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Sandra’s Journey in ASMD (Adult Patient)
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Acid Sphingomyelinase Deficiency (ASMD), also known as Niemann-Pick Disease Types A (NPD A) and Type B (NPD B), is a rare lysosomal storage disease. It is a serious and potentially life-threatening genetic disorder that causes accumulation of the unmetabolized lipid sphingomyelin in cells, resulting in damage to major organ systems.

ASMD is represented by a broad clinical spectrum of disease, with neurological and visceral involvement, including an acute infantile neurovisceral form (also known as Niemann-Pick disease type A) which is uniformly fatal in infancy, a chronic visceral form (also known as Niemann-Pick disease type B) which presents with significant disease-related morbidities in multiple organ systems but without neurological symptoms, and a chronic neurovisceral form (also known as variant or intermediate type) which falls between the two ends of the clinical spectrum.

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