Equipping People To Make Sense Of What They Are Told
Leukodystrophies are a group of disorders that are caused by genetic defects in how
myelin produces or metabolises the chemicals required to form myelin. Each of the
leukodystrophies is the result of a defect in the gene that controls one (and only
one) of the chemicals.
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.
The most common symptom of a leukodystrophy disease is a gradual decline in an infant
or child who previously appeared well.
Progressive loss may occur in some abilities such as:
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 recognise in the
early stages of the disease.
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.
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.
Treatment for most of the leukodystrophies is symptomatic and supportive, and may
include medications, physical manipulation, occupational therapy, speech therapies,
nutritional, educational, and recreational programs.
Bone marrow transplantation is showing promise for a few of the leukodystrophies.
Aimspro has orphan status for the treatment of Krabbe Disease
