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Permalink Reply by Shady on August 9, 2017 at 5:16am

Good day
I guess that your son's mutation leads to in frame reading which is highly predicted to be milder form ( Becker) as the said deletion may not disrupt the DNA reading frame, exon 4 can match Exon 17,you can ask a genetic consultant
Regards

Permalink Reply by Shady on August 9, 2017 at 10:25am

My son has a duplication of exons 53 to 57 predicted to be duchenne as it leads to out of frame reading,when I asked my neourlogist she said that all mutations are complicated and the estimated phenotype is only based in researchers data,
The differentiation between Duchenne & Becker is mostly based on the clinical disease progression of the patient as you can see 2 patients with same mutation type differs in progression and symptoms
The good care is the best treatment to preserve muscle strength as long as possible and we ask God for a cure soon,
Strong researches and trials are ongoing nowadays , we hope for a cure
Have you got a treatment plan to share with me?,
My son will start deflazacort and vitamin d and he is on physiotherapy and swimming

Permalink Reply by Shady on August 9, 2017 at 1:49pm

Dear how is your son symptoms now? and when did you discover the onset age of symptoms?

Permalink Reply by Shady on August 9, 2017 at 3:10pm

Same as my son , anyway Thanks God that they are still young and hope for a cure soon ,I think gene therapies for example microdystrophin may be the cure soon we have to focus now on a good care for them