“Who can I see to diagnose my son? ”

Situation sounds very complex and I don't know the results of most of the testing. You already have 2 specialists involved and their workup is impressive. I suspect they have found a muscular dystrophy, a muscle degeneration with a genetic component). These early childhood myopathies are quite rare. Sometimes a genetic basis can be found. On other occasions it is a single family kind that hasn't been defined yet. For the latter, I would ask your specialists if Cyprus has the research facilities available. I suspect London will have such facilities. They may have sent specimens there already. I think you are in good hands. Suggest you talk to them to see how far you want to go.
My best wishes!

Sounds like some form of muscular dystrophy. I'd be surprised if they haven't told you such. You will want to get a neuromuscular specialist to look at this.

Usually the above mentioned tests should help make the diagnosis. He would benefit from seeing a neuromuscular specialist at an academic place for appropriate follow up and care.

Muscle disorders and nerve disorders come to mind with this type of presentation. This child should be evaluated by a pediatric neurologist at University Hospital.

Good morning. You seem to have had extensive work up. I can review and see your child and see if I can help. But I wonder if a University Hospital / clinic is better. Such as UCSF. Or UCDMC. Call my office. At 916-681-2226. Or email me. Thanks.

Thank you for your inquiry. We do have an Undiagnosed Diseases Program; however, it is located in Birmingham, Alabama. The link for a physician referral will be copied below if you are interested in coming to the United States for an appointment.

https://www.uab.edu/medicine/genetics/patient-care/clinical-services/undiagnosed-diseases

Kind Regards,
Kaitlin Callaway, CRNP