About NARP syndrome

What is NARP syndrome?

NARP syndrome (Neuropathy, Ataxia, and Retinitis Pigmentosa) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the mitochondrial ATPase 6 gene. Symptoms of NARP syndrome include muscle weakness, poor coordination, vision loss, hearing loss, and seizures.

What are the symptoms of NARP syndrome?

The symptoms of NARP syndrome vary from person to person, but may include:

-Developmental delay
-Seizures
-Muscle weakness
-Lack of coordination
-Poor vision
-Hearing loss
-Feeding difficulties
-Growth delays
-Heart defects
-Kidney problems
-Liver problems
-Gastrointestinal problems
-Skin abnormalities
-Skeletal abnormalities
-Neurological problems

What are the causes of NARP syndrome?

NARP syndrome is caused by a mutation in the mitochondrial ATPase 6 gene. This gene is responsible for the production of ATP, the energy molecule used by cells. The mutation causes a decrease in the production of ATP, leading to the symptoms of NARP syndrome.

What are the treatments for NARP syndrome?

The primary treatment for NARP syndrome is to manage the symptoms. This may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle weakness, seizures, and other symptoms. In some cases, surgery may be recommended to help with certain symptoms. Additionally, a high-fat, low-carbohydrate diet may be recommended to help manage the metabolic issues associated with NARP syndrome.

What are the risk factors for NARP syndrome?

The primary risk factor for NARP syndrome is having a parent who carries a mutated mitochondrial DNA gene. Other risk factors include having a family history of NARP syndrome, being of Native American or Hispanic descent, and having a mitochondrial disorder.

Is there a cure/medications for NARP syndrome?

At this time, there is no cure for NARP syndrome. However, medications can be used to help manage the symptoms. These medications may include anticonvulsants, muscle relaxants, and medications to help with movement and coordination. Additionally, physical and occupational therapy can help improve muscle strength and coordination.