Sep7

Lobster Bake Benefit - Ataxia Research

Borio's Restaurant 8891 McDonnells Parkway (off Lakeshore Rd) Cicero NY, 8891 McDonnells Parkway (off Lakeshore Rd), Cicero, NY

Benefit for Ataxia Research - A Lobster Bake at Borio's! This will be open to the public with tickets. Details to come. This is for September 7, 2019. Great food, raffles and music from The Horn Dogs! Event goes 12pm-5pm.

What is Friedreich ataxia? Friedreich ataxia (also called FA) is a rare inherited disease that causes progressive nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time.

In Friedreich ataxia nerve fibers in the spinal cord and peripheral nerves degenerate, becoming thinner. Peripheral nerves carry information from the brain to the body and from the body back to the brain, such as a message that the feet are cold or a signal to the muscles to generate movement. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart (in as many as one-third of affected individuals) and spine, and some people with the condition will also develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions).

Friedreich ataxia is caused by a defect (mutation) in a gene labeled FXN, which carries the genetic code for a protein called frataxin. Individuals who inherit two defective copies of the gene, one from each parent, will develop the disease. Although rare, Friedreich ataxia is the most common form of hereditary ataxia in the United States, affecting about 1 in every 50,000 people. Both male and female children can inherit the disorder.

The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms the person is confined to a wheelchair. Individuals may become completely incapacitated in later stages of the disease. Friedreich ataxia can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of FA live into their sixties or older.

The disorder is named after Nikolaus Friedreich, a German doctor who described the condition in the 1860s.