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A member asked:
Which type of doctor dx's mitochondrial disease? genetics? neuro? is there such thing as a mito specialist? clinic best known for mito?
4 doctors weighed in across 3 answers
Please see here: Consider reading this link to determine who would be the appropriate specialist for your situation. http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=8032185 A good clinic for mitochondrial disease is here. http://www.ucsdbglab.org/mmdc/brochure.htm
Answered 11/4/2014
3.6k views
Pediatric geneticist: Mitochondrial diseases produce particular syndromes that would be hereditary through the maternal line. The severity of the symptoms varies even within affected individuals in the same family. Closely looking at metabolic breakdwon products in urine and a muscle biopsy would diagnose nearly all of the cases.
Answered 11/4/2014
3.6k views
Both geneticists &: pediatric neurologists do muscle biopsies to determine which of the more than 60 mitochondrial disorders is present. I refer to San Diego, but Seattle Children's may be closer to you. http://www.umdf.org/atf/cf/%7B858acd34-ecc3-472a-8794-39b92e103561%7D/MITO_NEWS_VOL_15_ISSUE_3_WEB.PDF has info & resources. Check out the UMDF site for Mason's Run right there in Red Lodge & contact his parents.
Answered 11/4/2014
3.6k views
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