Very rarely do women with ALD develop adrenal insufficiency or the cerebral form of the disease. Females with ALD are therefore a distinct group of adrenoleukodystrophy patients. This page discusses the complaints and symptoms that women with ALD may develop and what can be done about them.

Women with adrenoleukodystrophy (ALD) experience neurological symptoms such as progressive stiffness, weakness in the legs, and difficulty with mobility. Other symptoms may include pain, bladder and bowel dysfunction. Adrenal insufficiency and cerebral ALD are very rare in women.

Adrenoleukodystrophy (ALD) is a genetic disorder caused by a mutation in the ABCD1 gene, which is situated on the X chromosome. Because women have two X chromosomes, even if the ABCD1 gene on one of the X chromosomes is mutated, the healthy copy of the gene on the other X chromosome can balance the defect.

Adrenoleukodystrophy, ALD, is a genetic disorder connected to the X chromosome. It affects the nervous system and adrenal glands. Symptoms of ALD often include behavioral and cognitive changes. ALD affects males more than females. Treatment focuses on stopping or slowing the disease’s progression and improving symptoms. What is ALD?

2019年2月7日 · Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on disease progression rates are essential. Moreover, diagnosis can be challenging in ALD women, as the most important diagnostic biomarker is normal in 15–20%.

3 天之前 · Many women with X-ALD experience something called adrenomyeloneuropathy, which can cause numbness, joint pain, and urinary problems. Why is it important to know about X-ALD? Because symptoms can vary and often don’t appear until later in life, it’s important for women who might be carriers to be aware of the possibility of X-ALD. Early ...

2025年3月11日 · Female patients with ALD are also affected in adulthood, yet their disease course and symptom burden remain poorly defined. In this single-site study, we set out to characterize disease burden in female individuals with ALD and identify barriers faced by this patient population.

2020年8月19日 · Women who have one X chromosome carrying the mutated ABCD1 gene and one X chromosome carrying a healthy copy of the gene are said to be carriers of ALD. Carriers may not always develop symptoms of the disease, but they have a 50% chance of passing the disease to their children. Am I a female carrier? Talk to your doctor and a genetic counselor.

2025年2月7日 · In this single-site study, we set out to characterize disease burden in female individuals with ALD and identify barriers faced by this patient population. Adult female individuals with genetically or biochemically confirmed ALD were recruited through an outpatient specialty clinic and a patient advocacy group.

2025年2月25日 · Investigators found that myelopathy and neuropathy were common in female individuals with ALD, with disease burden worsened by mental health issues, health care barriers, and injuries. They noted recall and selection bias as study limitations. Source: neurology.org/doi/10.1212/WNL.0000000000213370.