Adrenoleukodystrophy (ALD) is an inherited disorder that affects the brain and adrenal glands. It is a rare genetic disorder caused by a mutation of the ABCD1 gene. ALD affects males more than females and is believed to affect up to 1 in 20,000 people worldwide.
There are three types of ALD: cerebral ALD, adrenomyeloneuropathy (AMN), and Addison's disease.
Cerebral ALD is the most common type and is associated with the most severe symptoms. It affects the brain and spinal cord, leading to a progressive loss of physical and mental abilities. Symptoms can include seizures, loss of hearing and vision, and intellectual disabilities. Treatment focuses on slowing the progression of the disease and may include medication, diet, and physical therapy.
AMN is a milder form of ALD that primarily affects the spinal cord and peripheral nervous system. Symptoms can include muscle weakness, loss of sensation, and difficulty walking. Treatment focuses on symptom management and may include physical therapy, occupational therapy, and medications.
Addison's disease, also known as adrenal insufficiency, is the most rare form of ALD and is caused by the destruction of the adrenal glands. Symptoms can include fatigue, darkening of the skin, and weight loss. Treatment focuses on restoring the body's ability to produce hormones and may include hormone replacement therapy and medications.
In all forms of ALD, early diagnosis is essential to ensure the best outcome. Genetic testing is available to diagnose ALD and can help inform treatment decisions. There is no cure for ALD, but treatments can help manage symptoms and improve quality of life.