About Spinocerebellar ataxia type 17

What is Spinocerebellar ataxia type 17?

Spinocerebellar ataxia type 17 (SCA17) is a rare, inherited neurological disorder caused by a mutation in the TBP gene. It is characterized by progressive difficulty with movement, coordination, and balance. Symptoms may include difficulty walking, slurred speech, tremor, and muscle weakness. Other symptoms may include dementia, seizures, and vision problems. SCA17 is a progressive disorder, meaning that symptoms will worsen over time. Treatment is supportive and may include physical therapy, occupational therapy, speech therapy, and medications.

What are the symptoms of Spinocerebellar ataxia type 17?

The symptoms of Spinocerebellar Ataxia type 17 (SCA17) vary from person to person, but may include:

• Unsteady gait

• Loss of coordination

• Difficulty with fine motor skills

• Slurred speech

• Muscle weakness

• Tremors

• Difficulty with balance

• Abnormal eye movements

• Cognitive impairment

• Seizures

• Visual disturbances

• Hearing loss

• Fatigue

• Depression

What are the causes of Spinocerebellar ataxia type 17?

Spinocerebellar ataxia type 17 (SCA17) is caused by a mutation in the TBP gene, which is responsible for producing the protein TATA-binding protein (TBP). This protein is essential for the proper functioning of the nervous system. Mutations in the TBP gene can lead to a decrease in the amount of TBP produced, resulting in SCA17.

What are the treatments for Spinocerebellar ataxia type 17?

1. Physical therapy: Physical therapy can help improve balance, coordination, and strength.

2. Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, eating, and bathing.

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

4. Medications: Medications can help reduce symptoms such as tremor, muscle spasms, and depression.

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

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

7. Nutritional counseling: Nutritional counseling can help ensure that you are getting the proper nutrition to help manage your condition.

What are the risk factors for Spinocerebellar ataxia type 17?

1. Age: Spinocerebellar ataxia type 17 (SCA17) is a rare, inherited disorder that usually begins in adulthood, typically between the ages of 30 and 50.

2. Genetics: SCA17 is caused by a mutation in the TBP gene. This gene provides instructions for making a protein called TATA-binding protein (TBP). This protein is involved in the regulation of many genes, including those involved in the development and function of the brain and nervous system.

3. Family history: SCA17 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with a family history of SCA17 are at an increased risk of developing the disorder.

Is there a cure/medications for Spinocerebellar ataxia type 17?

At this time, there is no cure for Spinocerebellar ataxia type 17 (SCA17). However, there are medications that can help manage the symptoms of SCA17, such as medications to help with balance, coordination, and muscle control. Additionally, physical and occupational therapy can help improve mobility and coordination.