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What Is Life Expectancy Of Child With Primary Mitochondrial Disorder?
Question: Son with complex I iii IV mitochondrial disorder per muscle biopsy dr wanted to do DNA sequencing for epilepsy panel as child also has XXXXXXX gastaut syndrome this md is not sure if it is primary or secondary mito. Does the treatment change? What is life expectancy of child with primary mito complex I iii IV vs secondary. Would muscle biopsy have shown if it was primary or secondary? Child fatigues quite often
Also want to know should I be checked for mito his MtDna was negative but I have diabetes, osa, narcolepsy, depression, Gerd, ibs with diarrhea, hx of Barrett's esophagus smoke drink rarely, high cholesterol, htn, asthma I know don't smoke, insomnia, dx with fatty liver at one point, had scoliosis as a child has been corrected, migraines, heavy menses, anxiety, vision hasn't stabilized as an adult, gastroparesis, vomit when upset, get ill when I first start exercising, foot drop, had gallstones and gallbladder out at 22 yo. Had a ton of warts as a child now just a few after they were burnt off. Tachycardia most of the time and headed towards hyperthyroidism
Also want to know should I be checked for mito his MtDna was negative but I have diabetes, osa, narcolepsy, depression, Gerd, ibs with diarrhea, hx of Barrett's esophagus smoke drink rarely, high cholesterol, htn, asthma I know don't smoke, insomnia, dx with fatty liver at one point, had scoliosis as a child has been corrected, migraines, heavy menses, anxiety, vision hasn't stabilized as an adult, gastroparesis, vomit when upset, get ill when I first start exercising, foot drop, had gallstones and gallbladder out at 22 yo. Had a ton of warts as a child now just a few after they were burnt off. Tachycardia most of the time and headed towards hyperthyroidism
Brief Answer:
I would recommend going in for Mitochondrial DNA Sequencing
Detailed Answer:
Thanks for asking on HealthcareMagic.
DNA sequencing for epilepsy panel is a test to identify certain mitochondrial disorders. Rather going for a more extensive 'Mitochondrial DNA Sequencing' (as in http://www.medicalneurogenetics.com/OpenTestSearch/TestsByCat.aspx?Cat=Genetic&Sub1=mtDNA&Sub2=Sequencing ) should be more informative. It will help in identifying whether the disease is primary or secondary.
About the treatment, I can say that secondary diseases are likely to be less severe and can respond better although the treatment modalities would be the same.
The average life expectancy of of primary mitochondrial disorders is less than a year. But there can be broad variations.
Muscle biopsy has its significance although it will not help in determining whether the disease is primary or secondary.
Hope that helps.
Regards
Dr. Diptanshu Das
I would recommend going in for Mitochondrial DNA Sequencing
Detailed Answer:
Thanks for asking on HealthcareMagic.
DNA sequencing for epilepsy panel is a test to identify certain mitochondrial disorders. Rather going for a more extensive 'Mitochondrial DNA Sequencing' (as in http://www.medicalneurogenetics.com/OpenTestSearch/TestsByCat.aspx?Cat=Genetic&Sub1=mtDNA&Sub2=Sequencing ) should be more informative. It will help in identifying whether the disease is primary or secondary.
About the treatment, I can say that secondary diseases are likely to be less severe and can respond better although the treatment modalities would be the same.
The average life expectancy of of primary mitochondrial disorders is less than a year. But there can be broad variations.
Muscle biopsy has its significance although it will not help in determining whether the disease is primary or secondary.
Hope that helps.
Regards
Dr. Diptanshu Das
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
I am sorry if I seem dense uo am just clarifying was the suggestion for myself or my son to go for the DNA sequencing. Thank you in advance
Brief Answer:
It does not matter
Detailed Answer:
Thanks for writing back.
The entire mitochondrial pool of your baby comes from the mother. So it does not really matter if you get mitochondrial DNA sequencing done for yourself (assuming that you are the mother) or your child. In any case it will indicate the possibility of being passed on if you have another child (which would be present in primary disease).
Hope it helps.
Regards
Dr. Diptanshu Das
It does not matter
Detailed Answer:
Thanks for writing back.
The entire mitochondrial pool of your baby comes from the mother. So it does not really matter if you get mitochondrial DNA sequencing done for yourself (assuming that you are the mother) or your child. In any case it will indicate the possibility of being passed on if you have another child (which would be present in primary disease).
Hope it helps.
Regards
Dr. Diptanshu Das
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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