Niemann-pick Disease
Niemann-Pick Disease is a rare, inherited, metabolic disorder caused by a mutation in a gene. It is characterised by an accumulation of certain lipids like sphingomyelin and cholesterol within cells, leading to progressive damage to organs including the brain. This disease can cause a range of symptoms including delayed motor skills, movement difficulties, cognitive impairment and even death. Early diagnosis and treatment can help to improve quality of life and slow the progression of the disease. Treatment strategies include enzyme replacement therapy, dietary measures, physical therapy and medicines. Niemann-Pick Disease is becoming more recognised with increasing awareness, research and development of treatments.
← Journal of Diseases