Mitochondrial possibility

[jpaul119]

My drs and I have been chasing various diagnosis for 3 years.  My symptoms have been: headaches, ringing in ears, severe weakness which prevents me from walking any distance, pain in back and legs, feel like walking in chest deep water, memory issues, depression, vision issues which are light sensitivity and floaters, dizziness, bloating and constipation.  I also have had 3 surgeries to repair my spine for cervical and thoracic cord compressions.  I also had a heart ablation due to heart arythmia.  I have a very low tolerance for stress.  I till work, but getting really difficult.  I can not travel without issues. I have had a few flare ups where I get face numbness and slurred speach.  They have done numerous tests. These have included 2 brain MRI showing several spots on brain, several spine MRIs, myelogram of entire spine - showing 11 herniated discs, DNA test for cadasil, blood tests for lupus, lyme, celiac, other basic diseases.  I also had a spinal tap for MS.  So far, nothing specific other than spine issues that have been corrected.  Slight blood variances for albumin (slighty high), creatine (sl hg), alk phosphatase (sl lw), low testosterone (sl lw), b12 (sl lw).  Other test in these groups were normal.  None of them were significantly out of range.  

I am currently recoverying for the thoracic surgery on T7-8 that was done at Cleveland Clinic.  My other neurologist still think something else is wrong.  Next month, they plan to look at a mitochondrial disease.  The symptoms seem very similar.  I would appreciate any comments, especially people with mitochondrial diseases.  

[Kot1972]

Hi,
I have a long-lasting health problem that was believed to be a mitochondrial disease for two years. Now, after seeing a mitochondrial expert, it was not confirmed. But I have learned quite a lot about testings and where to go for consult. Please feel free to write to Kot1972.  

[jpaul119]

Thank you for taking the time to comment on this.  I see what we find out next month.

[Neuro Forum]

Thanks for using the forum. I am happy to address your questions, and my answer will be based on the information you provided here. Please make sure you recognize that this forum is for educational purposes only, and it does not substitute for a formal office visit with a doctor.

Without the ability to examine and obtain a history and review your imaging, I can not tell you what the exact cause of the symptoms is. However I will try to provide you with some useful information.

It sounds like you have a variety of symptoms, and that you have had extensive testing with non-specific findings (findings that do not point to a specific diagnosis but are abnormal such as the spots on the MRI of the brain). Whether or not a mitochondrial disorder or some other neurologic disorder is present depends on large part on the physical examination; mitochondrial disorders, depending on which one, can lead to problems in the brain and spinal cord, peripheral nerves, and muscles.

Mitochondrial disorders can also affect multiple organ systems including the heart, as can other disorders of muscle (generically termed myopathies, of which there are many, some genetic, some metabolic). Myopathies would not lead to abnormalities in the brain or spine, but some disorders can lead to both problems in the brain, spine, and muscles all at once. Symptoms of mitochondrial disorders are highly variable but do include neuropsychiatric symptoms such as memory problems, depression, and others, muscle weakness, fasting intolerance, problems with anesthesia, and others.

Sometimes, there are screening tests that can be done for mitochondrial disorders (such as serum lactate) but in other cases, more extensive blood tests and muscle biopsies are needed. The same is true for the myopathies. Whether or not this is indicated again depends on your symptoms, history, and examination.

Continued followup with your neurologists is recommended.

Thank you for using the forum I hope you find this information useful good luck.