What is Leukodystrophy
The leukodystrophies are a group of rare, progressive, genetic disorders that affect central nervous system by disrupting the growth or maintenance of myelin sheath, which insulate nerve cells. Myelin is fatty white substances that covers the axons of neurons and give impulse for the transfer of signals in neurons. In other words, luekodystrophies are a group of disorders characterized by the degeneration of white matter in the brain. These disorders affect the brain, spinal cord and often the peripheral nerves. The word leukodystrophy comes from Greek words, “ leuko” means white, “ dys” means lack of, and “ troph” means growth.
Causes of leukodystrophy
There are nearly more than 50 diagnosed luekodystropies known as of now; and each year few more new luekodystropies are diagnosed. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.
Occurrence of leukodystrophy
Most of luekodystrophies are commonly inherited diseases via autosomal recessive phenotypes. The combined incidence of different types of leukodystropies are 1: 7600. Luekodystrophies are common in infancy and early childhood although jevunelle and adult leukodystropheies are also known. Onset of some types of leukodystrophy begin shortly after birth, but others develop later in childhood or even in adulthood.
Symptoms of leukodystrophy
Leukodystrophy can cause problems with movement, vision, hearing, balance, ability to eat, memory, behavior, and understanding. Leukodystrophies are progressive diseases meaning that the symptoms of the disease tend to get worse over time.
Current diagnosis and treatment
Magnetic resonance imaging (MRI) has markedly increased the awareness of hereditary white matter diseases associated with the formation of myelin and hypomyelination. New diseases based on MRI and clinical patterns have been defined through the committed collaboration of neurologists in medical centers around the world. There is no standard treatment for luekodystrophies although many studies and clinical trials are in progress to find treatment and therapies for each of the different leukodystrophies. Stem cell transplants and gene therapy appear to be most promising to treat all kinds of luekodystropies. Several research institutions across the world are working in this direction. Research funding is biggest problem for these disorders because of lack of general awareness and rarity of the diseases.
