Rare diseases · Sign or symptom
Leukodystrophy
HP:0002415
What it means
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible.
Rare diseases that can present with this21
Common30–79%
15- Aicardi-Goutières syndrome
- Childhood-onset spasticity with hyperglycinemia
- Frontal encephalocele
- Leigh syndrome
- Metachromatic leukodystrophy, adult form
- Metachromatic leukodystrophy, juvenile form
- Metachromatic leukodystrophy, late infantile form
- Multiple mitochondrial dysfunctions syndrome type 3
- Multiple mitochondrial dysfunctions syndrome type 4
- Multiple mitochondrial dysfunctions syndrome type 5
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- Tremor-ataxia-central hypomyelination syndrome
- Wiedemann-Rautenstrauch syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Degeneration of white matter of brain
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.