How do doctors diagnose mitochondrial disease?

Complex. It is complex due to genetic heterogeneity. Gusto pathology findings and respiratory chain enzymes are correlated with clinical findings. Muscle biopsy and direct testing of mitochondrial genes are frequently utilized. Question is complex and should be addressed to pediatrician who will direct you to facility equipped to handle diagnostic procedures.
Big work up. All suspected patients get blood and urine tests. Then to see how widespread the disease is, ekg, echocardiogram, brain mri, audiology and eye exams are next. Patients with neurologic symptoms need spinal fluid tests, and people with developmental delays get neurogenetic testing and counseling. For more info and to find docs that take care of these diseases, see umdf.Org. Good luck.

Related Questions

Which type of doctor Dx's mitochondrial disease? Genetics? Neuro? Is there such thing as a mito specialist? Clinic best known for mito?

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. Read more...
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. Read more...
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. Read more...

My neighbors say my new doctor tends to overdiagnose everyone. He thinks I might have mitochondrial disorder. Can you tell me the symptoms?

HYPOchondrisis. A preoccupation with body functions and interpretation of normal body sensations as illness in an otherwise healthy person.The word comes from greek for "below the rib cartilage". Read more...
Mito usually missed. Suspect mitochondrial disease with involvement of multiple organ systems--immune system dysfunction (both autoimmune and susceptibility to infection), the autonomic nervous system (gastrointestinal motility, irregular body temp, blood pressure, heart rate and rhythm, heat intolerance), periodic muscle and joint pain; progressive weakness throughout the day, neurologic problems. Read more...

Is mitochondrial disease difficult to diagnose? How is a diagnosis reached?

Often it is. Mitochondrial diseases can present from any organ system at any age. Diagnosis can be made by specific clinical criteria (symptoms, brain MRI imaging, muscle biopsy, elevated lactate in blood) or, by finding a genetic mutation either in mitochondrial dna or one of the hundreds of other genes that cause mitochondrial disease. Latter is a more accurate diagnosis. Read more...

What are the minimum tests needed to diagnose mitochondrial disorder?

A good doctor. Mitochondria have their own dna, so mitochondrial gene mutations must be diagnosed at a lab such as dr. Boles at usc; but diagnosing mitochondrial dysfunction is a matter of appropriate interpretation of symptoms, as well as testing things such as vitamin B12 function (mma), mg (rbc), zn (rbc), and phase angle on body composition analysis. Find a doctor who knows mito disorders. Read more...
This is a long road. By the time these kids are labeled, they have been through a variety of workups with pediatricians, neurologists, etc. Early on this can mimic a seizure disorder, congenital infection, or other condition. With luck, they will end up in the hands of some of the few doctors in the country that can set up the proper testing, much of which is only done in a few labs. Read more...

What is dysatonomia? My daughters cardiologist diagnose her with it. She is seeing genetics for a mitochondrial disorder. Should I be concern?

Autonomic dysfunctio. Dysautonomia is any disease or malfunction of autonomic system, which controls several functions in your body.Heart rate, blood pressure, peristalsis in gastrointestinal tract and swaeting and others.Malfunction can involve any of those functions. It may occur in other conditions like diabetes mellitus, guellen barre syndrome and some other conditions.Mitochondrial disorder can cause autonomic dysfunc. Read more...