About Spinocerebellar ataxia type 14

What is Spinocerebellar ataxia type 14?

Spinocerebellar ataxia type 14 (SCA14) is a rare, inherited neurological disorder caused by a mutation in the PPP2R2B gene. It is characterized by progressive difficulty with coordination, balance, and movement. Symptoms may include difficulty walking, clumsiness, slurred speech, and difficulty with fine motor skills. Other symptoms may include tremor, muscle spasms, and difficulty with eye movements. SCA14 is a progressive disorder, meaning that symptoms will worsen over time.

What are the symptoms of Spinocerebellar ataxia type 14?

The symptoms of Spinocerebellar Ataxia type 14 (SCA14) 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

Loss of sensation in the extremities

• Loss of bladder and bowel control

• Fatigue

• Depression

• Anxiety

What are the causes of Spinocerebellar ataxia type 14?

Spinocerebellar ataxia type 14 (SCA14) is caused by a mutation in the PPP2R2B gene. This gene provides instructions for making a protein called protein phosphatase 2 regulatory subunit B. This protein is involved in the regulation of other proteins that are important for the normal functioning of nerve cells in the brain and spinal cord. Mutations in the PPP2R2B gene lead to the production of an abnormal version of the protein, which disrupts the normal functioning of nerve cells and causes the signs and symptoms of SCA14.

What are the treatments for Spinocerebellar ataxia type 14?

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 writing.

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 difficulty walking.

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

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

What are the risk factors for Spinocerebellar ataxia type 14?

1. Age: Spinocerebellar ataxia type 14 (SCA14) is a rare, autosomal dominant disorder that typically presents in adulthood.

2. Genetics: SCA14 is caused by a mutation in the CACNA1A gene, which is located on chromosome 19.

3. Family history: Individuals with a family history of SCA14 are at an increased risk of developing the disorder.

4. Gender: SCA14 is more common in males than females.

Is there a cure/medications for Spinocerebellar ataxia type 14?

At this time, there is no cure for Spinocerebellar ataxia type 14 (SCA14). However, there are medications that can help manage the symptoms of SCA14, such as medications to help with balance, coordination, and muscle control. Additionally, physical and occupational therapy can help improve coordination and balance.