- 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
- 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
DeKosky S, Kaufer D, Hamilton R, Wolk D, Lopez O. The dementias. In: Bradley WG, ed. Neurology in Clinical Practice. 5th ed. Philadelphia, PA: Butterworth Heinemann Elsevier; 2008.
Genotype and protein expression after bone marrow transplantation for adrenoleukodystrophy. Arch Neurol . 2007;64:651-657.
Lamari F, et al. Disorders of phospholipids, sphingolibids, and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit metab Dis . 2012. July 20.
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 May 20, 2013.
Metachromatic leukodystrophy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated January 20, 2011. Accessed May 20, 2013.
Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy [review]. Nat Clin Pract Neurol . 2007;3:140-151.
Ropper AH, Brown RH. Adams and Victor's Principles of Neurology . 8th ed. New York, NY: McGraw-Hill Medical Publishing Division; 2005: chap 37.
Shimozawa N. Molecular and clinical aspects of peroxisomal diseases [review]. J Inherit Metab Dis . 2007;30:193-197.
What is leukodystrophy? United Leukodystrophy Foundation website. Available at: http://ulf.org/what-is-leukodystrophy . Accessed May 20, 2013.