17602729 T;T AMPD1 deficiency homozygous


#1

I am wondering if others with this variant also experience exercise intolerance. I have always been unable to perform strenuous acitivity for long before muscle fatigue and pain sets in. Never diagnosed, just thought it was “normal” or I wasn’t trying “hard enough.” Now I learn this may have been a factor. Thank you!


#2

I used to go through phases where I would experience this, which being the avid exercise person I am, is very frustrating. Since I passed 35 years old, I can’t exercise as long or sustain the difficulty level that I used to. Most would blame it on age, but I don’t believe that it’s so cut and dry.


#3

I’ve long dealt with exercise and heat intolerance. At some points, I was able to overcome it (like when I had a really flexible schedule in college or when I was raging angry from dating struggles).

The only thing wrong the doctors have found in me for sure are abnormal sleep study results (they diagnosed idiopathic hypersomnia and periodic limb movement disorder). They also diagnosed ADHD, but I think that probably stems from the sleep disorder.


#4

Sounds like me!
I cant sleep normally, and never have


#5

I wanted people to know that I have a facebook group for those with diagnosed myoadenylate deaminase deficiency or who know from 23 and me or another service that they have the 17602729 TT (which actually is AA on 23 and me). We have right now about fifty people, but someone on my Trying Low Oxalates group said they added a template to detect this abnormality in people using Livewello. I have found that the definition of this disorder with a muscle fatigue and soreness issue matches so few people, but we have made a lot of other discoveries of common features. I hope those who have A on either or both alleles will come join us. I sometimes think heterozygotes may end up with a more severe phenotype, and we are still trying to figure that out but sleep disruption, and an inverted sleep cycle are issues. It may appear without the muscle issues. Look up our group on facebook (ampd1 - myoadenylate deaminase deficiency) and please, please answer the questions asked when you join.