About Spinocerebellar ataxia type 28

What is Spinocerebellar ataxia type 28?

Spinocerebellar ataxia type 28 (SCA28) is a rare, inherited neurological disorder that affects the cerebellum, a part of the brain that controls movement and coordination. It is characterized by progressive difficulty with balance, coordination, and movement. Symptoms may include difficulty walking, clumsiness, and slurred speech. Other symptoms may include muscle twitching, tremor, and difficulty with fine motor skills. SCA28 is caused by a mutation in the ATXN2 gene and is inherited in an autosomal dominant pattern.

What are the symptoms of Spinocerebellar ataxia type 28?

The symptoms of Spinocerebellar Ataxia type 28 (SCA28) vary from person to person, but may include:

• Unsteady gait

• Impaired coordination

• Difficulty with fine motor skills

• Slurred speech

• Muscle weakness

• Tremors

• Loss of balance

• Difficulty with eye movements

• Cognitive impairment

• Fatigue

• Depression

• Anxiety

What are the causes of Spinocerebellar ataxia type 28?

Spinocerebellar ataxia type 28 (SCA28) is a rare, inherited neurological disorder caused by a mutation in the ATXN2 gene. This gene provides instructions for making a protein called ataxin-2, which is involved in the development and maintenance of nerve cells in the brain and spinal cord. Mutations in the ATXN2 gene lead to the production of an abnormally short, nonfunctional version of the ataxin-2 protein, which disrupts the normal functioning of nerve cells and causes the signs and symptoms of SCA28.

What are the treatments for Spinocerebellar ataxia type 28?

At present, there is no known cure for Spinocerebellar ataxia type 28 (SCA28). Treatment is focused on managing symptoms and preventing complications. Treatment options may include:

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, bathing, and eating.

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

4. Medications: Medications can help reduce tremors and improve coordination.

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

6. Surgery: Surgery may be recommended to correct certain physical deformities caused by SCA28.

What are the risk factors for Spinocerebellar ataxia type 28?

1. Age: Spinocerebellar ataxia type 28 (SCA28) is a rare, autosomal dominant disorder that typically presents in adulthood.

2. Genetics: SCA28 is caused by a mutation in the ATXN2 gene, which is inherited in an autosomal dominant manner.

3. Family history: Individuals with a family history of SCA28 are at an increased risk of developing the disorder.

4. Environmental factors: Exposure to certain environmental toxins, such as lead, may increase the risk of developing SCA28.

Is there a cure/medications for Spinocerebellar ataxia type 28?

At this time, there is no known cure for Spinocerebellar ataxia type 28. However, there are medications that can help manage the symptoms of the condition. These include medications to help with balance, coordination, and muscle control, as well as medications to help with anxiety and depression. Additionally, physical and occupational therapy can help improve balance and coordination.