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Spinobellar Degeneration Any information reguarding this disease and any updates

gacton at softdisk.com gacton at softdisk.com
Mon May 5 22:11:21 EST 1997


In article <UPMAIL01.199705021645050195 at msn.com>,
  Aleeta at MSN.COM ("Aleeta Rogers") wrote:
>
> My mother in law has just been diagnosed as having Spinobellar
> Degeneration.

It would help when you post to this and the clinical newsgroups if you
give her present age, age of onset, where the symptoms are (legs
only? bulbar involvement?) and what they are (weakness?  unsteadiness?)
    I have a cousin who has been symptomatic for about 20 years and
is close to permanent wheelchair status.  She has done well for
someone with a fairly early onset (early 50s).  What has helped the
most is intensive physical therapy, mostly concentrated on
strengthening her leg muscles.
    There is a group at Minnesota Med School that performs the DNA
assay for the triplet repeat that accounts for most of the cases.  I
hve had them look at her DNA, and it's negative.  There is possible
consanguinity, so she may represent a unique recessive gene, and
therefore the particulars of her case may not generalize to other
patients.
    She has had trials of a vast number of drugs, and the only one that
reliably provides some relief is an old long-acting barbiturate whose
name I forget.  There is some rationale for this in that the barbiturate
site is part of the GABA receptor and this is found on the cells
that selectively degenerate (Purkinje cells).  She has used it the past
to get through a social event or shopping trip that required long
standing (her first and major complaint).  She uses it sparingly to
avoid drowsiness and habituation.  I think valproate has helped at
times, as well.  The effect of drugs on her symptoms isn't impressive
to observers, but it is good for her morale to have a feeling of
control.
    In summary, you might want to consider contacting Minnesota to get
a genetic diagnosis and barbiturates might be worth a trial, but the
case in which they seem minimally effective may be one of a kind.
    --George Acton

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