| Name |
Leukodystrophy |
| Related to/Also known as |
- Adrenoleukodystrophy (ALD)
- Lorenzo's Oil disease
|
Symptoms of Leukodystrophy
|
The Leukodystrophies are a group of genetic disorders, which are generally diagnosed in childhood. Caused by a breakdown of the myelin sheath surrounding nerve cells in the brain. There are several forms, and the most common symptoms are a slowdown in mental and physical development |
| Types |
- Metachromatic leukodystrophy (MLD)
- Refsum's disease
- Adrenoleukodysrophy (ALD)
- Krabbe's disease
- Phenylketonuria
- Canavan disease
- Pelizaeus-Merzbacher disease
- Alexander's disease
- Cerebrotendinous Zxanthomatosis (CTX)
- Juvenile HD (also called Westphal variant or akinetic-rigid HD) develops before the age of 20, progresses rapidly, and produces muscle rigidity in which the patient moves little, if at all (akinesia).
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| Useful national contacts |
Metabolic Support UK (formerly Climb)
 www.metabolicsupportuk.org
Tel: 0845 241 2173
Alex, the Leukodystrophy Charity
www.alextlc.org
Tel: 020 7701 4388
This email address is being protected from spambots. You need JavaScript enabled to view it.
MLD Support Association UK
www.mldsupportuk.org.uk
Tel: 07977 440809
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| Children & young people |
INHERITED METABOLIC DISEASE AND CORONAVIRUS (COVID-19) Advice for patients / parents / guardians (Metabolic Support UK)
INHERITED METABOLIC DISEASE AND CORONAVIRUS (COVID-19)
NextGen (Metabolic Support UK)
Support for young people (aged 12-18) living with an Inherited Metabolic Disorder
www.metabolicsupportuk.org/ages-12-18 |
| Online resources |
Guidance on shielding and protecting people defined on medical grounds as extremely vulnerable from COVID-19 (GOV.UK)
www.gov.uk/government/publications/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19
Adrenoleukodystrophy ('Contact' charity for families with disablllled children)
https://tinyurl.com/yx4qzur4
Leukodystrophy (U.S. National Organization for Rare Disorders, NORD)
http://tinyurl.com/yywunvza
Leukodystrophy Information Page (U.S. National Institute of Neurological Disorders and Stroke)
https://tinyurl.com/ybwu5mys
Leukodystrophies (Medline Plus)
http://tinyurl.com/y5gay5zq
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| Our resources |
 The library at The Brain Charity has a range of resources on Leukodystrohy and on a wide range of disability-related issues.
Visit our library or get in touch to read the MLD Support Association's booklet "Living with MLD".
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