Medical Minute: Fatal Fragile X

It looks like a sobriety check, but Scott Lorigan is being tested for a condition known as Fxtas.

Scott says, "A lack of balance, and I noticed some short term memory issues."

It was affecting his work.

Scott adds, "I tended to not remember discussions I might have had with staff about a project."

Fxtas is a progressive, neurological condition. Doctors at the University of California's Mind Institute discovered it in 2001.

Dr. Randi Hagerman says, "The balance problems can get so severe that they may need a cane or a walker; eventually they can be bedridden, and eventually they can have problems with swallowing and choking, and eventually death."

Fxtas strikes mostly men over 50 who are carriers of a defective fragile X gene.

Randi Hagerman says, "Hundreds and thousands of individuals have died from this disorder, and it was never known what they had."

The symptoms are similar to those of Alzheimer's and Parkinson's, but there are some clear differences: patients keep their verbal skills.

Fxtax patients typically have a tremor during movement instead of while at rest. Patients with fxtax also experience depression, anxiety and hypertension.

Cognitive and blood tests or an MRI can diagnose it.

Randi Hagerman adds, "We can treat some of the symptoms of the condition, and that can make a big difference for a lot of patients."

That can make it less likely fxtax will be fatal. Doctors are now working on developing drugs to treat the condition itself.


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