Which specialist to see re muscle issues?

[Anonymous]

Our DS has already had a dev ped workup (dx: global developmental delays--yeah, tell me something I didn't know). We also see our reg ped, a ped endocrinologist and get PT, OT and ST. It's becoming clear to us that all of DS's issues are really centered around muscle issues--he doesn't chew well, lots of probs with expressive speech, learned to walk very late and still very wobbly. He was labeled hypotonic but we don't know anymore than that and I'm wondering if it would be worthwhile to go to KKI or CNMC for a more medical-oriented workup. Where would you start to do this? Which kind of specialist?

[Anonymous]

I'd go to Alec Hoon at KKI. He's a neurologist specializing in movement disorders. Most of what you describe as "muscle issues" are actually starting in the brain, OP. The brain controls the muscles.

[Anonymous]

Has he been worked up by a geneticist yet? I think that might be helpful to rule out a possible chromosome issue. All of the things you listed quite frankly can be very indicative of a genetic disorder. There are so many though and also so many that can not be tested for so you may not find answers in that area.
I personally think that might be a better next stop for you than a pediatric neurologist who is often the specialist who would order a muscle biopsy. I would maybe ask for a geneticist referral to KKI if I were you. Good luck.

Also, is there a particular reason you see an endo? that might shed a little more light on your situation for us.

[Anonymous]

You are looking for a pediatric physiatrist (a doctor of physical medicine). There is a long wait to get an appointment. We see Dr. Nichols who works in Baltimore at Mt Washington Pediatric Hospital. We were referred by CNMC because the wait at Children's is even longer. I think it took 6-8 months to get our first appointment.

My child has low muscle tone. Also another possibility is a geneticist.
I would go to KKI if you are having so many troubles. Maybe they can help coordinate with seeing different specialties.

[Anonymous]

OP here. A few more details. DS is 2. He has been diagnosed with hypothyroidism hence the endocrinologist. We did have a high resolution karyotype done and that came back all negative. Please suggest your neurologist/practitioner by name so I have a starting point. When I was searching myself I was finding so many recs for epilepsy specialists, which is not what we need.

[Anonymous]

I'm the poster who recommended Dr. Hoon. He is the team leader for our neurogeneticist and physiatrist at KKI as well (and orthopedist, and physical therapist and....). They all work together to come up with an approach to my child's rather complex case.

He is not the sort of neuro who specializes in epilepsy. As I said he handles more the movement disorders aspect of the neuro end.

Our physiatrist is Melissa Trovato
Our neurogeneticist is Ali Fatemi
Our orthopedist is Paul Sponsellar.