Enfermedades Degenerativas (Adl)

Adrenoleukodystrophy (ALD)

Adrenoleukodystrophy, or ALD, is an x-linked metabolic disorder, characterized by progressive neurologic deterioration due to demyelination of the cerebral whitematter. Brain function declines as the protective myelin sheath is gradually stripped from the brain’s nerve cells. Without that sheath, the neurons cannot conduct action potentials—in other words, theystop telling the muscles and other elements of the central nervous system what to do. This sequence of events appears to be related to an abnormal accumulation of saturated very-long-chain fatty acids(VLCFA) in the serum and tissues of the central nervous system, which sets off an abnormal immune response that leads to demyelination. It is unclear exactly how this chain of events works, butscientists do know that it has its roots in genetics. ALD is caused by a genetic abnormality, commonly referred to as a "genetic mutation", affecting the X chromosome, otherwise known as an "x-linked"condition. Everyone has two sex chromosomes: women have two X chromosomes and men have an X and a Y chromosome. If a woman inherits the abnormal X chromosome, she still has a normal, second X chromosome tohelp balance out the affects of the mutation. Boys and men do not have a second X chromosome, so if they inherit this genetic abnormality, they will get the disease. ALD takes several forms, which canvary widely in their severity and progression. They include: Childhood cerebral demyelinating ALD. This is the most common form of ALD, representing about 45% of all ALD cases. It is characterized byan inflammatory process that destroys the myelin, causing relentless progressive deterioration to a vegetative state or death, usually within five years. Source: The Stop ALD Foundation

Diagnosis:The clinical presentation of ALD can vary greatly, making diagnosis difficult. With the variety of phenotypes, clinical suspicion of ALD can result from a variety of different presentations....