Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter (CACH/VWM)
What is CACH/VWM?
Childhood ataxia with central nervous system hypomyelination or vanishing white matter (CACH/VWM) is characterized by degeneration of the nervous system, stiff muscles, and optic atrophy. It is caused by the progressive deterioration of white matter in the brain.
What are the symptoms of CACH/VWM?
Symptoms are not present at birth. The first sign is a delay in developmental milestones, like walking or crawling. Early childhood is when the symptoms begin to present. These include:
- Muscle spasticity (stiffness)
- Issues with motor skills
- Ataxia
- Deterioration of mental functioning
- Seizures
- In females, abnormal formation of the ovaries
What causes CACH/VWM?
One of five genes will be mutated in affected individuals, and they are all inherited in an autosomal recessive pattern. The EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5 genes are all necessary for making proteins throughout the body. When they are mutated, protein synthesis is difficult and results in the characteristic symptoms.
How is CACH/VWM diagnosed?
Doctors typically suspect this condition after noticing the characteristic symptoms. They will then use an MRI to scan the brain and confirm the diagnosis with genetic testing.
What are the treatments for CACH/VWM?
There is no cure for CACH/VWM, and treatment is symptomatic. Physical therapy can help with ataxia and spasticity, and anti-epileptic medication can treat seizures. Doctors also recommend preventing any infections or illnesses, monitoring for any complications, and working with a team of specialists.
