Autosomal recessive progressive external ophthalmoplegia (AR-PEO) is a rare genetic disorder that affects the muscles that control eye movement. It is characterized by progressive weakness and paralysis of the muscles that control eye movement, resulting in drooping eyelids, double vision, and difficulty looking up and down. It is caused by mutations in the mitochondrial DNA, which is passed down from the mother. Treatment is focused on managing the symptoms, and there is no known cure.

The symptoms of Autosomal recessive progressive external ophthalmoplegia (AR-PEO) include:

-Gradual onset of ptosis (drooping of the eyelids)
-Difficulty moving the eyes in all directions
-Double vision
-Loss of vision
-Muscle Weakness in the face and neck
-Difficulty speaking
-Difficulty swallowing
-Fatigue
-Muscle cramps
-Difficulty breathing
-Heart palpitations
-Loss of balance and coordination

Autosomal recessive progressive external ophthalmoplegia (AR-PEO) is a rare genetic disorder caused by mutations in one of several genes. The most common cause is a mutation in the mitochondrial DNA-encoded gene POLG. Other genes associated with AR-PEO include ANT1, C10orf2, RRM2B, and Twinkle. Mutations in these genes can lead to a decrease in the production of proteins that are essential for the proper functioning of the mitochondria, which are the energy-producing structures in cells. This can lead to a decrease in energy production, resulting in the symptoms of AR-PEO.

1. Mitochondrial replacement therapy: This involves replacing the defective mitochondrial DNA with healthy mitochondrial DNA from a donor.

2. Coenzyme Q10 supplementation: This is a supplement that helps to increase the amount of energy produced by the mitochondria.

3. Antioxidant therapy: This involves taking supplements that help to reduce oxidative stress in the body.

4. Physical therapy: This helps to improve muscle strength and coordination.

5. Surgery: In some cases, surgery may be necessary to correct any structural abnormalities in the eye.

6. Gene therapy: This involves introducing a healthy gene into the cells to replace the defective gene.

1. Inherited genetic mutations in the mitochondrial DNA
2. Mutations in the POLG gene
3. Mutations in the C10ORF2 gene
4. Mutations in the RRM2B gene
5. Mutations in the ANT1 gene
6. Mutations in the OPA1 gene
7. Mutations in the Twinkle gene
8. Mutations in the SLC25A4 gene
9. Mutations in the C12ORF65 gene
10. Mutations in the C20ORF7 gene
11. Mutations in the C19ORF12 gene
12. Mutations in the C19ORF60 gene
13. Mutations in the C19ORF66 gene
14. Mutations in the C19ORF67 gene
15. Mutations in

There is no cure for autosomal recessive progressive external ophthalmoplegia (ARPEO). However, there are medications that can help manage the symptoms. These include medications to help with muscle weakness, such as acetazolamide, and medications to help with fatigue, such as modafinil. Additionally, physical therapy and occupational therapy can help with muscle weakness and fatigue.