Adrenoleukodystrophy (ALD)
Adrenoleukodystrophy (ALD) is a hereditary congenital disorder, involving degradation of the white matter in the brains (leukodystrophy) both in children and adults. Moreover, the most common peroxisomal disorder. In peroxisomal disorders, there is a change in the genetic material a disorder in the peroxisomes . Peroxisomes are small organs (organelles) in a cell, using enzymes – enzymes-guiding chemical reactions. ensure the degradation of waste. This disease affects the degradation of waste disturbed, so they accumulate in the cells. The accumulation of waste is toxic and difficult operation of the cells. This finally causes damage to organs and tissues.
ALD is characterized by a progressive degradation of insulation of the nerves in the central nervous system (brains and spinal cord) that is associated with insufficient functioning of the adrenal glands. This causes various symptoms, including paralysis and impaired motor control (ataxia).
There are two distinct types, which reflect different ages. The most common is the form in childhood is reflected. The adult form, also known adrenomyeloneuropathie called, begins in adulthood. The symptoms of both forms can vary in severity and form, because different parts of the central nervous system are affected. ALD occurs only in boys and men, and women who are carriers of the disease may have symptoms.
Diagnosis
The diagnosis is made after extensive neurological examination. Also a blood test or testing a piece of tissue taken (biopsy) can help the diagnosis.
Treatment
At this time a bone marrow transplant is the only effective therapy. The drawbacks are large. Not only is there a suitable donor needs, whether this concerns a very serious surgery (55% survival after 5 years in ALD patients).
Occurrence (frequency)
ALD occurs only in boys and men, and women who are carriers of the disease may have symptoms. The disease is about boys in 1:20.000.
Inheritance
The inheritance of recessive X-linked ALD runs.