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ASMD may be presenting in your practice, know the symptoms

    • Respiratory infections
      (ie, pneumonia)
    • Interstitial lung disease
    • Shortness of breath
    • Chronic fatigue
    • Pulmonary hypertension
    • Hepatomegaly
    • Fibrosis and cirrhosis
    • Elevated transaminases
    • Dyslipidemia
    • Splenomegaly
    • Abdominal pain, pressure, and early satiety due to splenomegaly
    • Anemia
    • Thrombocytopenia (excessive bleeding and easy bruising)
    • Abdominal pain
    • Diarrhea
    • Types A and A/B only
    • Hypotonia
    • Ataxia
    • Developmental delay
    • Peripheral neuropathy
    • Mainly types A and A/B
    • Cherry red maculae
    • Mainly types A/B and B
    • Coronary artery disease
    • EKG abnormalities
    • Back, limb, and/or joint pain
    • Pathologic fractures
    • Osteopenia/Osteoporosis
    • Growth delay
There are hallmark signs and symptoms of ASMD
Suspect ASMD? Testing is simple2
References:
  1. Reference #1
  2. Reference #2
  3. Reference #3