Central congenital hypotonia: what is the first genetic test of choice?

Background: Hypotonia is a frequent neurological manifestation with numerous etiologies, but recognizing the cause challenge. First, it's necessary to differentiate hypotonia as peripheral, central or mixed. Signs of are normo/hyperreflexia, developmental delay, cognitive delay and/or epileptic seizures associated and normal creatine phosphokinase (CPK). After ruling out environmental risk factors, genetic causes should be investigated. Brazil lacks epidemiological studies on these diseases. One factors that may influence difficulty perform specific biochemical dosage testing due high cost access in public health network.