Certified Neuroscience Registered Nurse (CNRN) Practice Exam

In treating adrenoleukodystrophy (ALD), what is typically the first step in management?

1. Enzyme replacement therapy

2. Bone marrow transplant

3. Dietary modification

4. Physical therapy

The correct answer is: Bone marrow transplant

In the context of treating adrenoleukodystrophy (ALD), initiating management often involves considering a bone marrow transplant. This approach seeks to address the underlying genetic defect and restore enzyme function, which is crucial in managing the disease's progression. Bone marrow transplant can be particularly effective for patients in the early stages of ALD, especially for those with the cerebral form of the disease, where neurological decline can be rapid. The rationale for prioritizing a bone marrow transplant is rooted in its potential to halt or even reverse neurological damage by providing a source of functioning cells capable of producing the required enzymes that the body lacks due to the genetic mutation. This is often regarded as a definitive treatment option compared to other management strategies, which might address symptoms but do not modify the disease course. Other management strategies, such as enzyme replacement therapy, dietary modifications, and physical therapy, play supportive roles in the comprehensive management of ALD but are not first-line interventions aimed at altering the disease progression. They might be employed after foundational measures like bone marrow transplantation, depending on the patient's individual needs and specific stage of the disease.