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General information

Estimated occurrence
There is no current information on how many people have the various forms of leukodystrophies. There are 2-3 per 100,000 who have metachromatic leukodystrophy; 1 child in 25,000 with Krabbe disease.

Leukodystrophies are a group of diseases caused by a congenital genetic metabolic disorder which damage the white matter around neurons in the brain (myelin sheaths).  These diseases are divided into lysosomal, peroxisomal, mitochondrial and so on, depending on which of the cell components (organelles) are affected. The different leukodystrophies have varying developmental patterns.

General symptoms

Leukodystrophies have a progressive course. The onset of symptoms varies with the different forms. Each disease has its specific pathology, but the following symptoms are common in various forms of leukodystrophy: Spasticity, muscle weakness, cerebellar symptoms (e.g. uncontrolled movements), visual impairments, cognitive disorders and convulsions.


Diseases included: Addison disease, Adrenoleukodystrophy (ALD), Adrenomyeloneuropathy (AME), Alexander disease, Canavan disease, Krabbe disease, Metachromatic lekodystrophy (MLD), Pelizaeus Mertzbacher disease, Sjögren Larsson syndrome, etc.

Orofacial/odontological symptoms

Oral motor control is often affected, which can limit the ability to suck, eat, speak and control saliva. Impaired oral motor control, eating difficulties, frequent vomiting and problems with oral care can result in an increased risk of gum inflammation and tooth decay.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary.
  • Communication training is often warranted


Updated: 2019-11-12 14:54