Adrenoleukodystrophy (ALD) is a rare inherited condition marked by the deterioration or loss of the myelin sheath that encases nerve cells in the brain, leading to ongoing neurological dysfunction. ALD belongs to a group of genetic conditions known as leukodystrophies, which damage the myelin sheath of the brain's nerve fibers. This sheath is a fatty layer that functions as an electrical insulator.There are different forms of ALD:- The classic form is the most severe, affecting only boys, typically between the ages of 4 and 10. It is exclusive to boys because the gene responsible is located on the X chromosome. This form can manifest as vision loss, learning challenges, seizures, slurred speech, difficulty swallowing, coordination and balance issues, fatigue, occasional vomiting, increased skin pigmentation, and progressive neurological decline. Common signs often include behavioral changes such as withdrawal or aggression, poor memory, and declining academic performance. - Women who are carriers of ALD may sometimes exhibit symptoms, which tend to be mild and might include spasticity and weakness of the lower limbs, excessive muscle tone, mild neurological issues, and urinary difficulties.- The milder adult-onset form generally appears between the ages of 21 and 35. Symptoms might consist of leg stiffness, progressive spastic paralysis of the lower limbs, and balance problems. While this form progresses more slowly than the classic childhood version, it can also lead to cognitive decline.- The neonatal form of ALD affects both male and female infants. Symptoms can include developmental delays, facial abnormalities, seizures, retinal degeneration, low muscle tone, enlarged liver, and adrenal problems. This form tends to progress rapidly.Treatment across all ALD forms is primarily focused on symptom management and providing support. Psychological assistance and specialized education may be beneficial for some patients.The prognosis for individuals with ALD is generally poor due to the progression of neurological deterioration, with life expectancy ranging from 1 to 10 years following symptom onset.
