How do you reach a diagnosis for a muscular dystrophy when your mutation is the first one documented?There’s a first for everything but I’m feeling really lost. Without any data to go off of how do I find out what my diagnosis is?
Muscular Dystrophies (MD) & Other Myopathies
Well, my doctor did a sonogram on my legs at first cause that's where I'm weakest. She found white patches on my muscles and sent me to a neurologist who sent me for nerve testing (pretty painful smh). Then I was sent for a patch test. After that is when the neurologist diagnosed me with Pompe Disease, which is a very rare form of muscular dystrophy. I was born with it but the onset was only after I lost over 200 lbs smh Good luck!
Due to my symptoms and genetic testing is how I was diagnosed
And of course a whole lot of other tests and years of suffering I just mentioned what work for me
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