Friedrich's ataxia 
Author Message
 Friedrich's ataxia

Recently a cousin (my mother's mother's sister's son) died from
Friedrich's ataxia. I believe this is a genetic disease caused by
a chromosomal defect. What is the probability of inheriting it?
Are hospitals equipped to test for it? What is the expense?
Thanks.


Mon, 19 Apr 1993 20:11:00 GMT
 Friedrich's ataxia

Quote:
>Recently a cousin (my mother's mother's sister's son) died from
>Friedrich's ataxia. I believe this is a genetic disease caused by
>a chromosomal defect. What is the probability of inheriting it?
>Are hospitals equipped to test for it? What is the expense?
>Thanks.

Friedreich's Ataxia is a form of spinocerebellar degeneration which
is inherited in an autosomal recessive pattern.  That means that,
like blue eyes, you have to receive a gene for FA from both father
and mother.  So, as a relative of the proponent, you may have a
bad gene, but unless your mate also has one, your children will be
ok, although some may be carriers.  If two carriers mate, 1/4 of
the offspring will have the disease, 1/2 will be carriers, and 1/4
free of the gene on average (this of course is statistical.  One can always
throw 4 heads in a row if you are unlucky).  I don't believe there
is currently a test for carriers.  Affected individuals are obvious
by puberty in most cases.  One more caveat: Friedreich's is often
overdiagnosed.  I have seen autosomal {*filter*} varieties of OPCA
which were called Friedreich's by their LMDs.  In these cases,
50% of offspring are affected.  Make sure a real neurologist has seen the
patient.  Oh, I almost forgot, there is no treatment, so early diagnosis
has only genetic counselling value.


Mon, 19 Apr 1993 14:48:00 GMT
 Friedrich's ataxia

Quote:
>  I don't believe there
>is currently a test for carriers.

No sure test, but there can be clues.  Carriers sometimes exhibit
highly muted forms of some of the FA symptoms, particularly, I think,
for the orthopedic symtoms.  Example: where the ankles of an FA victim
often turn inward, sometimes enough to eventually require surgical
severing of the inside tendons, a related carrier may exhibit just a
tendency to wear out the outer edge of the soles of his/her shoes.

Quote:
>One more caveat: Friedreich's is often
>overdiagnosed.

And the real thing is extremely rare.  A local physiatrist, head of a
hospital specializing in the care of handicapped people, told me
shortly before retiring that he had only seen 3 cases in his career.
I've heard that there are more board certified neurologists than there
are FA victims.
--
{*filter*} St.Peters, GE Corporate R&D, Schenectady, NY



Mon, 19 Apr 1993 22:41:00 GMT
 
 [ 3 post ] 

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