Leukodystrophies are a rare group of inherited diseases that affect the white matter of the brain and spinal cord. The white matter is the inner layer of the brain and is made up of myelin and glia cells. Myelin provides a protective covering to the nerves in the brain, spine and peripheral nerves. People with leukodystrophies have an abnormal gene, resulting in the loss of proteins or enzymes. The missing proteins or enzymes cause abnormal development or injury to the cells and myelin in the brain. Without myelin, the nerves cannot function properly, leading to a wide range of neurologic symptoms.
Examples of leukodystrophies include:
- Aicardi Gourtieres syndrome
- Alexander disease
- Canavan disease
- Cerebrotendinous Xanthomatosis
- Childhood ataxia and cerebral hypomyelination/Vanishing white matter disease
- GM1 gangliosidosis
- Hypomyelination with atrophy of the brainstem and cerebellum (H-ABC)
- Krabbe disease
- Megalencephalic leukodystrophy
- Metachromatic leukodystrophy
- Multiple sulfatase deficiency
- Pelizaeus Merzbacher disease
- Pol-III related disorders (4-H syndrome)
- Salla disease
- X-linked adrenoleukodystrophy
- Zellweger Spectrum disorders
There are more than 30 different leukodystrophies and many more related genetic leukoencephalopathies that may share symptoms with leukodystrophies. Symptoms can arise at any age. Common symptoms include slow development or loss of skills, decreased muscle strength, stiffness of the arms or legs, imbalance and problems with speech or feeding. Cognitive impairment, seizures, vision and hearing loss, peripheral neuropathy and endocrine problems may also be present. The rate of disease progression is variable.
Some leukodystrophies may be treated with stem cell transplant or gene therapy, while others may not have a direct treatment. However, symptom management and prevention of complications can still make a significant difference in the quality of life for patients with leukodystrophies. It is our hope that ongoing research will provide additional treatments or cures in the future.