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:

France Belgium Spain Luxembourg Switzerland Rest of the world TOTAL
 
Adrenoleukodystrophy (ALD) 195 13 61 2 7 278
Adrenomyeloneuropathy (AMN) 107 2  19 2 128
Metachromatic leukodystrophy (MLD) 124 11 21 2 6 164
Pelizaeus-Merzbacher disease (PMD) 60 3 21 1 3 2 90
Undetermined leukodystrophies 164 8 20 1 3 10 206
CACH syndrome 15 7 2 24
Alexander disease 16 2  4 1 2 2 27
Krabbe disease 24 2  5 3 34
Canavan disease 8 1 4  2 15
Zellweger syndrome 2 3 1 6
Refsum disease 8 8
Myelin lack or delay 18 2  8 28
Aicardi-Goutières syndrome 13  2 15
TOTAL 754
44 175 3 12 35 1023

 

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.

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