Weakness and stiffness my whole life...56 years old...2 years ago genetic testing showed autosomal dominate mutation in KBTBD13....finally something to hang my hat on....thanks for this webinar
I appreciated this video very much. At the end of the presentation, when the question about adult patients arose, Dr. Brown described my family perfectly - still ambulatory, met the usual milestones, but always weak, never star athletes, never sure what was wrong. Respiratory compromise, bulbar weakness, and neck weakness are "normal" for them. Everyone says, "What's wrong with you? Can't you stay awake/keep up/ act normal?" And we want to, but we can't. Invitae may finally have pointed us in the right direction, although even Invitae were very unwilling to acknowledge that the VUS might mean something, and they strongly recommended "no further testing." My mother died without any genetic testing whatsoever. I wish I could have given her the answers she was seeking, but hopefully my generation and those that follow will have the help she missed.
Hi, I'm a 22 y old with congenital myopathy. I did fine for all those years apart from the congenital defects but recently for the past two years I've had weakness, can you let me know the prognosis for this? If possible, then get in touch it'll be of great help to me. Thank you!
Weakness and stiffness my whole life...56 years old...2 years ago genetic testing showed autosomal dominate mutation in KBTBD13....finally something to hang my hat on....thanks for this webinar
Thanks
I appreciated this video very much. At the end of the presentation, when the question about adult patients arose, Dr. Brown described my family perfectly - still ambulatory, met the usual milestones, but always weak, never star athletes, never sure what was wrong. Respiratory compromise, bulbar weakness, and neck weakness are "normal" for them. Everyone says, "What's wrong with you? Can't you stay awake/keep up/ act normal?" And we want to, but we can't. Invitae may finally have pointed us in the right direction, although even Invitae were very unwilling to acknowledge that the VUS might mean something, and they strongly recommended "no further testing." My mother died without any genetic testing whatsoever. I wish I could have given her the answers she was seeking, but hopefully my generation and those that follow will have the help she missed.
Hi, I'm a 22 y old with congenital myopathy. I did fine for all those years apart from the congenital defects but recently for the past two years I've had weakness, can you let me know the prognosis for this? If possible, then get in touch it'll be of great help to me. Thank you!