Autosomal recessive ataxia due to ubiquinone deficiency is a rare genetic disorder caused by a deficiency of the enzyme coenzyme Q10 (ubiquinone). This disorder is characterized by progressive ataxia (lack of muscle coordination) and other neurological symptoms, such as difficulty speaking, swallowing, and walking. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. Treatment is supportive and may include physical therapy, speech therapy, and medications to help manage symptoms.

The symptoms of Autosomal recessive Ataxia due to ubiquinone deficiency include:

-Loss of coordination and balance
-Difficulty walking
-Impaired speech
-Difficulty swallowing
-Muscle weakness
-Loss of sensation in the extremities
-Impaired vision
-Seizures
-Mental retardation
-Developmental delays
-Hearing loss
-Heart problems
-Liver and kidney dysfunction

1. Mutations in the PDSS2 gene: This gene provides instructions for making an enzyme called ubiquinone-2 (CoQ2) synthase, which is involved in the production of ubiquinone (also known as coenzyme Q10 or CoQ10). Mutations in this gene can lead to a deficiency of ubiquinone, which can cause autosomal recessive ataxia.

2. Mutations in the COQ2 gene: This gene provides instructions for making an enzyme called ubiquinone-2 (CoQ2) oxidase, which is involved in the production of ubiquinone. Mutations in this gene can lead to a deficiency of ubiquinone, which can cause autosomal recessive ataxia.

3. Mutations in the COQ6 gene: This gene provides instructions for

1. Dietary supplementation with coenzyme Q10 (CoQ10)
2. Vitamin E supplementation
3. Physical therapy
4. Occupational therapy
5. Speech therapy
6. Assistive devices
7. Medications to reduce muscle spasms
8. Surgery to correct skeletal deformities
9. Genetic counseling

1. Consanguinity (close relatives having children together)
2. Ethnicity (more common in certain ethnic groups)
3. Family history of the disorder
4. Deficiency of the enzyme CoQ10 (ubiquinone)
5. Mutations in the PDSS2 gene

At this time, there is no known cure for autosomal recessive ataxia due to ubiquinone deficiency. However, there are medications that can help manage the symptoms of the condition. These include medications to help with muscle spasms, balance, and coordination, as well as medications to help with fatigue and depression. Additionally, physical and occupational therapy can help improve mobility and coordination.