Late Infantile MLD Metachromatic Leukodystrophy

Late Infantile MLD

The most common initial signs and symptoms in children who develop MLD during the first 2 years of life are, after a period of normal growth and development, abnormal or erratic movements and other changes in the way they move particularly when they are crawling/walking. Unfortunately, as MLD is such a rare disease and health professionals rarely generally see less than one or two cases in their career, these children are frequently diagnosed as cerebral palsy as they initially have problems with walking and toe walking. However, with MLD there is also deterioration in other developmental skills e.g. loss of speech. Once these symptoms become noticeable they can progress rapidly over a few months but with periods of apparent stabilisation.

Although children with Late-infantile MLD do learn to walk, the movement in the limbs becomes abnormal and, as the muscles become rigid, walking ability diminishes. Speech is also affected and, as many parents have noted, this is one of the unkindest symptoms—not hearing their children’s voices again. As time goes by, limbs can become painful as contractures develop. Fine motor skills are affected, for instance writing, drawing etc. Difficulties in feeding occur and weight gain becomes a significant problem. Many children are tube fed to overcome this. Ultimately, mobility and speech is totally lost and the child becomes bedridden.  This is accompanied by a progressive cognitive decline, restricting interaction and understanding and, eventually, leading to dementia. Sight is also lost and seizures become a significant problem.

About us

MLD Support Association UK was set up to bring hope to families in the fight to eradicate Metachromatic Leukodystrophy (MLD). Our aim is to provide support by way of shared information from people in similar circumstances who have already experienced the effects of the condition and/or any treatments available.

MLD Support Association UK

MLD Support Association UK is a
Registered Charity Number 1150542

Professor Timothy M Cox, MD, FRCP, FMedSci
Suzi Digby (Lady Eatwell) OBE
Iain Stewart MP


MLD Support Association UK
Floor 5
Amphenol Business Complex
Thanet Way

Tel: 07977 440809