Living with Stormorken syndrome
A rare condition affecting many body systems, with low platelets, muscle weakness, and small pupils.
Understanding Stormorken syndrome
Most people have thrombocytopenia, which is a low platelet count that leads to easy bruising and bleeding. Many have a muscle disorder called tubular aggregate myopathy that causes weakness. Pupils stay narrow (miosis). Other features include no working spleen, scaly skin (ichthyosis), headaches, and dyslexia. It can begin at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low platelets with easy bruising and bleeding
- Muscle weakness
- Constantly narrow pupils (miosis)
- No working spleen (asplenia)
- Scaly skin (ichthyosis)
- Short stature
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 blood and bone marrow specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in STIM1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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 STIM1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: stormorken-sjaastad-langslet syndrome; strmk; thrombocytopathy-asplenia-miosis syndrome; thrombocytopathy, asplenia and miosis; thrombocytopathy, asplenia, and miosis
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 Stormorken syndrome.
Explore research for Stormorken syndrome
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