Which genetic tests are recommended for a 47-year-old woman with ataxia?

Hi doctor,

I am 47 years old woman and I have been dealing with health complications for most of my life and 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 the 3 methyl glutaric acids and my daughter's with 3 methyl glutaric acids. I would also mention that I have chronic muscle spasms, with clinical manifestations related to ocular disturbance, 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 affectation with some mitochondrial alteration which can be genetic also. So, I want to know what is the correct genetic tests. 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 has occurred 3 times, and all three times I was not doing regular IV antioxidant therapies. The first time I did an extensive stem cell treatment and recovered 2 months and the second time it lasted 6 months with a general overall deterioration. I am not seeing an opthalmologist 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 from 2021, and reports suggested that 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 fall sick soon. 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 methilglutaric. Reduced aconitic acid and reduced pirúvico. I have major digestive issues and atrophied villi, chronic ileitis, and duodenitis. Mostly I manage my health with IV ozone therapy for the last 16 years and high doses of vitamin C and glutathione. I got rickettsia in 2020 and in 2 months 1 week after the antibiotic, I began with ataxia. I always have high cholesterol, have kidney pain, and have to retest my urine labs says possible error, I do regular exercise, and eat mostly animal protein and vegetables and fruit. Few nuts and things like quinoa. I have less dairy and bread and other carbs as it makes me unwell and the first signs of not being well are muscles. I am drained about all the things going on. I want to know how I could manage these as I have to travel a long for just an ozone IV treatment which makes my blood heavily oxidated. 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. I also have low alfa 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 can I manage the symptoms.

Thank you.