About Spinocerebellar ataxia type 12

What is Spinocerebellar ataxia type 12?

Spinocerebellar ataxia type 12 (SCA12) is a rare, inherited neurological disorder that affects the cerebellum, a part of the brain that controls movement and coordination. It is caused by a mutation in the PPP2R2B gene, which is responsible for producing a protein called protein phosphatase 2 regulatory subunit B. Symptoms of SCA12 include difficulty walking, balance problems, slurred speech, and difficulty with fine motor skills. In some cases, people with SCA12 may also experience seizures, depression, and cognitive decline.

What are the symptoms of Spinocerebellar ataxia type 12?

The symptoms of Spinocerebellar Ataxia type 12 (SCA12) vary from person to person, but may include:

• Unsteady gait

• Impaired coordination

• Slurred speech

• Difficulty swallowing

• Muscle weakness

• Tremors

• Loss of balance

• Abnormal eye movements

• Cognitive impairment

• Seizures

• Depression

• Anxiety

What are the causes of Spinocerebellar ataxia type 12?

Spinocerebellar ataxia type 12 (SCA12) is caused by a mutation in the PPP2R2B gene, which is responsible for producing a protein called protein phosphatase 2 regulatory subunit B. This protein is involved in the regulation of calcium levels in the brain, and when it is mutated, it can lead to an accumulation of calcium in the brain, which can cause the symptoms of SCA12.

What are the treatments for Spinocerebellar ataxia type 12?

1. Medication: Medications such as benzodiazepines, anticonvulsants, and dopamine agonists may be prescribed to help manage symptoms.

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

3. Occupational Therapy: Occupational therapy can help with activities of daily living, such as dressing, eating, and writing.

4. Speech Therapy: Speech therapy can help with communication and swallowing difficulties.

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

6. Surgery: Surgery may be recommended in some cases to help improve balance and coordination.

7. Genetic Counseling: Genetic counseling can help individuals and families understand the condition and its implications.

What are the risk factors for Spinocerebellar ataxia type 12?

1. Age: SCA12 typically affects individuals between the ages of 30 and 50.

2. Genetics: SCA12 is caused by a mutation in the ATXN12 gene.

3. Family history: Individuals with a family history of SCA12 are at an increased risk of developing the condition.

4. Ethnicity: SCA12 is more common in individuals of Ashkenazi Jewish descent.

Is there a cure/medications for Spinocerebellar ataxia type 12?

At this time, there is no cure for Spinocerebellar ataxia type 12 (SCA12). However, there are medications that can help manage the symptoms of SCA12, such as medications to reduce tremor, improve balance, and reduce muscle spasms. Additionally, physical and occupational therapy can help improve coordination and balance.