Sanofi

How is ASMD diagnosed?

Diagnostic testing is initiated when a doctor suspects their patient may have ASMD based on their signs and symptoms. Enzyme testing for ASMD The recommended method for diagnosing ASMD is a blood test that measures the activity of an enzyme called acid sphingomyelinase (sfin-goh-my-uh-lin-ase), or ASM.

What causes ASMD?

ASMD is a sphingomyelinase deficiency disease caused by changes in a gene called SMPD1. The role of the SMPD1 gene is to produce the ASM enzyme. Changes in the SMPD1 gene can prevent the body from being able to make enough ASM. ASM is needed to break down a fatty substance called sphingomyelin (sfin-goh-my-uh-lin). Without enough ASM, sphingomyelin builds up in major organs such as the liver, lungs, and spleen.

What are the symptoms of ASMD?

ASMD can affect multiple organs and body systems (groups of organs that work together to perform specific functions).

How is ASMD managed?

Because ASMD affects many parts of the body, care plans usually involve a team of specialists to manage all the different symptoms.1 Taking an active role in symptom management can give you a greater sense of control. Your healthcare team is your best resource for support and guidance and will help create a care plan that fits your personal needs.