Adrenoleukodystrophy (ALD)
This study in the United States highlights the significant burden of adrenoleukodystrophy (ALD) in female individuals, with over 90% experiencing neurological symptoms. The most common symptoms included urinary issues, walking difficulties, and spasticity (abnormal muscle tightness or spasm due to prolonged muscle contraction), with sensory symptoms like neuropathic pain and paresthesia (feelings of tingling or numbness on or under the skin) appearing earliest. Symptom onset occurred later in females than males, leading to delayed diagnosis, often through family screening rather than symptom presentation and 17% of females were misdiagnosed. Many female patients suffered from falls, fractures, osteoporosis, arthritis, and recurrent UTIs, while endocrine abnormalities, including adrenal insufficiency (3%) and hypothyroidism (11%), were also observed. Despite high rates of chronic pain and mobility issues, treatment options were limited, with most relying on analgesics (pain relief medication) and physical therapy. Laboratory results confirmed elevated very long-chain fatty acids (VLCFAs) in nearly all tested individuals, though X-inactivation studies showed variable patterns. Brain MRIs rarely revealed cerebral disease, but spinal MRIs showed widespread degenerative changes. Many women reported difficulty accessing care due to provider inexperience, misbeliefs about female disease progression, specialist shortages, and financial constraints. Quality of life was significantly impacted, with many struggling with physical limitations, mental health conditions, and challenges related to family planning. Nearly half required home modifications for accessibility. The growing use of newborn screening has enabled earlier diagnosis, but gaps in care remain, emphasising the need for standard treatment guidelines, increased provider education, and better support systems. Addressing these disparities is crucial to improving outcomes and quality of life for female individuals with ALD.