Adrenoleukodystrophy

Adrenoleukodystrophy is a progressive condition that affects the adrenal glands and the growth of myelin in the brain and spinal cord. This is an x-linked genetic disorder. It results in the accumulation of long chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are seven recognized forms of the disease.

The neonatal form appears shortly after birth and includes seizures and delayed neurological development, with death occurring in infancy or young childhood. The cerebral form appears in mid-childhood (at 4-8 years), and the other forms appear during adolescence. One-third of affected people develop neurological symptoms, and about half develop abnormal adrenal function.

As the disease progresses, further signs of damage to the white matter of the brain appear; they include changes in muscle tone, stiffness and contracture deformities, difficulty swallowing, and comma.