Re: CMT2D and Silver Syndrome

[Guest guest]

Thank you Gretchen, for that info on dHMNv and SS.

Thats exactly what our 13yo son Ben was diagnosed with - the N88S

mutation in the BSCL2 gene. He has advanced hand atrophy, and we don't

really know how or if it will progress in his legs. We have all had

the Nerve Conduction test, and been examined and results show that I

have weakness, slight atrophy and nerve readings that mean I also have

this disorder. (Ben reminds me often that he was the 1st in Australia,

lol) My symptoms are nowhere near as advanced as Ben's. Our other two

children 14yo & 16yo appear to be ok at this stage. Genetic testing

for them will be done as they get older, if they choose to. As it is

so rare, any updated info I read is so great to see.

Thanks again for all of your research that you post regularly.

.