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Friedreich's Ataxia (FA)
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
