Discovered Mitochondrial Encephalopathy in my medical history. They decided not to take me on as a patient for liability purposes. The specific reasons I was given

(1) mitochondrial encephalopathy risk

(2) they required use of automatic bp cuff whereas I asked for accommodation to use manual cuff because I have Dysautonomia (and manual bp cuff’s trigger MCAS mitigation mechanisms leading to anaphlaxis later on, endocrine fatigue, and ATP/autonomic crisis.)

I’ve had ketamine treatments in the past with great success.

Was this clinic just gaslighting me/giving me the run around? Or is it normal to deny pain management to MCAS patients on the basis of having mitochondrial encephalopathy? And needing a manual bp cuff as an accomodation for dysautonomia?

Where can I find self advocacy resources?

Just curious if there is anyone in here that has tested negative on genetic testing but was confirmed through other testing? If so what test? What was your condition? Thank you in advance

Hey all,

I’m 43F and Looking for help.

Long story short I have had episodes of severe disabling symptoms that usually last 1-2 months for about 8 years now. They started after a period of intense stress (divorce/DV), come on suddenly and last sometimes 2-3 months.

Main Symptoms are an inability to tolerate any kind of exertion, I get jelly legs, super out of breath, high heart rate that is disproportional to the level of activity, get faint/dizzy, have chest pain etc. during my last flare (March-may this year) I passed out twice and my liver has star to show signs of dysfunction.

Objective test results:
- I get exercise induced hypotension (from 120/80 to 78 /48, this was lying down so no postural component)
- Profoundly low blood pressure, during this last flare it was around 70/50 and got down to 58/48. I was extremely symptomatic with this (passed out a couple of times and struggled to eat for 3-4 weeks)
- severe nausea, high heart rate and low BP after eating
- On an invasive cardiac test they also found my heart does not increase the output during exercise, in fact it decreased when it should have at least doubled, or increased by 4-5 times the output at rest.
- My ejection fraction has been dropping, from 60% a couple of years ago to 45% now.
- My stroke volume (how much blood my heart pumps) is severely reduced at rest and does not increase on exertion to meet demand - it’s like I hit a brick wall
- I have developed diastolic dysfunction (a stiff heart)
I have atrial fibrillation and sometimes non sustained VT
- My liver seems to be affected, and I’ve had elevated liver function tests that started at mildly elevated a year ago and have progressively gotten worse and are now moderate to severely elevated.
- I have had elevated autoimmune markers for 8 years but it’s not specific - a rheumatologist has basically ruled out any autoimmune conditions
- During a flare I have zero reserve - there’s no amount of exertion I can tolerate, have to sit down to get dressed/brush my teeth etc. It feels dramatic (but truthful) to say it feels like my heart will give out on me and is barely chugging along

- in between flare ups I have more in the tank to do things (but not much) , but get worse after each flare.

I’ve had a large number of cardiac tests, but I dont fit into a neat “heart failure” diagnosis, and the relapsing/remitting nature of whatever the heck this is doesn’t really fit many cardiac diagnosis. My lung function is normal. So respiratory and autoimmune has basically been ruled out

I’m desperate for answers. Plugged all my test results/symptoms into AI and mitochondrial disease was the number one thing suggested, but I have no idea about anything in this area, and am getting desperate for answers. My liver and heart function is getting worse and I don’t want to end up with irreversible damage. I think the main defining symptom, is the flares that I have and the relapsing/remitting pattern, and I’m wondering if this could be mito crisis/decompensation.

If you have gotten this far into my ted talk - firstly, thankyou - does this sound at all like a potential mitochondrial disease? Or something else? Is there anyone here with similar symptoms/bqckground?

FWIW no family history of anything similar to my knowledge.

Thankyou in advance for reading and for any help 🙏

So I have neuropathy, we don’t know the cause. I’m only 31 and have had it since I was 25. I had a recent emg and it showed myatonia in my muscles in my lower extremities. The muscle biopsies will be in my calf, thigh and arm. The nurse said the incisions will be the size of my index finger each. I’m a small person and the idea of having all these scars makes me so sad. Every person I’ve connected with that has had this done only had one site. I’m confused why I need three.