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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 first and later arms and hands; possible difficulty with speech and swallowing; weakness, first in legs and then in arms and hands; muscle spasticity (tightness); loss of sensation; skeletal abnormalities; cardiac abnormalities; possible diabetes or glucose intolerance
Progression - slow; sequence and severity vary
Inheritance - autosomal recessive - inherited through a faulty gene contributed by each parent
Facts About Friedreich's Ataxia
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