Which genetic tests should I undergo for muscle issues at 42?

Hi doctor,

I am a 47-year-old woman, and I have been dealing with health complications for most of my life, so I have managed well with diet and exercise. I have presented with ataxia on three different occasions, and IV antioxidant therapies were helpful to relieve my symptoms. A few years ago, carnitine was recommended to my daughter and me after going through some organic acid tests.

The reports showed that I have some issues with 3-methylglutaric acid, and my daughter has issues with it. I would also mention that I have chronic muscle spasms, with clinical manifestations related to ocular disturbances, pain, kidney pain, heart fluttering while sleeping, and loss of smell with no autoimmune markers. I can say that I have a long list of muscle issues and multisystem afflictions with some mitochondrial alteration, which can also be genetic.

So, I want to know what the correct genetic tests are. I had a PEM, MRI, EMG, blood work, spinal tap test, and irregular ECG, and my doctor required a muscle biopsy.

Please help.

Thank you.

Hi doctor,

Thank you for replying.

I would like to answer your questions.

The ataxia pancytopenia has occurred three times, and all three times, I was not doing regular IV antioxidant therapies. The first time I did an extensive stem cell treatment, I recovered in two months, and the second time it lasted six months, with a general overall deterioration. I was not seeing an ophthalmologist when this occurred, as it was suggested I had optic neuritis and still had some unusual movement when I went to a neuro-ophthalmologist.

The second time, I had a treatment called "neurocytonix" in the neurocytotron, and I recovered fully in a few months, but symptoms returned. I have my test reports, and the reports suggested a spinal MRI with syringomyelia, and an ECG presented with epileptic waves and possible left parietal lobe atrophy.

In the PEM, there is an absence of cortical response with peripheral stimulus in the lower extremities. The EMG depicts no evidence of peripheral neuropathy, no evidence of inferior motor neuropathy, no evidence of inflammatory muscle disease, and the data suggest intrinsic muscle affectation non-inflammatory of the proximal in inferior members, a muscle biopsy is recommended, and polyphasic MUAP.

I feel very ill and will soon fall sick. I also have organic acid tests, which are recommended for a DNA Methylation test. Ethylmalonic acid is elevated due to the Methylsuccinic and Suberic, low amino acids, and elevated 3,3-methylglutaric. Reduced aconitic acid and reduced pirúvico. I have major digestive issues and atrophied villi, chronic ileitis, and duodenitis.

Mostly, I have managed my health with IV ozone therapy for the last 16 years and high doses of vitamin C and glutathione. I got rickettsia in two months, one week after the antibiotic, and I began with ataxia. I always have high cholesterol, have kidney pain, and have to retest my urine labs, which indicates a possible error. I do regular exercise and eat mostly animal protein, vegetables, and fruit. A few nuts and things like quinoa.

I have less dairy, bread, and other carbs, as it makes me unwell, and the first signs of not being well are my muscles. I am drained by all the things going on. I want to know how I could manage these, as I have to travel a long way for just an ozone IV treatment, which makes my blood heavily oxidized. Although at present all basic blood is ok, my Hashimoto's is in line if I eat well; I normally have chronic anemia and low white blood cells, but they are ok now.

I also have low alpha tend, and my CK is fine. I have gone through autoimmune tests and do have a positive ANA 1:160 with a pattern that is too low for my extreme symptoms. I will share my most recent labs.

Please help and let me know how I can manage the symptoms.

Thank you.