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ASMD Signs and Symptoms

Both Gaucher and ASMD are multisystemic disorders and present with similar symptoms. The systems indicated by the green lines are common to both Gaucher and ASMD and include anemia, thrombocytopenia, splenomegaly, displacement of normal bone marrow by storage cells, bone infarctions, fractures, and growth delay in children.





 *Erlenmeyer deformity is not typically seen in ASMD.


Signs and symptoms may be non-specific resulting in delayed diagnosis or misdiagnosis.



1. Pastores, GM, et. Al NCBI Bookshelf, a service of the National Library of Medicine, National Institutes of Health (NIH). Available at: Accessed July 19, 2018. 2. Kaplan P, et al. Arch Pediatr Adolesc Med. 2006; 160:603-608. 3. Baris HN, et al. Pediatr Endocrinol Rev. 2014; 12:72-81. 4. McGovern MM et. Al. Genet Med. 2017; 19 (9):967-974 5. Charrow J et al. Arch Intern Med 2000;160:2835.







Last Updated: Feb 5, 2021
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New to molecular testing?
This 4 minute video illustrates the path a healthcare provider takes when ordering diagnostic testing for a lysosomal storage disease for the first time, and offers tips along the way.



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