- Metachromatic leukodystrophy
- Krabbé disease
- Pelizaeus-Merzbacher disease
- Canavan disease
- Childhood ataxia with central nervous system hypomyelination (CACH), which is also called vanishing white matter disease
- Alexander disease
- Refsum disease
- Cerebrotendinous xanthomatosis
|Neuronal Axon With Myelin Sheath|
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- Gradual decline of the health of an infant or child who previously appeared well
- Loss or increase in muscle tone
- Change in movements
- Abnormal eye movements
- Change in walking pattern
- Loss of speech
- Loss of the ability to eat
- Loss of vision
- Loss of hearing
- Change in behavior
- Slowdown of mental and physical development
- Heart disease
- Enlargement of the liver and spleen
- Skeletal abnormalities, such as short stature, coarse facial appearance, and joint stiffness
- Respiratory disease leading to breathing problems
- Bronzing of the skin
- Cholesterol nodules to form on tendons
- Urine analysis
- Nerve or brain biopsy
- Blood test
- Lumbar puncture
- Nerve conduction testing
- Evoked potential test
Management of Symptoms
- Medications to reduce symptoms and relieve pain.
- Physical, occupational, and/or speech therapy
- Nutritional programs
- Recreational programs
Bone Marrow Transplant
Enzyme Replacement Therapy
National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov
United Leukodystrophy Foundation http://www.ulf.org
Bethany's Hope Foundation http://www.bethanyshope.org
Leukodystrophies Foundation http://www.leukofoundation.com
Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. Arch Neurol. 2007;64:651-657.
Lamari F, Mochel F, et al. Disorders of phospholipids, sphingolibids, and fatty acids biosynthesis: Toward a new category of inherited metabolic diseases. J Inherit metab Dis. 2013;36(3):411-425.
Leukodystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm. Updated May 6, 2010. Accessed February 13, 2014.
Metachromatic leukodystrophy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed . Updated January 20, 2011. Accessed February 13, 2014.
Moser HW, Mahmood A, et al. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2007;3:140-151.
Shimozawa N. Molecular and clinical aspects of peroxisomal diseases. J Inherit Metab Dis. 2007;30:193-197.
What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy. Accessed February 13, 2014.
- Reviewer: Rimas Lukas, MD
- Review Date: 01/2015 -
- Update Date: 02/13/2014 -