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Possible mitochondrial disease

  A three year old male with progressive ataxia has been under investigation
  for the past eighteen months. There has been no diagnosis or treatment,
  and his condition continues to deteriorate. Ataxia telangiectasia has been
  ruled out. The AT test results took four months and the child's condition
  deteriorated markedly during that period. Now skin and muscle biopsies
  have been suggested, but the results may take three to six months. These
  tests are being performed in Canada. Would the results be back more
  quickly if the tests were performed at your clinic?
Testing for Friedrich's ataxia, spinocerebellar atrophy types 1,2, Machado-Joseph disease, mitochondrial disorders, and other testable rare inherited progressive ataxias are sent out to national reference labs like Athena and are rarely performed at individual institutions. We do not perform any of them directly at the Cleveland Clinic to the best of my knowledge. Turnaround time in the U.S. for an ataxia profile is typically about 2-4 weeks depending on the lab. One important very rare cause of progressive spinocerebellar ataxia to always test for (but which is often not tested for) is congenital vitamin E deficiency. A simple alpha-tocopherol level (serum vitamin E level) can rule this out. It is usually the result of a mutation of one of the transporter proteins that facilitate its absorption from the gut or around the body. If you are interested in an evaluation in the U.S., there is an ataxia expert at the University of Michigan in Ann Arbor, although his name escapes me right now. In Canada, the Hospital for Sick Children in Toronto is a world renowned pediatric neurology center. McGill neurologic institute in Montreal would be another excellent option. We wish you well in your efforts to obtain help on your young son's behalf, and hope you find this information useful in some way. Good Luck!!!
Please remember that information provided on the forum is intended for general informational purposes only and that the actual diagnosis and treatment of your son's specific condition should be strictly in conjunction with his treating physicians.

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