About Congenital cerebellar ataxia due to RNU12 mutation

What is Congenital cerebellar ataxi Due to RNU12 mutation?

Congenital cerebellar ataxia due to RNU12 mutation is a rare genetic disorder caused by a mutation in the RNU12 gene. This mutation affects the development of the cerebellum, a part of the brain that is responsible for coordination and balance. People with this disorder may experience difficulty with coordination, balance, and movement, as well as intellectual disability, seizures, and vision and hearing problems.

What are the symptoms of Congenital cerebellar ataxi Due to RNU12 mutation?

The symptoms of Congenital cerebellar Ataxia due to RNU12 mutation can vary depending on the severity of the mutation. Generally, symptoms may include:

- Poor coordination and balance
- Abnormal gait
- Muscle weakness
- Speech difficulties
- Difficulty with fine motor skills
- Abnormal eye movements
- Abnormal reflexes
- Intellectual disability
- Seizures
- Abnormal breathing patterns
- Abnormal posture
- Abnormal muscle tone

What are the causes of Congenital cerebellar ataxi Due to RNU12 mutation?

Congenital cerebellar ataxia due to RNU12 mutation is caused by a mutation in the RNU12 gene. This gene is responsible for the production of a protein called RNU12, which is involved in the regulation of gene expression in the brain. Mutations in this gene can lead to a variety of neurological disorders, including cerebellar ataxia. Symptoms of this condition include difficulty with coordination, balance, and speech. Other symptoms may include seizures, intellectual disability, and vision problems.

What are the treatments for Congenital cerebellar ataxi Due to RNU12 mutation?

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 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 seizures.

5. Surgery: Surgery may be recommended in some cases to correct structural abnormalities in the brain or spinal cord.

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

What are the risk factors for Congenital cerebellar ataxi Due to RNU12 mutation?

1. Family history of Congenital Cerebellar Ataxia due to RNU12 mutation
2. Maternal exposure to certain environmental toxins
3. Maternal use of certain medications during pregnancy
4. Maternal infection during pregnancy
5. Maternal age over 35
6. Low birth weight
7. Premature birth

Is there a cure/medications for Congenital cerebellar ataxi Due to RNU12 mutation?

At this time, there is no known cure for congenital cerebellar ataxia due to RNU12 mutation. However, there are medications that can help manage the symptoms of the condition. These include medications to help control muscle spasms, reduce tremors, and improve coordination. Physical and occupational therapy can also help improve coordination and balance.