FRIDAY, March 9 (HealthDay News) -- The first gene linked to an
often painful neck disorder has been identified by researchers.
Adult-onset primary cervical dystonia, which is characterized by
involuntary twisting of the neck, occurs in about 30 of every
100,000 people, previous research has reported.
In this new study, researchers conducted a genetic analysis of a
patient with the condition, his identical twin whose neck also
twisted and family members, some of whom also had the disorder. The
investigators pinpointed a mutation in the CIZ1 gene, which
produces a protein expressed in certain nerve cells in the brain
and appears to be involved in cell cycle activities.
However, the researchers did not identify the cellular mechanism
associated with cervical dystonia.
The study findings were released online in advance of
publication in an upcoming print issue of the
Annals of Neurology.
While the researchers believe that CIZ1 is one genetic cause of
the disorder, it's likely that other genes linked to cervical
dystonia will be found, according to Dr. Ryan Uitti, a neurologist
at the Mayo Clinic in Jacksonville, Fla.
There are a number of treatments for cervical dystonia. The most
common is botulinum toxin injections, which incapacitate the nerve
in the affected muscle and eliminate chronic pain and muscle
pulling/contraction.
But some people with the condition don't realize that it is
unusual and that they should seek medical help, Uitti noted.
"They think they slept wrong at some point, or, because the twisting might straighten out with another maneuver, such as walking backwards, they might actually [not be taken seriously]," Uitti said in a Mayo Clinic news release.
More information
We Move has more about
cervical dystonia.