My ds(5) has mobility issues - won’t walk for long, can’t put one foot on each stair, struggles to jump, can’t keep up with peers, positive gowers sign.
He was seen by paediatrician 6 months ago, had chromosome testing aswell as general bloods and testing to DMD. All came back fine. Physio gave us some exercises to do, said he is hypermobile, paediatrician said he has mild hypertonia and couldn’t elicit a response from reflexes.
Now her plan is to refer him to genetics. What sort of things could they be looking for?