Adrenoleukodystrophy (ALD)
https://onlinelibrary.wiley.com/doi/10.1002/jimd.12581
This article reviews the neurological and mental implications of adrenoleukodystrophy (ALD) and its effects on patients and their families. ALD is a genetic neurodegenerative disorder characterized by a progressive loss of neurons in the nervous system, affecting the patient’s ability to perform simple daily tasks. ALD mostly affects males with 35-40% of them developing cerebral ALD (cALD) during childhood. It is the most aggressive type of ALD causing a rapid and radical loss of myelin sheath in neurons and progressive brain inflammation leading to serious neurological impairments. Nonetheless, most male patients develop adrenomyeloneuropathy (AMN) a condition related to spinal cord defects caused by ALD with symptoms including muscle weakness and neuronal pain. In order to diagnose the condition, a screening panel in the United States was created offering the patients an opportunity for early treatment ameliorating the symptoms and increasing the survival rate. Early treatment will allow the patients to increase their independence and complete daily tasks without the need for constant intervention. This will also enhance the patient’s confidence and mental well-being. Nevertheless, patient independence will also ease the interference of family and caregivers, improving their welfare. Overall, ALD has detrimental effects on patients’ physical and mental health as they are often unable to look after themselves and complete daily tasks. Early screening diagnosis makes it feasible to immediately treat the disease and ameliorate the daily life for the patients and their families.