My husband’s grandmother has Machado-Joseph disease. She is a descendant
of William Machado, from the island of Sao Miguel in Portugal.

I am trying to find out what, if anything, can be done to improve the
ataxia that is associated with the disease. She started having signs of
the disease when she reached the age of 45. She is now 69 and is on the
verge of being in a wheelchair.

I was just told that this disease is passed to children from their parents.
It is very scary for me, with a daughter that is 2 years old. My
mother-in-law has not started showing signs of the disease, but she is only
50 years old, and is in excellent physical health. She runs marathons,
etc…. My question, I guess, is: where could she be tested to find out if
she is carrying the gene for the disease. If she has it, then my husband
could have it, which would mean, my daughter could possibly have it.

The gene for Machado-Joseph disease is called SCA3 (spinocerebellar ataxia
type 3). If your mother-in-law chooses to she can have a predictive test
to determine if she has the gene.

I’ll send you a list of labs which perform genetic tests for ataxia. Genetic
counselling would be necessary for a predictive test so travel to a center
which does counselling might be needed.

Unfortunately, we don’t yet know of a treatment for ataxia but researchers are
making lots of progress in understanding the underlying cause so treatments
hopefully aren’t that many years away.