Hi--Have your doctors looked into the various myotonic dystrophy disorders? They are abbreviated as MD1,MD2, and some doctors say there is a MD3. MD1 is the only form so far that has included a congenital form; the weakness, internal and external, is a primary symptom. Some learning disability can be associated with it but I don't know if that's always the case. There can be some variability to the expression of DM symptoms. It's caused a potassium channel dysfunction,I believe. In other words, it wouldn't show up in a brain MRI.
My family and I are being investigated for the MD2 form. Ours, so far, has not been shown to be congenital, like little Landon's disorder. Diagnosis is taking some time; it often is with the myotonic disorders.
Respiratory dysfunction is a primary symptom of the congenital form of MD1, along with other forms of weakness throughout the body. MD1 is also the most common form of muscular dystrophy so it's hard to imagine that doctors haven't considered it. But perhaps a key symptom isn't present yet--not unusual in MD. Or perhaps there is a problem with the genetic testing. (Some say it's still too early to rely completely on genetic testing--especially with the myotonic dystrophies. Researchers last year revised the way MD2 is diagnosed through genetic testing, after discovering some exceptions to their usual method.)
I wish you and little Landon the very best. It looks like he's getting the treatment he needs, despite the lack of a diagnosis.
Thanks for listening. Hope you find an answer soon. Karen Parish
3 comments:
http://www.youtube.com/watch?v=PPO2FRUaRJ8&sns=em
YouTube video
Hi--Have your doctors looked into the various myotonic dystrophy disorders? They are abbreviated as MD1,MD2, and some doctors say there is a MD3. MD1 is the only form so far that has included a congenital form; the weakness, internal and external, is a primary symptom. Some learning disability can be associated with it but I don't know if that's always the case. There can be some variability to the expression of DM symptoms. It's caused a potassium channel dysfunction,I believe. In other words, it wouldn't show up in a brain MRI.
My family and I are being investigated for the MD2 form. Ours, so far, has not been shown to be congenital, like little Landon's disorder. Diagnosis is taking some time; it often is with the myotonic disorders.
Respiratory dysfunction is a primary symptom of the congenital form of MD1, along with other forms of weakness throughout the body. MD1 is also the most common form of muscular dystrophy so it's hard to imagine that doctors haven't considered it. But perhaps a key symptom isn't present yet--not unusual in MD. Or perhaps there is a problem with the genetic testing. (Some say it's still too early to rely completely on genetic testing--especially with the myotonic dystrophies. Researchers last year revised the way MD2 is diagnosed through genetic testing, after discovering some exceptions to their usual method.)
I wish you and little Landon the very best. It looks like he's getting the treatment he needs, despite the lack of a diagnosis.
Thanks for listening. Hope you find an answer soon. Karen Parish
Thanks Karen
Post a Comment