L
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).
Useful national contacts

Metabolic Support UK (formerly Climb)
Link opens in new window www.metabolicsupportuk.org
Tel: 0845 241 2173

Alex, the Leukodystrophy Charity
Link opens in new window 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
Link opens in new window www.mldsupportuk.org.uk
Tel: 07977 440809
Children & young people

INHERITED METABOLIC DISEASE AND CORONAVIRUS (COVID-19) Advice for patients / parents / guardians (Metabolic Support UK)
Link opens in new window INHERITED METABOLIC DISEASE AND CORONAVIRUS (COVID-19)

NextGen (Metabolic Support UK)
Support for young people (aged 12-18) living with an Inherited Metabolic Disorder
Link opens in new window www.metabolicsupportuk.org/young-people

Preparing for adult life (Contact, charity for families with disabled children)
Link opens in new window https://contact.org.uk/advice-and-support/preparing-for-adult-life

 
Online resources

The Brain Changer Arts Project (The Brain Charity)

Guidance on shielding and protecting people defined on medical grounds as extremely vulnerable from COVID-19 (GOV.UK)
Link opens in new window 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)
Link opens in new window https://tinyurl.com/yx4qzur4


Leukodystrophy (U.S. National Organization for Rare Disorders, NORD)
Link opens in new window http://tinyurl.com/yywunvza

Leukodystrophy Information Page (U.S. National Institute of Neurological Disorders and Stroke)
Link opens in new window https://tinyurl.com/ybwu5mys

Leukodystrophies (Medline Plus)
Link opens in new window http://tinyurl.com/y5gay5zq

Living with a condition (The Brain Charity)
News and Events Survey: Treatment of Childhood Neurological Conditions (British Paediatric Neurology Association, September 2020)
Link opens in new window https://www.surveymonkey.co.uk/r/BPNA_JLA_RESEARCH_PSP
Our resources

Living with MLD (Metachromatic Leukodystrophy) 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".
Genetic disorders Children and young people Rare conditions