ASMD education for you
What is acid sphingomyelinase deficiency (ASMD)?
Acid sphingomyelinase deficiency (ASMD) is a rare genetic condition that runs in families. It has historically been known as Niemann-Pick disease types A, A/B, and B.
Like all LSDs, ASMD is life-long and progressive, meaning it can get worse over time. Symptoms often go unrecognized and misdiagnosed; however, the earlier ASMD is diagnosed, the sooner it can be appropriately managed.
If you think you or a family member may have ASMD, talk to a doctor about possible next steps such as getting tested.
What causes ASMD?
ASMD is caused by alterations in the SMPD1 gene. This gene produces an enzyme called acid sphingomyelinase, or ASM. Alterations in the SMPD1 gene result in reduced ASM production.
ASM is responsible for breaking down a substance called sphingomyelin. Reduced ASM can result in a buildup of sphingomyelin, which can cause damage to and enlargement of organs throughout the body.
What are common ASMD symptoms?
ASMD can affect multiple organs and parts of the body, and symptoms can vary from person to person. Signs and symptoms may start at any time, from infancy to adulthood. Each person’s experience with the condition may be different. Common symptoms can include:
- Developmental delays
- Chronic fatigue
- Protruding abdomen due to enlarged spleen and/or liver
- Coughing and difficulty breathing due to lung scarring and infections
- Easy bruising and bleeding due to decreased platelets
- Decreased muscle tone
- Tingling in hands and feet
- Back, limb, and/or joint pain
- Frequent bone fractures due to weakening of bones (osteopenia and osteoporosis)
- Abdominal pain and diarrhea
- Heart issues
- Poor muscle control that impacts movement
*These are not all possible symptoms, nor do all patients have all the listed symptoms.
Who does ASMD affect?
ASMD can affect males and females of all ages. The estimated prevalence of ASMD is 1 in 127,000 live births. All types of ASMD can be found in people of any ethnicity. Type A occurs more frequently among the Ashkenazi Jewish population, with an estimated incidence rate of 1 in 40,000.
How is ASMD inherited?
ASMD is an autosomal recessive condition, meaning it takes alterations in each copy of the SMPD1 gene to cause ASMD. Children inherit two copies of each gene from their biological parents (one copy from the mother, one copy from the father).
A person who has a single altered SMPD1 gene is called a carrier. They do not have the condition or experience symptoms.
When both parents are carriers, with each birth there is a 25% chance that their child will have ASMD; 25% chance that their child will not have ASMD or carry the altered SMPD1 gene; and 50% chance that their child will carry the altered SMPD1 gene without having the condition.
Sign up for personalized support
At CareConnect, we offer personalized support and resources to help you and your family navigate life with ASMD. Your Patient Education Liaison (PEL) can assist you with disease and Sanofi treatment education, and information about inheritance patterns, genetic assessment and testing options. Your Case Manager can talk to you about health insurance, financial assistance, and care coordination.
Keep in mind: Your healthcare team is always the best source of information and point of contact if you have any questions or concerns about your health.
If you’re not enrolled and interested in speaking with a CareConnect team member, a Case Manager is available to speak with you Monday through Friday, 8AM-6PM EST.
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Call 1-800-745-4447 or email info@CareConnectPSS.com.
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Explore more resources
Learn more about ASMD at asmdfacts.com
MAT-US-2409352-v1.0-11/2024. Last Updated: November 2024