ALD Info

Adrenoleukodystrophy (ALD) Fact Sheet

Overview

Adrenoleukodystrophy (ALD) is a rare, genetic disorder that affects the nervous system and adrenal glands. It is caused by mutations in the ABCD1 gene, which leads to the buildup of very-long-chain fatty acids (VLCFAs) in the brain, adrenal cortex, and spinal cord.

Key Facts

• ALD primarily affects males, but female carriers may have symptoms later in life.
• Early detection and intervention are crucial for managing ALD.
• Genetic testing is essential for at-risk families.

Types of ALD

• Cerebral ALD: The most severe form, affecting the brain and leading to neurological symptoms.
• Adrenomyeloneuropathy (AMN): A milder, adult-onset form that affects the spinal cord and peripheral nerves.
• Addison’s Disease: Characterized by adrenal insufficiency, leading to hormonal imbalances.

Causes

• ALD is an X-linked recessive disorder, meaning it is typically passed down from mother to son.
• Women can be carriers and may develop milder symptoms later in life.

Symptoms

• Cerebral ALD: Behavioral changes, blindness/ vision loss, deafness/ hearing loss, difficulty swallowing, seizures, loss of muscle control, progressive dementia and progressive neurological decline.
• AMN: Stiffness and weakness in the legs, problems with bladder and bowel control, pain, and sexual dysfunction.
• Addison’s Disease: Fatigue, weight loss, low blood pressure, skin pigmentation changes, and salt craving.

Diagnosis

• Blood Tests: Elevated levels of VLCFAs in the blood.
• Genetic Testing: Identifying mutations in the ABCD1 gene.
• MRI: Shows changes in the brain white matter.
• Adrenal Function Tests: To assess adrenal gland function.

Treatment

• Bone Marrow Transplant: Can be effective if performed early in cerebral ALD.
• Lorenzo’s Oil: A mixture of oleic and erucic acids that may slow the progression of ALD in asymptomatic boys.
• Hormone Replacement Therapy: For adrenal insufficiency.
• Symptomatic Treatment: Physical therapy, medications for seizures, and other supportive therapies.

Prognosis

The prognosis varies depending on the type and severity of ALD. Cerebral ALD has a poor prognosis without treatment, while AMN progresses more slowly. Early diagnosis and treatment can improve outcomes.

Prevention and Genetic Counseling

Families with a history of ALD should consider genetic counseling to understand the risks and options for family planning.

Research and Future Directions

Ongoing research aims to find better treatments and potentially curative therapies, including gene therapy and new drug trials.

Support and Resources

• ALD Connect: A patient advocacy organization providing support and resources for individuals and families affected by ALD.
• The Myelin Project: Focuses on advancing research and awareness of ALD and other demyelinating diseases.