Here's a straightforward overview of adrenoleukodystrophy, covering its causes, symptoms, diagnosis, treatment, and prevention.
Causes
As a result of mutations in the ABCD1 gene, very long-chain fatty acids (VLCFAs) accumulate in the body, causing ALD. Those fatty acids accumulate in the adrenal glands and white matter of the brain, causing damage to the myelin covering nerve cells. Inheritance of ALD is X-linked, which means males are primarily affected. In women who carry the mutated gene, the disorder may be milder or asymptomatic.
Symptoms
Symptoms of ALD can vary depending on the age of onset and severity. Common symptoms include:
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Neurological decline: Loss of motor skills, vision, hearing, and cognitive abilities.
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Weakness, fatigue, weight loss, and low blood pressure are all symptoms of adrenal insufficiency.
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Aggression, hyperactivity, and difficulty concentrating are some of the behavioral changes.
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Loss of vision or hearing: Impairment or loss of vision or hearing.
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People with ALD may experience seizures in some cases.
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Coordination and movement are difficult due to muscle stiffness and weakness.
Diagnosis
Medical history, physical examination, and laboratory tests are used to diagnose ALD. Diagnostic assessments may include:
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ALD mutations are identified by genetic testing of the ABCD1 gene.
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ALD patients typically have elevated levels of very long-chain fatty acids (VLCFAs) in their blood.
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An MRI imaging study is used to evaluate changes in the white matter of the brain that may indicate Alzheimer's disease.
Treatment
ALD is currently incurable, but treatment focuses on managing symptoms and slowing the progression of the disease. Treatment options include:
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Replacement of hormones produced by the adrenal glands in order to treat adrenal insufficiency.
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Some individuals with ALD may benefit from a diet low in VLCFAs to reduce their body levels.
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A bone marrow transplant may be considered for individuals with early-stage ALD.
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Seizures, muscle stiffness, and behavioral changes can be managed with medications and therapies.
Prevention
It is not possible to prevent the development of ALD since it is a genetic disorder. Prenatal testing and carrier screening are also available for families with a history of ALD. Genetic counseling and testing can assist in identifying individuals at risk of passing the mutated gene on to their children.
