Adrenoleukodystrophy (ALD)
X-linked Adrenoleukodystrophy (X-ALD) is a genetic condition in which certain fats build up in the body and gradually damage the brain, spinal cord and adrenal glands. Although it mainly affects men, women who carry a faulty ABCD1 gene can also develop symptoms later in life. In women, the condition usually progresses slowly and can be easily mistaken for other diseases. In this case report, the patient was a 64-year-old woman who developed increasing difficulties walking and maintaining balance over five years. Early tests showed a disc herniation in her spine for which she underwent surgery, but her symptoms continued to worsen. Further investigations, including brain scans and blood tests, ruled out muscle and autoimmune diseases, infectious and nutritional causes. Eventually, the medical team explored rare metabolic and genetic causes. These tests revealed elevated levels of certain fats in her blood, and genetic analysis identified a mutation in the ABCD1 gene, thus confirming the diagnosis of X-ALD. The patient did not have adrenal gland failure, which is common in men with X-ALD but less so in women. The authors emphasise that X-ALD should be considered when adult women present progressive stiffness and weakness of the legs. While no curative treatment exists, early diagnosis allows appropriate genetic counselling and family screening and ensures proper long-term monitoring and support.