About Leigh Syndrome

What is Leigh Syndrome?

Leigh Syndrome is a rare, inherited neurological disorder that affects the central nervous system. It is characterized by progressive loss of mental and movement abilities, and usually begins in infancy or early childhood. Symptoms may include developmental delays, muscle weakness, vision and hearing loss, seizures, and difficulty swallowing. The disorder is caused by mutations in genes that are involved in energy production in the cells of the body.

What are the symptoms of Leigh Syndrome?

The symptoms of Leigh Syndrome vary from person to person, but common symptoms include:

-Developmental delay

-Loss of previously acquired motor skills

-Loss of muscle coordination

-Muscle weakness

-Difficulty walking

-Seizures

-Feeding difficulties

-Vomiting

-Loss of appetite

-Lethargy

-Breathing difficulties

-Vision and hearing problems

-Heart and kidney problems

-Liver problems

-Growth failure

-Cognitive impairment

What are the causes of Leigh Syndrome?

Leigh Syndrome is a rare, inherited neurological disorder caused by mutations in genes that are involved in energy production in the cells of the body. The most common cause of Leigh Syndrome is mutations in the mitochondrial DNA, which is responsible for energy production in the cells. Other causes include mutations in nuclear genes, such as SURF1, LRPPRC, and COX10, which are involved in the production of proteins that are essential for mitochondrial function.

What are the treatments for Leigh Syndrome?

The treatments for Leigh Syndrome vary depending on the underlying cause. Generally, treatments focus on managing symptoms and preventing further damage to the brain. This may include medications to control seizures, physical therapy to help with movement, and nutritional support to ensure adequate caloric intake. Other treatments may include vitamin supplements, coenzyme Q10, and stem cell therapy. In some cases, a liver or kidney transplant may be necessary.

What are the risk factors for Leigh Syndrome?

The primary risk factor for Leigh Syndrome is a genetic mutation in one of several genes associated with the disorder. These genes are responsible for producing proteins that are essential for normal mitochondrial function. Other risk factors include a family history of Leigh Syndrome, maternal diabetes, and maternal exposure to certain toxins or medications during pregnancy.

Is there a cure/medications for Leigh Syndrome?

There is no cure for Leigh Syndrome, but medications can be used to manage symptoms and slow the progression of the disease. These medications may include vitamins, anticonvulsants, and medications to treat muscle weakness. Additionally, physical and occupational therapy can help improve muscle strength and coordination.