Friedreich’s Ataxia

 

 

Definition — a neurological disorder that causes damage to the peripheral nerves, which carry signals from the brain and spinal cord to muscles, and relay sensations to the brain and spinal cord from the rest of the body; damage to the cerebellum, a part of the brain that helps coordinate movements; damage to the heart

Cause — defects in the gene that carries instructions for frataxin, a protein found in cellular structures called mitochondria; the result is diminished energy production in cells, including those of the nervous system and heart

Onset — typically between 10 and 15 years but has been diagnosed in people from ages 2 to 50

Symptoms — ataxia — loss of balance and coordination — affecting legs and torso; possible difficulty with speech and swallowing; muscle spasms; loss of sensation; skeletal abnormalities; cardiac abnormalities; possible diabetes or glucose intolerance

Progression — sequence and severity vary

Inheritance — autosomal recessive — inheritable through a faulty gene contributed by each parent

 

 

For more information on this and other Neuromuscular Diseases visit the MDA website

www.mdausa.org