Adrenoleucodystrophy is a rare genetic disease linked to the X chromosome, in which there is an adrenal deficiency and a buildup of substances in the body that promote the demyelination of axons, which is the part of the neuron responsible for conducting electrical signals, and can be involved in speech, vision or muscle contraction and relaxation as what.
Thus, as in adrenoleucodystrophy, nerve signaling may be affected, signs and symptoms related to this situation may appear over time, with changes in speech, difficulty swallowing and walking, and behavioral changes, for example.
- This disease is more common in men because men only have one X chromosome.
- While women must have both chromosomes modified to have the disease.
- In addition.
- Signs and symptoms can occur at any age.
- Depending on the intensity of the genetic change and the rate at which demyelination occurs.
Symptoms of adrenoleucodystrophy are related to changes in adrenal gland function and demyelination of axons. The adrenal glands are located above the kidneys and are linked to the production of substances that help regulate the autonomic nervous system, promoting control of certain functions of the body, such as breathing and digestion, for example. Thus, in case of deregulation or loss of adrenal function, changes in the nervous system are also observed.
In addition, due to genetic alteration, it is possible to accumulate toxic substances in the body, which can cause the loss of the myelin sheath of the axons, preventing the transmission of electrical signals and causing the signs and symptoms characteristic of the herololeucodistrophy.
Thus, symptoms of adrenoleucodystrophy are perceived as the person develops and can be verified:
It is important that adrenoleucodystrophy is identified from birth, as it is possible to decrease the rate of onset of symptoms, thus promoting the baby’s quality of life.
Treatment for adrenoleucodystrophy is bone marrow transplantation, which is recommended when symptoms are already very advanced and there are severe brain changes. In milder cases, your doctor may recommend replacement of hormones produced by the adrenal glands, as well as physical therapy to prevent muscle atrophy.