Leukodystrophy

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) 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
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/young-people Preparing for adult life (Contact, charity for families with disabled children) 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) 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 Living with a condition (The Brain Charity)
News and Events	Survey: Treatment of Childhood Neurological Conditions (British Paediatric Neurology Association, September 2020) https://www.surveymonkey.co.uk/r/BPNA_JLA_RESEARCH_PSP
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".