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Ask the Mental Health Expert Archives 2001-2004

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Multiple Conditions

Q. My daughter, who is 12, has Mitochondrial Disease and Tourette's Syndrome. At times her tics get so bad in her throat that she has problems breathing. Her doctor has never had a patient with this kind of compromise and neither has her partner who specializes in tics disorders.

We both, her Dr. and I, are searching for someone who has dealt with this kind of thing. We desperately need direction in this area. If you can help or know someone who can please let me know so I can give them the contact information to our doctor.

A. I'm sorry to hear that you, your daughter, and her doctors are struggling with what sounds like a very complex set of conditions. It's also hard to know what "this kind of thing", as you put it, really is--a primary mitochondrial disorder that produces Tourette-like symptoms; or actual Tourette's Disorder, that just happens, in your daughter's case, to be associated with a mitochondrial disorder.

For our readers who may not have much information on these conditions, here's a quick primer: Mitochondria are tiny structures that serve as the powerhouses of our body's cells. They produce chemicals, such as ATP, that in turn serve as energy sources for hundreds of different chemical reactions. Mitochondria actually have their own genetic material (DNA), and abnormal mutations in this material can sometimes result in neurologic and psychiatric symptoms. One such mitochondrial disease, known as Leigh syndrome, is characterized by seizures, developmental delay, muscle weakness, respiratory abnormalities, and other problems.

Tourette's Disorder [TD] is a chronic condition involving both motor and vocal tics. By definition, TD is not diagnosed if the disturbance is the direct result of a general medical condition, such as post-viral encephalitis. So, technically, your daughter would not be given a diagnosis of TD is it were known that her tics or respiratory problems were the direct result of a mitochondrial disorder.

There are several nationally-known experts in pediatric neurology and/or mitochondrial disease who may be of help to you and your doctors. Drs. WD Graf and RH Haas at the University of Washington, Seattle (Dept. of Pediatrics) have written on autism associated with mitochondrial DNA mutation (J Child Neurol 2000 Jun;15(6):357-61). Drs. Macaya, Munell, Burke, and De Vivo at the Department of Pediatrics, Columbia Presbyterian Medical Center, New York, NY, have written on "Disorders of movement in Leigh syndrome". (Neuropediatrics 1993 Apr;24(2):60-7); and Drs. Filiano, Goldenthal, Mamourian, Hall, and Marin-Garcia at the Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, NH, have written about "Mitochondrial DNA depletion in Leigh syndrome" (Pediatr Neurol 2002 Mar;26(3):239-42).

Finally, your doctors may want to contact Dr. AL Gropman at the National Human Genome Research Institute, Neurogenetics Branch, National Institutes of Neurologic Disorders and Stroke, National Institutes of Health, 10 Center Drive, Building 10, Room 3B04, Bethesda, MD 20892, USA.[gropman@ninds.nih.gov]. I hope you and your daughter find some help soon.

January 2003

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