NKX6-2-related autosomal recessive hypomyelinating leukodystrophy (ARHL) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the NKX6-2 gene, which is responsible for the production of a protein that helps regulate the development of myelin, the protective coating that surrounds nerve cells. People with ARHL experience a range of neurological symptoms, including developmental delays, muscle weakness, vision and hearing loss, and seizures. There is currently no cure for ARHL, but treatments are available to help manage symptoms.

The symptoms of NKX6-2-related autosomal recessive hypomyelinating leukodystrophy vary from person to person, but may include:

- Delayed development
- Poor muscle tone
- Seizures
- Vision and hearing loss
- Difficulty walking
- Intellectual disability
- Feeding difficulties
- Abnormal movements
- Abnormal breathing patterns
- Abnormal sleep patterns
- Abnormal reflexes
- Abnormal EEGs
- Abnormal MRI scans

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy is caused by mutations in the NKX6-2 gene. This gene provides instructions for making a protein that is involved in the development of the central nervous system. Mutations in this gene lead to a decrease in the amount of the NKX6-2 protein, which disrupts the normal development of the brain and spinal cord.

Currently, there is no known cure for NKX6-2-related autosomal recessive hypomyelinating leukodystrophy. Treatment focuses on managing symptoms and preventing complications. This may include physical therapy, occupational therapy, speech therapy, and nutritional support. Medications may also be prescribed to help manage seizures, muscle spasms, and other symptoms. In some cases, surgery may be recommended to help improve mobility.

1. Having a family history of NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
2. Being of Ashkenazi Jewish descent
3. Having two copies of a mutated NKX6-2 gene
4. Being exposed to certain environmental toxins or radiation

At this time, there is no cure or specific medications for NKX6-2-related autosomal recessive hypomyelinating leukodystrophy. Treatment is focused on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and nutritional support.