Anyone know anything about muscular dystrophy, specifically Emery-Dreifuss?

[mm22bys]

I posted last week that the neurophysiologist thought DS2 wasn't presenting as CP. I got a referral letter today from the neuro to another specialist, and it was suggested in the letter that the neurophysiologist thinks it could be an "early suggestion of Emery-Dreifuss".

I am feeling a bit floored, and wobbly. Nothing definite I know, DS2 will have to see another dr at another hospital, but I am stunned.

Anyone have any experience with this, know of good resources?

Hi mm22bys
My only experience of MD is Duchene MD, but I know the MD group (I think its MD association) were v helpful when my cousin was dx'd.

I hope you are able to get some answers.

Yep, it's only a suggestion, not all the tests have been done yet. When we first raised our concerns about DS2 back in March, I saw in a letter to the opthal or neuro that they thought he had some eye disorder. Turns out they were wrong, and it's "only" Delayed Visual Maturation.

My gut feel, from the bit of research I've done today, is that he doesn't meet the criteria - he doesn't have contractures, his creatinine kinase level is normal (a test to see if the muscles are being effected), he doesn't walk on his toe-tips (when you put him on his feet and encourage him to "walk" he walks flat-footed, in fact the physio thought on Tuesday he was "walking" really well), and he can bend his arms (elbows) really easily.

But time will tell...

It's annoying though because the neuro ten days ago told us that whatever DS2 has it's not "progressive".

How is your cousing doing?

What mixed opinions you are getting, its great that the neuro feels its not progressive.
I'm certainly no expert but I believe many forms of MD can be confirmed or ruled out with a muscle biopsy - not a nice thought I know but at least hopefully they could give you some answers quickly.
Do you know what the other hospital & Dr's specialism is?

Sadly my cousin passed away, but there is never a good outcome to Duchene MD, many other forms of MD are much less disabling with far better long term prognosis.

Do they think your ds's vision problems are all linked to MD??

Sorry to hear about your cousin.

I'll do anything to rule anything in or out! He did actually have a needle put into his upper arm and back at GOS, and the dr told us it would be less comfortable than the pads...I do know that fine needles actually don't hurt...

I still can't see anything that suggests that without a raised creatinine kinane a child will have MD, and even a raised CK level doesn't necessarily suggest MD, so it is very confusing.

The specialist's speciality (?) is neuromuscular diseases in children. He's at Hammersmith Hospital.

Noone has been able to put DS2 "together". He also has hearing problems...mostly on the left side. Nearly everyone who sees him says he is a "mystery".

Your poor ds going through all the prodding & poking & poor you!
It does sound like all the top people are on the case, sometimes they love a mystery these dr's so it may help you avoid long waiting lists for answers.
Maybe you ds is just perfectly unique

Particularly the neuro has been fantastic. He actually told us last week that they had done more testing on DS2 than perhaps they would have normally, and that it had been a good exercise for his team!

In terms of trying to find out exactly what is "up" with DS2, I can't think of anywhere I'd rather be...it is tiring for all of us though, but it's still only two months since his assessment, and we have found out so much since then....

Have you tried asking on the Hypotonia message board? It's a great site for anyone whose child has hypotonia (a symptom of MD, myopathies, connective tissue disorders, metabolic disorders, central nervous system disorders, chromosomal abnormalities, etc). Parents post on there from the US, Australia, Canada, the UK, Greece, etc, so there's loads of knowledge available on the rare conditions that cause low muscle tone and on all the tests that can be undertaken to try and find the cause, not to mention support for the people going through the process of finding out what has caused their child's problems.

messageboards.ivillage.com/iv-ppchdhypoton