Adrenoleukodystrophy (ALD)
https://pmc.ncbi.nlm.nih.gov/articles/PMC13071096
Adrenoleukodystrophy (ALD) is a rare inherited condition caused by changes in the ABCD1 gene on the X chromosome. Although ALD is often associated with severe brain disease and adrenal problems in men, many women develop symptoms later in life. These symptoms usually affect the spinal cord and nerves (myeloneuropathy), leading to stiffness, balance problems, bladder symptoms, pain, or difficulty walking. Researchers have used several clinical rating scales to measure symptoms in women with ALD, but these tools vary widely and are not always sensitive enough to detect early changes or track progression over time. This review looked at all the clinical assessment scales that have been used in studies of women with ALD. Researchers compared scales that assess disability, walking and mobility, neurological function, quality of life, pain, fatigue, sleep, restless legs syndrome, depression, and sexual health to identify which are most useful for monitoring disease progression and evaluating future treatments. No single assessment captured all aspects of the disease. The Expanded Disability Status Scale (EDSS) which assesses disease severity appeared to be the most useful for tracking long-term progression of mobility and spinal cord symptoms but has limitations due the slow progression of the disease. The InternationalRestless Legs Syndrome Rating Scale (IRLS) may also be valuable for women with restless legs symptoms to assess the presence and severity of symptoms. The EDSS and IRLS were found to have potential for differentiating symptomatic and asymptomatic women. The Japanese Orthopedic Association (JOA) scores and Severity Score System for Progressive Myelopathy (SSPROM) assess myelopathy and differentiated symptomatic and asymptomatic women with slowly progressing neurological symptoms. General quality-of-life measures from self-report questionaries, such as the SF-36 (measures health status and quality of life), reflected the overall impact of ALD and may detect differences in physical and mental health. The authors also outline key priorities for future research, including developing more accurate ways to monitor disease progression and evaluate treatment responses specifically in women.