Bramble Patch Academy Posted October 1, 2012 Share Posted October 1, 2012 We just got back from DDs follow-up appointment on her hand xrays. The radiologist noted "congenital myotonia" in both hands. The doctor is unfamiliar with it and was calling other doctors....but we googled it together but there are so many different types. He will do some research and get back to me. Is anyone familiar with this? I see some cases that are not scary and others are fatal...with lots in between. Quote Link to comment Share on other sites More sharing options...
PeterPan Posted October 2, 2012 Share Posted October 2, 2012 Not that I know anything about it, but are they sending you for genetic counseling? Wikipedia says this is genetic. If you're presenting a number of symptoms and trying to track everything down, a genetic counselor might be a good move. Some others have mentioned it here. Quote Link to comment Share on other sites More sharing options...
Bramble Patch Academy Posted October 3, 2012 Author Share Posted October 3, 2012 Not that I know anything about it, but are they sending you for genetic counseling? Wikipedia says this is genetic. If you're presenting a number of symptoms and trying to track everything down, a genetic counselor might be a good move. Some others have mentioned it here. The doctor hasn't called back yet with a plan of action. We did have genetics counseling when she was 3 months and they were looking for a syndrome. I am sure it will come up again. The doctor is off tomorrow so now I have to wait until Thursday. I did talk to someone who said it could look like congenital myotonia, but be sarcopenia from a perinatal stroke. It was suspected she had one but a CT scan didn't show any evidence and no mri was done. She is a mystery. Gross motor and fine motor delays, failure to thrive, sensory issues they refuse to DX, hypotonia, above average intelligence, a paralyzed left vocal cord that healed on its own, and two heart defects that have gotten better with time....Atrial Septal Defect and Pulminary Stenosis. Genetics testing was all normal. She is a great kid...i just hate going through this again. The (mis)diagnosis' started whdn she was 13 days old. Quote Link to comment Share on other sites More sharing options...
Guest Posted October 4, 2012 Share Posted October 4, 2012 Congenital myotonia (also myotonia congenita) is a genetic, neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is congenital, meaning that it is present from birth. Amongst other problems, it causes delayed relaxation of the muscles (myotonia) and rigidity. The disorder is caused by mutations in the part of an ion channel gene responsible for shutting off electrical excitation in the muscles, causing muscle fiber membranes to have an unusually exaggerated response to stimulation (hyperexcitability). Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, hypertrophy (enlargement), sluggishness of the muscles, transient weakness in some mutations, pain, and cramping. Your posts have been reported as SPAM. Quoting Wikipedia and other websites, passing their comments as your own, did not let you fly under the radar for long :angry:. Quote Link to comment Share on other sites More sharing options...
Guest Posted October 5, 2012 Share Posted October 5, 2012 (edited) Bramble Patch Academy, my apologies! I did not read your original posts when I posted previously :(. I know nothing about Congenital Myotonia but wanted to send some :grouphug: to you and your little girl. You will be in my prayers. Edited October 5, 2012 by Guest Quote Link to comment Share on other sites More sharing options...
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