Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 (SCAN3)

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 (SCAN3)

OMIM number: 618387

Comments closing date: 28/04/2025

COA7-related disorder, also known as
Spinocerebellar Ataxia with Axonal Neuropathy 3
(SCAN3), is a rare genetic condition that affects
movement and coordination. It is caused by
mutations in the COA7 gene, which is important
for energy production in cells, especially in the
brain and nerves. People with this condition
typically start showing symptoms in childhood or
early adulthood. These symptoms include balance
and coordination problems (ataxia), muscle
weakness, difficulty walking, and a loss of
sensation in the hands and feet due to nerve
damage (neuropathy). Over time, the condition
may worsen, making movement more difficult.
SCAN3 is autosomal recessive, meaning a person
must inherit a faulty gene from both parents to
develop the disorder. Since it affects the nervous
system, it can also lead to other complications,
such as difficulty speaking or swallowing. There is
no cure, but treatments like physical therapy and
supportive care can help manage symptoms and
improve quality of life. Because it is very rare,
research on SCAN3 is still ongoing.

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