FINDING A Diagnosis

An ASMD diagnosis is the first step to appropriately managing symptoms

Getting tested for ASMD is simple

When should you get tested?

ASMD is diagnosed with one blood test

The recommended method for diagnosing ASMD is a blood test to measure the amount of ASM enzyme activity. A diagnosis of ASMD can be confirmed if the test shows decreased ASM enzyme activity.

Genetic testing may also be performed as additional confirmation to the enzyme blood test. If a family member has been diagnosed with ASMD, relatives should consider talking with their doctor about family screening.

Discussing ASMD with your doctor

It’s important to talk to your doctor about any questions or concerns you may have, including:

  • What symptoms you have been experiencing and for how long
  • Whether your symptoms have changed or worsened over time
  • How the symptoms you may be experiencing are currently being managed
  • If your symptoms keep you from participating in activities or negatively impact your personal and social life
  • If your parents or siblings have experienced similar symptoms or have been diagnosed with ASMD
Get to know the signs of ASMD
Get to know the Signs of ASMD
ASMD is inherited
ASMD is Inherited