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Diagnosis is found through MRI of the brain and then DNA tests to confirm.
Neurology is the most essential specialist to see, pulmonology is important, GI is important to ensure proper nutrition when there are possible feeding issues. Cardiology if there are heart problems. Swallow studies are very helpful. EEGs are important to determine level of seizure activity. Cardiac Echocardiogram to determine heart function and check for any possible abnormalities.