Leber plus disease is a rare inherited disorder that affects the nervous system. It is caused by mutations in the POLG gene, which is responsible for producing an enzyme called DNA polymerase gamma. This enzyme is important for the replication and repair of mitochondrial DNA. Symptoms of Leber plus disease can include vision loss, hearing loss, seizures, muscle weakness, and developmental delays.

The symptoms of Leber plus disease vary depending on the type of mutation present, but may include:

-Vision loss
-Hearing loss
-Developmental delays
-Seizures
-Muscle weakness
-Loss of coordination
-Difficulty walking
-Difficulty speaking
-Difficulty swallowing
-Behavioral problems
-Learning disabilities
-Heart problems
-Liver problems
-Kidney problems
-Gastrointestinal problems
-Skin problems
-Endocrine problems

Leber plus disease is caused by mutations in the POLG gene. This gene provides instructions for making an enzyme called DNA polymerase gamma, which is involved in copying DNA during cell division. Mutations in the POLG gene lead to a decrease in the activity of this enzyme, which can cause a buildup of toxic molecules in the mitochondria (the energy-producing structures in cells). This buildup can damage the mitochondria and lead to the signs and symptoms of Leber plus disease.

The treatments for Leber plus disease vary depending on the individual and the severity of the condition. Generally, treatments may include:

1. Dietary modifications: Eating a healthy, balanced diet can help reduce the symptoms of Leber plus disease.

2. Medications: Certain medications, such as anticonvulsants, can help reduce the severity of seizures and other symptoms.

3. Surgery: In some cases, surgery may be necessary to remove part of the brain that is affected by the disease.

4. Physical therapy: Physical therapy can help improve mobility and strength.

5. Occupational therapy: Occupational therapy can help improve daily functioning and independence.

6. Speech therapy: Speech therapy can help improve communication skills.

7. Genetic counseling: Genetic counseling can help individuals and families understand the condition and its

1. Family history of Leber plus disease
2. Being of Ashkenazi Jewish descent
3. Having a mutation in the POLG gene
4. Exposure to certain environmental toxins, such as certain medications, alcohol, and certain chemicals
5. Having a mitochondrial disorder
6. Having a history of certain medical conditions, such as diabetes, stroke, or heart disease
7. Being a male

There is no cure for Leber plus disease, but medications can be used to manage symptoms and slow the progression of the disease. These medications include anticonvulsants, anti-inflammatory drugs, and vitamins. In some cases, a liver transplant may be recommended.