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.
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