Living with Acid sphingomyelinase deficiency
An inherited condition with a range of severity, affecting organs like the liver, spleen, and lungs, sometimes with nervous system symptoms.
Understanding Acid sphingomyelinase deficiency
Symptoms range along a spectrum. The more severe end, once called Niemann-Pick disease type A, involves an enlarged liver and spleen and rapid nervous system decline. The milder end, once called type B, is a later-onset, long-term condition with enlarged liver and spleen and lung problems. Some people fall in between, called type A/B.
Signs & symptoms
GARD doesn't list a symptom list for this condition yet. The summary describes these features:
- Enlarged liver and spleen
- Nervous system decline (severe type)
- Lung problems (milder type)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SMPD1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Acid sphingomyelinase deficiency.
Explore research for Acid sphingomyelinase deficiency
Explore actively recruiting Acid sphingomyelinase deficiency studies with HealthSpark.
Find actively recruiting studies for Acid sphingomyelinase deficiency with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Acid sphingomyelinase deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Acid sphingomyelinase deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Acid sphingomyelinase deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.