About Progressive autosomal recessive ataxia-deafness syndrome

What is Progressive autosomal recessive ataxia-deafness syndrome?

Progressive autosomal recessive ataxia-deafness syndrome is a rare genetic disorder characterized by progressive ataxia (loss of coordination) and hearing loss. It is caused by mutations in the SLC26A4 gene, which is responsible for the production of a protein involved in the development of the inner ear. Symptoms typically begin in childhood and worsen over time. Treatment is supportive and may include hearing aids, physical therapy, and speech therapy.

What are the symptoms of Progressive autosomal recessive ataxia-deafness syndrome?

The symptoms of Progressive Autosomal Recessive Ataxia-Deafness Syndrome (PARD) include:

- Progressive Ataxia (loss of coordination and balance)
- Hearing loss
- Intellectual disability
- Speech and language difficulties
- Seizures
- Vision problems
- Abnormal movements
- Muscle weakness
- Difficulty swallowing
- Abnormalities of the heart and blood vessels
- Abnormalities of the skeleton

What are the causes of Progressive autosomal recessive ataxia-deafness syndrome?

Progressive autosomal recessive ataxia-deafness syndrome is caused by mutations in the SLC26A4 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of the inner ear. Mutations in this gene lead to a decrease in the amount of the protein produced, which can cause progressive hearing loss and balance problems.

What are the treatments for Progressive autosomal recessive ataxia-deafness syndrome?

Unfortunately, there is no known cure for Progressive autosomal recessive ataxia-deafness syndrome. Treatment focuses on managing the symptoms and preventing complications. This may include physical therapy, occupational therapy, speech therapy, hearing aids, and assistive devices. Medications may also be prescribed to help manage symptoms such as seizures, muscle spasms, and pain. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

What are the risk factors for Progressive autosomal recessive ataxia-deafness syndrome?

1. Family history of Progressive autosomal recessive ataxia-deafness syndrome
2. Genetic mutations in the GJB2 gene
3. Exposure to certain environmental toxins
4. Exposure to certain medications
5. Exposure to certain infections
6. Advanced age

Is there a cure/medications for Progressive autosomal recessive ataxia-deafness syndrome?

At this time, there is no known cure for Progressive autosomal recessive ataxia-deafness syndrome. However, there are medications that can help manage the symptoms of the condition. These include medications to help with balance, coordination, and hearing loss. Additionally, physical and occupational therapy can help improve mobility and coordination.