ALD (Adrenoleukodystrophy) is a rare, inherited disorder that affects the adrenal glands, white matter of the brain, and the myelin sheath that covers nerve cells in the brain and spinal cord. The condition is caused by a mutation in the ABCD1 gene located on the X chromosome. The ABCD1 gene produces a protein that helps to break down certain fatty acids in the body. Without the protein, certain fatty acids can accumulate to toxic levels in the body, leading to damage to the adrenal glands, brain, and nervous system.
Symptoms of ALD
The symptoms of ALD vary depending on the age at which the condition is diagnosed. In children, symptoms can include difficulty with walking, vision and hearing impairment, seizures, and progressive intellectual decline. In adults, symptoms can include fatigue, muscle weakness, peripheral neuropathy, and abnormal hormone levels.
Diagnosis of ALD
The diagnosis of ALD is based on the presence of specific signs and symptoms, a family history of the disorder, and genetic testing. Genetic testing is used to detect mutations in the ABCD1 gene, which can confirm the diagnosis of ALD.
Treatment of ALD
There is no cure for ALD, but treatments are available to help slow the progression of the disease. These treatments can include medications to reduce inflammation, physical therapy, and hormone replacement therapy. Bone marrow transplantation is the only treatment that has been shown to improve the outcome for some people with ALD.
Prognosis of ALD
ALD is a progressive disorder, and it can be life-threatening. The prognosis for people with ALD depends on the age at which the condition is diagnosed and the severity of symptoms. In general, the prognosis is poor for those diagnosed in childhood, with most individuals dying within 10 years of diagnosis. For those diagnosed in adulthood, the prognosis is more variable, with some individuals living for decades.