fatty acids & carbohydrate metabolism defects in CMT

[Dorothy__0__0]

  I am a 47yr old female with Charcot Marie Tooth Type 2, I have heard that there is a possible link between carbohydrate & fatty acid metabolism defects in CMT and the high cholesterol reading that I have .  Have you heard of any of the studies that discuss these defects in metabolism where they relate to CMT? and/or do you know what the specific defects are?  I would really like to know this before starting on hyperlipemic medication to lower my cholesterol.  I have heard also that these medications like Mevacor can have serious side effects when taken by someone with CMT. Thank-you for this opportunity to ask this question
Dear Dorthy:
Sorry to hear about your disease.  As far as I understand the disease, other than the linkage with chromosome 1 (short arm), there is no true etiology for this disease.  It is true that some of the mitochondrial disorders can give a similar clinicial picture, the EMG findings together with the clinical picture usually will diagnosis CMT.  Since sensory nerve action potentials are uniformly reduced or absent with the motor nerve conduction velocities normal, it would be hard to envision a metabolic disorder doing this, although anything is possible.  I would think that your lipid profile is not the result of your CMT, and that taking cholesterol lowering medication would be helpful if your profile is abnormal.  Your doctors probably know this but mevacor has been associated with myalgias and muscle weakness, it has also been associated with elevated CPK levels.  They will probably follow this level as they begin treatment.  Best of luck and let us know if we can help.
Sincerely,
CCF Neuro[P] MD, RPS