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Dr. Andrew Rynne

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Suffering from spinal muscular atrophy. Genetic analysis report says negative for it. Whats wrong?

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Dr. Piyush Ostwal

Neurologist

Practicing since :2005

Answered : 349 Questions

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Posted on Thu, 24 Jan 2013 in Brain and Spine
Question: Dear doctor,
I am 35 years old woman. I am suffering from SMA (I feel weakness of my muscles on legs and arms). The first symptoms I noticed, when I was 20 years old. Diagnosis of SMA was established in 2007, but there is still a problem, that there is not possible to determine the exact form of the SMA. In blood tests only KFK is very high (last number was 836 (<170)) and only EMG shows that I have muscle damage like in SMA). I had also did a genetic analysis and result - accomplished molecular diagnosis of spinal muscular atrophy is negative (95%) - Here in Latvia there are not possible to test last 5 %, but there were remark - SMN gene 7. and 8. exon deletion. How could be possible to determine a precise form of SMA? Is it possible that I don' t have SMA but other type of disease?
Sincerely Yours,
I am vegetarian (not eating meat, but eating fish, egs). Can food affect the course of my disease (SMA)?
Comment about my lifestyle just for information. Physical exercises 20-30 min. every morning and singing. Food supplement - Selen, B group vitamins, Spirulina.Meldonium for my heart periodicaly. For this time medicines for gallstone dissolution.
XXXXXXX
doctor
Answered by Dr. Piyush Ostwal 3 hours later
Hello,
Thanks for the query.
In the current era the final diagnosis of spinal muscular atrophy is established by genetic testing as has been done for you. I am not aware of the KFK values that you have mentioned. It would be useful if you could provide the expansion of 'KFK', if available. Probably it is CPK (cretinine phospho kinase) in English. It is slightly raised and such levels can be seen in SMA.
There is a link ( WWW.WWWW.WW ) which you can go through and see if some of them may be able to help you with the testing for the precise form of SMA that you are having.
From the information that you have given it appears that you are most likely to have SMA and not other disease. Muscle biopsy can further confirm SMA (but not specify the type) if there are still doubts.
The diet, lifestyle, the medications and the supplements are not known to have an impact on the course of disease. Research trials are on for a number of drugs which are proposed to be useful for halting progression of the disease.
Hope this information helps you. If there are more queries, i will be happy to answer.
Good luck.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Piyush Ostwal 1 hour later
Thank you very much for your answer. At least I get confirmation from another neurologist, that I really have SMA. About KFK, sorry that I forgot to translate, but you understood right that is CPK in English. Last question, if it is possible. How much my health can be affected by pregnancy? I meant how much worse my health condition can become after child birth? I don' t have baby yet.
doctor
Answered by Dr. Piyush Ostwal 9 hours later
Hello,
Pregnancy by itself may not affect the actual disease. But the stress of pregnancy will be more for you to handle with your weak muscles.
And I think you would already know that you should get a genetic counselling before planning pregnancy.
Good luck.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Piyush Ostwal 4 hours later
Dear, Doctor,

Thanks for your answers; it gives me more comprehension about my disease.     

Probably this is a question more to geneticist. In which case, we can reduce the risk of disease inheritance: If I have a baby with man in my nationality, with man from Europe or with man from Asia? Or there is no difference in nationality; it depends only on the genes?
Sincerely yours, Inese Upite
doctor
Answered by Dr. Piyush Ostwal 8 hours later
Hello,
There are differences in the prevalence of persons carrying mutated genes between different populations (races). I am not sure about the probabilities of inheritance between the different combinations that you have asked. Proabbaly su such data is not available. And yes, whatever be the race, what determines the outcome is the genes. Preconception and prenatal testings can be done for best outcomes.
Good luck.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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