Hey,

Both should probably have a brain MRI, karyotype, methylation PCR
(Prader-Willi).  I'd only perform the DM1/2 testing for myotonic
dystrophy if there is evidence of facial weakness (severe feeding
difficulties, airway problems with pooled secretions, failure to change
facial expression, etc.)  If the infants have DTR's (deep tendon
reflexes), forget the SMA testing.  Both of the kids need to be seen by
a peds neurologist and/or geneticist.  Additional studies would include
a NCV/EMG and muscle biopsy; but those depend on the initial evaluation
results.  I hope that this helps.  Later...

Jerry
 

-----Original Message-----
From: Communication for the Heartland Regional Genetics Group
[mailto:[log in to unmask]] On Behalf Of Troxell, Robin M.
Sent: Wednesday, April 04, 2007 1:28 PM
To: [log in to unmask]
Subject: Re: testing algorithm?

Have two newborns in the NICU with hypotonia, one with arthrogryposis.
I thought I had a list for at least hypotonia (like, first line do SMA,
myotonic, PWS, if normal do....etc.)

________________________________

From: Communication for the Heartland Regional Genetics Group on behalf
of Gorski, Jerome L.
Sent: Wed 04-Apr-07 1:16 PM
To: [log in to unmask]
Subject: Re: testing algorithm?



Hi Robin,

Your question happens to encompass most of pediatrics and all of
pediatric neurology.  This is probably too complex a question to reduce
to an algorithm.  What's the why behind the question?

Jerry

-----Original Message-----
From: Communication for the Heartland Regional Genetics Group
[mailto:[log in to unmask]] On Behalf Of Troxell, Robin M.
Sent: Wednesday, April 04, 2007 1:04 PM
To: [log in to unmask]
Subject: testing algorithm?

Hello -
I used to have a testing algorithm for both newborn hypotonia and
arthrogryposis workup (sort of a decision tree/order of testing chart).
I can't seem to find either - does anyone else have one or know what I
am talking about?

Thanks!
Robin
************************************
Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health Mercy St. John's
Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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