What are IWMDs?
Inherited white matter disorders (or leukodystrophies) are a group of rare genetic conditions affecting the white matter in the central nervous system (the brain, spinal cord and peripheral nerves). There are over 100 conditions included in IWMD. These disorders can affect many different systems and functions in the body. They can cause issues with movement, speech, vision and hearing, control of bladder or bowels and learning difficulties. IWMDs are often (but not always) progressive, meaning they can get worse over time. Many patients are diagnosed in childhood as parents notice delays or regression in meeting milestones but IWMDs can present in adulthood too. Diagnosis of IWMD can be complex as the conditions are so rare and varied, and symptoms are usually not specific to a single condition. Diagnosis involves:
- A detailed medical history
- Full physical examination
- An MRI (magnetic resonance imaging)
MRI is used for diagnosis as this is the best way to look for areas of white matter that are abnormal.
What does the service involve?
There are six centres across the UK providing care for IWMDs in the UK.
In Manchester, there is a paediatric service based at Royal Manchester Children’s and a service for adults at Salford Royal. The service at RMCH is joint with Leeds Teaching NHS Foundation Trust. Manchester is the only HSS for IWMDs in the UK that is currently providing Libmeldy. This is a new gene therapy for metachromatic leukodystrophy (MLD) that can correct the genetic mutation causing MLD. This prevents the disease from progressing if it is started early enough. Read more about Libmeldy here.
The team includes consultant doctors from neurology, clinical genetics and metabolic medicine, with neurology specialist nurses and neuroradiology, neuropsychology. The service aims to diagnose IWMD, create a treatment plan specific to each patient, and may provide longer-term care for especially complex cases. They can also offer genetic screening to help identify specific forms of IWMD, and screen family members for the condition as well. Further investigations or referrals to specialties like ophthalmology or speech and language therapy can be organised as needed.
Main care and investigations will be based at each patient’s local service where possible, with advice and guidance provided by the HSS as needed. Every patient will be assigned a named specialist nurse upon referral who can be contacted with any questions.
Links
- Alex TLC charity – a charity supporting UK-based patients and families affected by IWMDs
- Salford Royal IWMD – information for patients and referrers, contact details and what to expect at an appointment
- Royal Manchester Children’s IWMD – information for patients and contact details
Credits:
Amy Abebrese – University of Manchester medical student