What are leukodystrophies?

Word of Greek origin: leukos (white), dys – (disturbance), trophê (nutrient). This complex name refers to a group of rare orphan genetic diseases. Leukodystrophies destroy the central nervous system (brain and spinal cord) in children and adults. They affect the myelin, the white substance coating the nerves like an insulating sheath.

When leukodystrophy occurs, myelin can no longer conduct messages properly along the nerves. Either the myelin does not form, degrades, or is too abundant. Each case is different, but the consequences are always extremely serious.

For example, in France, leukodystrophies represent 160 births per year, i.e. 3 to 6 births a week.

Up to now, more than 30 diseases have been identified as leukodystrophies.

Find the list of the different types of leukodystrophies here

For more information  :

Contact the ELA association


WARNING: In no case can a diagnosis be offered over the Internet. Instead, you will be provided simple and general information which may not appear in the pages describing each leukodystrophy.


Number of cases of leukodystrophy recorded by ELA on the 27/02/2012:

FranceBelgiumSpainLuxembourgSwitzerlandRest of the worldTOTAL
Adrenoleukodystrophy (ALD)195136127278
Adrenomyeloneuropathy (AMN)1072 192128
Metachromatic leukodystrophy (MLD)124112126164
Pelizaeus-Merzbacher disease (PMD)6032113290
Undetermined leukodystrophies1648201310206
CACH syndrome157224
Alexander disease162 412227
Krabbe disease242 5334
Canavan disease814 215
Zellweger syndrome2316
Refsum disease88
Myelin lack or delay182 828
Aicardi-Goutières syndrome13 215


Number of cases recorded by ELA of leukodystrophies in France:

Cases of leukodystrophy are unfortunately higher than those shown on this page. Are recorded only patients whose pathology has been clearly identified as a leukodystrophy and who were aware of the existence of ELA.