Signs and Symptoms

Both Gaucher type 1 and ASMD type B are multi-systemic disorders and present with similar symptoms. The systems indicated by the green lines are common to both diseases and include anemia, thrombocytopenia, splenomegaly, displacement of normal bone marrow by storage cells, bone infarctions, fractures, and growth delay in children.

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    Signs and Symptoms
    Diagnosis
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*Erlenmeyer deformity is not typically seen in ASMD.

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

References:
Pastores GM, et al. NCBI Bookshelf, a service of the National Library of Medicine, National Institutes of Health (NIH). Available at: https://www.ncbi.nlm.nih.gov/books/NBK1269/. Accessed July 19, 2018. Kaplan P, et al. Arch Pediatr Adolesc Med. 2006;160(6):603–608. Baris HN, et al. Pediatr Endocrinol Rev. 2014;12 Suppl 1 (01):72–81. McGovern MM, et al. Genet Med. 2017;19(9):967-974 5. Charrow J, et al. Arch Intern Med. 2000;160(18):2835–2843.

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