Adrenoleukodystrophy is a rare genetic disease linked to the X chromosome, in which there is adrenal insufficiency and accumulation of substances in the body that promote demyelination of the axons, which is the part of the neuron responsible for conducting electrical signals, and may be involved in speech, vision or in the contraction and relaxation of muscles, for example.
Thus, as in adrenoleukodystrophy, nervous signaling may be impaired, it is possible that signs and symptoms related to this situation may arise over time, with changes in speech, difficulty in swallowing and walking, and changes in behavior, for example.
This disease is more frequent in men, since men have only 1 X chromosome, while women must have both chromosomes altered to have the disease. In addition, signs and symptoms can be manifested at any age, depending on the intensity of the genetic change and the speed with which demyelination occurs.
Symptoms of adrenoleukodystrophy
The symptoms of adrenoleukodystrophy are related to changes in the function of the adrenal glands and demyelination of the axons. The adrenal glands are located above the kidneys and are related to the production of substances that help regulate the autonomic nervous system, promoting the control of some functions of the body, such as breathing and digestion, for example. Thus, when there is dysregulation 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 resulting in the characteristic signs and symptoms of adrenoleukodystrophy.
Thus, the symptoms of adrenoleukodystrophy are perceived as the person develops and can be verified:
- Loss of adrenal gland function;
- Loss of the ability to speak and interact;
- Behavior changes;
- Difficulty walking;
- Difficulty feeding, and feeding through a tube may be necessary;
- Difficulty swallowing;
- Loss of cognitive abilities;
It is important that adrenoleukodystrophy is identified right at birth, as it is possible to decrease the speed at which symptoms appear, promoting the baby’s quality of life.
How the treatment is done
The treatment for adrenoleukodystrophy is bone marrow transplantation, which is recommended when symptoms are already very advanced and there are severe brain changes. In milder cases, the doctor may recommend replacing hormones produced by the adrenal glands, in addition to physical therapy to prevent muscle atrophy.