What this covers
Leukodystrophies are a group of genetic disorders that affect the development or upkeep of myelin, the protective covering around nerve fibres in the central nervous system. This report reviews the different types of leukodystrophy — their frequency, clinical features, symptoms and diagnosis — along with current and future treatments, to help paediatricians and other providers recognise them.
Key takeaways
- Leukodystrophies occur in at least 1 in 4,700 live births and carry significant illness and a raised risk of early death.
- They can appear at any age from infancy to adulthood, with symptoms ranging from developmental delay to seizures and spasticity, and diagnosis rests on a combination of history, examination, imaging, laboratory and genetic testing.
- Although few cures exist, there are real opportunities to improve care and patient well-being, and leukodystrophy is being added to newborn screening.
Why it matters
Rapid advances in imaging, diagnosis and time-sensitive treatments make an understanding of the leukodystrophies increasingly important for everyone caring for children.
