Spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) is a rare, inherited neurological disorder characterized by progressive ataxia (lack of muscle coordination) and axonal neuropathy (nerve damage). Symptoms typically begin in childhood or adolescence and include difficulty walking, clumsiness, and poor coordination. Other symptoms may include muscle weakness, sensory loss, and difficulty speaking. SCAN2 is caused by mutations in the SETX gene and is inherited in an autosomal recessive manner. Treatment is supportive and may include physical therapy, occupational therapy, and speech therapy.

The symptoms of Spinocerebellar Ataxia with axonal neuropathy type 2 (SCAN2) can vary from person to person, but typically include:

-Gait Ataxia (unsteady, uncoordinated walking)
-Limb Ataxia (uncoordinated movements of the arms and legs)
-Dysarthria (slurred speech)
-Dysphagia (difficulty swallowing)
-Loss of sensation in the hands and feet
-Muscle weakness
-Loss of reflexes
-Impaired coordination
-Impaired balance
-Impaired fine motor skills
-Impaired vision
-Impaired hearing
-Cognitive impairment
-Depression
-Anxiety

Spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) is caused by a mutation in the gene ATXN2. This gene is responsible for producing a protein called ataxin-2, which is involved in the regulation of nerve cell communication. Mutations in this gene can lead to the production of an abnormal form of ataxin-2, which can cause damage to the axons of nerve cells, leading to the symptoms of SCAN2.

1. Physical therapy: Physical therapy can help improve balance, coordination, and strength. It can also help with activities of daily living, such as walking, dressing, and eating.

2. Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, eating, and using the bathroom. It can also help with communication and cognitive skills.

3. Speech therapy: Speech therapy can help with communication and swallowing difficulties.

4. Medications: Medications can help reduce symptoms, such as muscle spasms, tremors, and pain.

5. Surgery: Surgery may be recommended to help with certain symptoms, such as muscle spasms or tremors.

6. Assistive devices: Assistive devices, such as canes, walkers, and wheelchairs, can help with mobility.

1. Age: SCAN2 is most commonly seen in adults between the ages of 30 and 50.

2. Gender: SCAN2 is more common in males than females.

3. Family history: SCAN2 is an inherited disorder, so having a family history of the disorder increases the risk of developing it.

4. Ethnicity: SCAN2 is more common in people of European descent.

5. Genetic mutation: SCAN2 is caused by a mutation in the SPTBN2 gene. People with this mutation are at an increased risk of developing the disorder.

At this time, there is no cure for Spinocerebellar ataxia with axonal neuropathy type 2. However, medications can be used to help manage symptoms and slow the progression of the disease. These medications may include muscle relaxants, anticonvulsants, antidepressants, and anti-anxiety medications. Physical therapy, occupational therapy, and speech therapy may also be recommended to help manage symptoms.