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 :
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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