Early diagnosis is key to enabling appropriate
Include ASMD and Gaucher disease in your differential diagnosis and parallel test
ASMD symptoms vary in onset and clinical presentation, and often overlap with more commonly seen and considered conditions. Due to this variability and symptom overlap, diagnostic delays are common.1-3
Diseases of the heart, liver, lungs, and hematologic malignancies may exhibit symptoms similar to ASMD. Another lysosomal storage disorder, Gaucher disease type 1, shares significant symptom overlap with ASMD.2
*Based on a prospective, cross-sectional survey of 59 ASMD type B patients.
Living with ASMD