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.
![](/.imaging/webp/sanofi-platform/img-w400/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/ASMDsymptoms.jpg/jcr:content/ASMDsymptoms.jpg 400w, /.imaging/webp/sanofi-platform/img-w500/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/ASMDsymptoms.jpg/jcr:content/ASMDsymptoms.jpg 500w, /.imaging/webp/sanofi-platform/img-w600/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/ASMDsymptoms.jpg/jcr:content/ASMDsymptoms.jpg 600w, /.imaging/webp/sanofi-platform/img-w700/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/ASMDsymptoms.jpg/jcr:content/ASMDsymptoms.jpg 700w, /.imaging/webp/sanofi-platform/img-w800/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/ASMDsymptoms.jpg/jcr:content/ASMDsymptoms.jpg 800w, /.imaging/webp/sanofi-platform/img-w900/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/ASMDsymptoms.jpg/jcr:content/ASMDsymptoms.jpg 900w, /.imaging/webp/sanofi-platform/img-w1200/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/ASMDsymptoms.jpg/jcr:content/ASMDsymptoms.jpg 1200w)
![](/.imaging/webp/sanofi-platform/img-w400/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/asm-dchart-3-3x.png/jcr:content/asm-dchart-3@3x.png 400w, /.imaging/webp/sanofi-platform/img-w500/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/asm-dchart-3-3x.png/jcr:content/asm-dchart-3@3x.png 500w, /.imaging/webp/sanofi-platform/img-w600/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/asm-dchart-3-3x.png/jcr:content/asm-dchart-3@3x.png 600w, /.imaging/webp/sanofi-platform/img-w700/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/asm-dchart-3-3x.png/jcr:content/asm-dchart-3@3x.png 700w, /.imaging/webp/sanofi-platform/img-w800/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/asm-dchart-3-3x.png/jcr:content/asm-dchart-3@3x.png 800w, /.imaging/webp/sanofi-platform/img-w900/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/asm-dchart-3-3x.png/jcr:content/asm-dchart-3@3x.png 900w, /.imaging/webp/sanofi-platform/img-w1200/dam/rare-diseases-com/rare-diseases/acid-sphingomyelinase-deficiency/signs-and-symptoms/asm-dchart-3-3x.png/jcr:content/asm-dchart-3@3x.png 1200w)
*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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