Spinocerebellar ataxia with axonal neuropathy (SCAN1) is a brain disorder and belongs to a group of disorders called spinocerebellar ataxias (SCAs). Many SCAs are caused by damage to the cerebellum, which is the part of the brain that controls movement. The main characteristic of SCAs is impaired muscle coordination which gets worse over time. SCAN1 is passed down from parent to child in an autosomal recessive manner. This means a person must inherit one mutation (changed gene) from each parent in order to have symptoms.
The symptoms of SCAN1 vary. Individuals often have difficulty moving their hands and trouble speaking. Other symptoms include the loss of feeling in the arms and legs and decreased reflexes. SCAN1 can also affect sight. The disorder often causes uncontrolled movement of the eyes or “dancing eyes,” called nystagmus resulting in vision problems.
People with SCAN1 often develop peripheral neuropathy. This is when messages that go from the brain and spinal cord to the rest of the body are impaired. Peripheral neuropathy affects the hands and feet by causing burning or tingling pain. Symptoms become worse as the disorder advances and the individual may become wheelchair-dependent.
SCAN1 is difficult to diagnose. Often, a doctor uses the individual’s symptoms, family history, and magnetic resonance imaging (MRI) to make a diagnosis. Diagnosis can only be confirmed after death. Individuals diagnosed with SCAN 1 should avoid exposure to chemicals that damage DNA.
Generally, treatment focuses on helping the symptoms. Physical therapy to help with movement and balance is often used by people with SCAN1. Braces, wheelchairs, and walking aids are also used to help those with SCAN1 live an active lifestyle. If you or a family member has been diagnosed with SCAN1, talk to your doctor about the most current treatment options.