Type 3 CMT - found it !

[Guest guest]

,

Found what I was looking for! This is a Q and A from the MDA:

SUBJ (05/99): IS DEJERINE-SOTTAS REALLY CMT?

I've read much information about Charcot-Marie Tooth disease (CMT), but

much less about Dejerine-Sottas syndrome (DS). Is this because CMT is

much more common or because DS is just considered the type 3 form of

CMT? Have scientists actually confirmed DS as CMT Type 3? There is a DNA

test for CMT diagnosis; does it work for DS too?

REPLY from MDA: A. , M.D., MDA Clinic Director, Tulane

University Medical School, New Orleans, LA

Yes, Dejerine-Sottas syndrome (DS or DDS) is a form of CMT. There has

been some confusion in the terminology use in the CMT group of

disorders. In reality, CMT is a clinical and genetically heterogeneous

disorder. The Dejerine-Sottas syndrome or Hereditary motor and sensory

neuropathy type 3 (HMSN III), or CMT3, was originally described as an

autosomal recessive interstitial hypertrophic neuropathy of infancy. The

early onset of the symptoms, the severity of the clinical features and

the presence of the enlarged nerves suggest the diagnosis. However, the

same phenotype (clinical features) can be seen in some cases of CMT1A

and in homozygous (both parents affected) CMT1A cases. In fact, most DDS

cases tested represent de novo point mutations (new mutations) in either

Myelin Protein Zero (CMT 1B) or PMP 22 (CMT1A). Most cases represent

dominant alleles and not recessive alleles as originally described by

DDS before all genetic tests were available. The syndrome may be a

variant of CMT1A or CMT1B. My own personal opinion is that the

Dejerine-Sottas syndrome and the Roussy-Levy and other eponyms should

and will disappear soon. If your physician suspects DDS, you should be

tested for point mutations in both chromosomes 1 and 17. And dependent

on the testing already performed, you may need further tests to confirm

or rule out a diagnosis of DDS.

, interesting huh? Try searching the MDA site for more info on Type

(mdausa.org) 3 or DSS or try searching also at dogpile.com for

Dejerine-Sottas

I hope this helps! At any rate, you'll be busy reading everything! lol

~ Gretchen