Genetic testing question

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Anjum nazir

Active member
Joined
Dec 31, 2017
Messages
33
Reason
PALS
Diagnosis
07/2018
Country
IN
State
JK
City
Srinagar
Only two members of my family died of mnd..I am having symptoms but do not know how to track for the right genes...have I to screen the whole gene sequence or a few allele I do not know plus it costs much more to scan the whole genome...
Both my wither and my aunt survived on bed for 17 long years before dying of pneumonia and respiratory failure and both were involved in the disease by the age of 45 and so am I...it was progressive muscular wasting of lower limbs and so it is to me...within one year I have lost my right leg...weakness began in my ankles and feet more on right side before progressing to peroneals and then to shin bone and thighs ...my ankle and knee is also weak on right leg...I feel tingling in my feet and hands and pain in the muscles of my legs...it is hard for me to walk now.
But I do not know how to test foe the.diseased gene though I am also being affected at the same age as my relatives....
 
Re: FALS and gene testing

If you have a confirmed diagnosis of MND you have 2 ways to approach it. If you do not then testing is not usually advised. You never answered our questions but implied your EMG was not diagnostic for MND.

Someone with ALS and a family history should talk to their doctor. There is a panel of ALS genes that can be ordered.

The other approach is for the doctor to look at the family history and ethnicity and test for the most likely mutation. If that is not the answer THEN test for the others
 
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Re: FALS and gene testing

Few.months back I did emg of both legs which was normal but my wasting never stopped . I have been advised by doc for another emg of back and legs especially peroneals which I am about to undertake....my walking has been affected to such an extent that I cannot walk for 100 feet even. There is a continuous retardation for the past 10 months and there is no way.to stop it my left leg has also begun to get weakened...
My docs are on wait and watch approach...they say by 18 Months I will lose my total mobility...I also have absent reflexes in my right ankle...
I asked for gene panel study and it costs a bit much more...am worried foe my kids...
 
Re: FALS and gene testing

If you don’t have a clear diagnosis yet then testing for ALS genes would be a waste of money. Once they have diagnosed your problem then you can talk to them about what genetic tests should be done.

I have moved this into a separate thread
 
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