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. 2023 Apr 17;18:85. doi: 10.1186/s13023-023-02686-6

Table 2.

Classification of patients with ASMD

Infantile neurovisceral (ASMD type A) Chronic neurovisceral (intermediate ASMD, ASMD A/B, variant ASMD B) Chronic visceral (ASMD type B)
Phenotype Infantile onset of severe visceral involvement and neurodegeneration with progressive psychomotor deterioration Visceral features of NPD B as well as neurologic findings including ataxia, variable degrees of developmental delay and peripheral neuropathy Chronic progressive multi-system or oligosymptomatic, stable disease with no or little neurologic involvement
Natural History Relentless progression of neurologic and visceral disease and death typically by 3 years of age Wide spectrum of disease manifestations and severity, with slow progression Patients live past early childhood and sometimes into adulthood Wide spectrum of disease manifestations and severity. Sometimes oligosymptomatic. Survival usually extends well into adulthood and may even be normal. Patient may remain stable for years