C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (ARHML) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the C11ORF73 gene, which is responsible for producing a protein that is important for the development of myelin, the protective coating around nerve cells. Symptoms of ARHML include developmental delay, intellectual disability, seizures, and movement problems. Treatment is supportive and may include physical, occupational, and speech therapy.

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy is caused by mutations in the C11ORF73 gene. This gene is responsible for producing a protein that is essential for the normal development of the myelin sheath, which is a protective layer that surrounds nerve cells. Mutations in this gene can lead to a decrease in the production of this protein, resulting in the destruction of the myelin sheath and the development of the disorder.

Currently, there is no known cure for C11ORF73-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 two copies of the mutated C11ORF73 gene.
2. Having a family history of C11ORF73-related autosomal recessive hypomyelinating leukodystrophy.
3. Being of Ashkenazi Jewish descent.
4. Being of North African descent.
5. Being of Middle Eastern descent.
6. Being of Central Asian descent.
7. Being of South Asian descent.

At this time, there is no cure or specific medications for C11ORF73-related autosomal recessive hypomyelinating leukodystrophy. Treatment is supportive and focuses on managing symptoms and preventing complications. This may include physical therapy, occupational therapy, speech therapy, and nutritional support.