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MG-like symptoms turned out to be Chiari malformation

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Old 11-29-2019, 09:16 AM   #1
Stellatum
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Join Date: Feb 2010
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Default MG-like symptoms turned out to be Chiari malformation

I post this here because I know a lot of people come to this forum looking for leads on a diagnosis for mysterious neurological symptoms.

My 23-year-old daughter has been having alarming symptoms for over a year, specifically trouble swallowing, muscle weakness, and bad balance. Because I have seronegative MG, it's been on the radar, though she also has symptoms that don't fit in with MG, like chest pain, heart racing, and black-outs.

After many specialists followed many dead ends, I brought her to her old pediatrician, a genius of a doctor, who said it looks like Chiari malformation. We're waiting on the MRI to confirm, but it seems like a slam-dunk to me. My daughter was born with heart defects and mild spinal deformities as well, and now when I look at her I can see that her skull is small and somewhat misshapen--her ears sit very low and her jaw is narrow. She has an elfin heart-shaped face.

Chiari malformation is a (usually) congenital structural defect of the skull that causes the brain to extend into the spinal canal. It's common for one type not to cause symptoms until adulthood. It is easy to diagnose by MRI, and should be considered for someone who has balance and swallowing issues, especially--but not necessarily--accompanied by headaches.

Abby
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