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As an organisation supporting those with a diagnosis of leukodystrophy, we know how difficult it can be to access good reliable information.

Our Support Services Team are available to help you support families affected by leukodystrophies.

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Key information

All the information we produce has been checked by specialists in the field of leukodystrophy so you can be assured our information is accurate and from reliable sources.

Clinical Guidelines

We wanted to share leukodystrophy clinical guidelines that are suitable and relevant for professionals.

GeneReviews – NCBI Bookshelf

GeneReviews is an international resource available for clinicians with medical information on inherited conditions. It covers diagnosis, clinical characteristics, management, and genetic counselling for patients and their families. The information is written by experts on the condition the chapter covers.

To find out more, visit: GeneReviews

 

ALD diagnosis guidelines

The European Reference Network for Rare Neurological Diseases (ERN-RND) has endorsed guidelines for X-ALD to help guide the diagnosis and recommends they are used.

To view the guidelines: International recommendations for the diagnosis and management of patients with Adrenoleukodystrophy

Resources and groups

We wanted to share leukodystrophy resources that are suitable and relevant for professionals.

Queen Square Adult Leukodystrophy Group

The Queen Square Adult Leukodystrophy Group (QSALG), is a multidisciplinary group that accepts referrals from doctors throughout the UK regarding patients with undiagnosed leukodystrophy / leukoencephalopathy, with the goal of guiding those doctors in arranging appropriate investigations and making a diagnosis.  The team consists of neuroradiologists, neurologists (from cognitive, neuroinflammatory and neurogenetic specialities), and a physician in adult inherited metabolic disease, with support from neurology trainees and administrative staff. A monthly meeting is held to discuss new referrals and view brain scans and other results – with a comprehensive written report sent to each referring doctor.  A bi-annual leukodystrophy outpatient clinic is also held at Queen Square at which patients may be reviewed in person if required.

 

ERN-RND

The ERN-RND is a European Reference Network established by the EU to support patients and families affected by rare neurological diseases (RND). It is a useful resource for professional development, clinical support and advice.

To find out more, visit: ERN-RND website

 

MLD Initiative

The MLD initiative (MLDi) is a European disease registry for metachromatic leukodystrophy (MLD) and a multi-stakeholder collaboration. Their aim is to improve disease management of metachromatic leukodystrophy through an international disease registry and multistakeholder collaboration. The MLD initiative collects patient data for research and healthcare purposes. Researching rare diseases is difficult because of small patient numbers. Therefore, clustering data in a European database is needed. The MLDi initiates, coordinates, and manages various projects focused on improving the care for MLD.

To find out more, visit: MLD Initiative website