Adrenoleukodystrophy is a rare genetic disease. The most common form is that linked to X chromosome and affects the nervous system. To date, the most effective therapy is the stem cell transplant of a healthy brother.
There are three forms of adrenoleucodistrophy.
- The cerebral form. It strikes during childhood and the first symptoms include behavioral disorders and learning deficits. The child has difficulty read, write, understand what is said to him. With time it causes disturbances of sight, hearing, and movement.
- Adrenomyeloneuropathy. It appears between 20 and 30 years with rigidity and weakness of the legs. Genital and urinary tract disorders are common, as well as neurological disorders. Many of those who suffer from it also manifest adrenal insufficiency.
- Addison's disease. The first symptom with which it is manifested is adrenal insufficiency. It usually does not have neurological effects and may appear in both infancy and adult life.
X-linked adrenoleucodystrophy affects almost only children. Females are usually healthy carriers, although some people show symptoms similar to andrenomieloneuropathy. However, it is difficult to draw a clear picture, as the disease presents a high degree of clinical variability.
The first form of the disease is inherited. It is caused by a mutation of the X-ALD gene, which is in the X chromosome. However, there are cases of sporadic transmission, where the anomaly occurs for the first time in the patient. Diagnosis is by clinical observation, instrumental and laboratory examinations. If family cases are known, the genetic test for prenatal diagnosis is also available.
For the infant cerebral form, the most effective treatment is marrow transplantation. Transplantation is necessary in the early stages of the disease. Gene therapy may also be available in the future, but studies and trials are still ongoing. Unfortunately, there is no resolving therapy: it can improve the quality of life of the patient, but it does not cure it.