Do I need re-evaluation or a 3rd opinion?

[Jan Bailey]

I have had wierd neuro symptos...hot patches on skin, wierd goosebump patterns, pins and needles, stabbing pains, myoclonic jerking, tingling--off and on for about 4 years.  After 2 frozen muscle biopsies (the last one year ago due to abnormal Emg with muscle atrophy (type II) in nearly all muscle groups I was diagnosed with mytochondrial cytopathy when my neuro found 3 cells out of 3000 with rrf's.  Second opinion with Dr. Cohen in ll/2000 confirmed diagnosis of nonspecific mito based on path report, lactate/pruvate ratio of 30, elevated alanine and intermittant air hunger.  Also, pft's with stress test support diagnosis. Whip lash (3rd in 4 years) one month ago and since then have had lots of twitching (new), 100% increase in sensory pains, esp. in feet and legs and lots of neck stiffness and crackling/popping when turn head.  Also increase in "fatigue" in legs...feel I am walking through water at times...especially if I walk briskly day before.  Arms remain exercise intolerant but no change from one year ago.  Reflexes remain "slow" or absent in ankles, Babinski negative. Where do I go from here?  My neuro wants to wait 3 months and then if symptoms remain, check for CIDP/etc....should I wait that long? Is twitching common in mito?

[Croz]

I have no dx but many of your symptoms.  I've been on neurontin for about 3 mths, only 300mg 3x/day, and my parasthesia and pain is down about 80% with zero side effects.  Great med for me, FYI.  Good luck.

[CCF-Neuro-M.D.-JT]

Myoclonus is certainly present in a number of mitochondrial syndromes such as MERRF myoclonic epilepsy with red ragged fibers.If you already haven't had one, an EEG may be helpful to see if you need antiseizure treatment to help with the myoclonic jerks. I assume you're on CoQ 10 and/or carnitine for the mito dz. If you're really having a lot of problems, you should see someone about them. I'm not sure that you need a third opinion, especially if you've seen Bruce Cohen at CCF who is a mito specialist. Consider going back to him or make an appointment with your old neuro doc. If there are no new neuro symptoms and pain is the biggest problem, consider going to a pain clinic. Of note, a med called neurontin could help with the tingling pains in your limbs. Talk to your doc and tell him all that you're going through. Best of luck.