FINDING A Diagnosis

An ASMD diagnosis is the first step to appropriately managing symptoms

Getting tested for ASMD is simple

If you are experiencing any signs and symptoms or a family member has been diagnosed get tested for ASMD

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

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ASMD is Inherited

KNOW YOUR RISK