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Atassia di Friedreich
(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
