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Leukodystrophy

The word leukodystrophy comes from the Greek words leuko (white), trophy (growth) dys (ill).

The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolises these chemicals.  Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. [1]

Progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibre. Myelin, which lends its colour to the white matter of the brain, is a complex substance made up of at least ten different chemicals. [1]

The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well.

Progressive loss may appear in                                                                                                                                                               

• Ability to eat.
• Behaviour.
• Body tone.
• Gait.
• Hearing.
• Movements.
• Speech.
• Vision.

There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease. [1]. These disorders are progressive.

How are the leukodystrophies different from one another?

All leukodystrophies are a result of problems with the growth or maintenance of the myelin sheath and there are many genes that are important in this process. Some are involved with the synthesis of the proteins needed for the myelin, others are needed for the proper transport of these proteins to their final location in the myelin sheath.

The symptoms of the individual leukodystrophies may vary because of the differences in their genetic cause.

Leukodystrophies are mostly inherited disorders (passed on from parent to child), They may be inherited in a recessive, dominant, or X-linked manner, depending on the type of leukodystrophy. However, there are some leukodystrophies that do not appear to be inherited, but rather arise spontaneously. They are still caused by a mutation in a particular gene, but it just means that the mutation was not inherited. Therefore, in this case, the birth of one child with the disease does not necessarily increase the likelihood of a second child having the disease.

Currently, all leukodystrophies are incurable and dramatically affect the life-span of one affected.

MS - Leukodystrophies share some common features with multiple sclerosis (MS). MS is caused by damage to the myelin sheath surrounding the axons within the central nervous system. However, the cause is different; leukodystrophies are generally caused by a defect in one of the genes involved with the growth or maintenance of the myelin.

1. Ninds

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