Which are the symptoms?
This disease mainly affects the nervous system (with progressive destruction of myelin, the substance that lines nerve cells) and the adrenal glands (with consequent deficiency of certain hormones). There are three forms of it.
The brain form strikes during childhood and affected children exhibit behavioral and learning disorders leading to difficulties in reading, writing, and understanding oral speech. Vision, hearing, and movement disorders may also occur.
Adrenomyeloneuropathy, on the other hand, occurs between the ages of 20 and 30, with the appearance of paraparesis (stiffness and weakness of the legs), disorders of the genital and urinary systems and neurological disorders. Most affected individuals also show adrenal insufficiency.
The third form is called Addison's disease and manifests itself as adrenal insufficiency, but usually without neurological involvement; it can appear in childhood or adulthood.
How is it diagnosed?
Clinical variability of the disease is very high, even within the same family. Diagnosis is based on clinical observation and is usually supported by instrumental (MRI) and laboratory (measurement of long-chain fatty acid levels in the blood) tests. Genetic testing is available and is typically used for prenatal diagnosis.
How is it treated?
The infantile brain form can be treated successfully by marrow transplantation from a healthy donor, provided that transplantation is performed at an early age (IQ>70). Lorenzo oil (a mixture of unsaturated long-chain fatty acids) can reduce brain damage if given very early, before the age of six.