Living with Desmosterolosis
A rare genetic condition with brain differences, developmental delay, and muscle stiffness.
Understanding Desmosterolosis
Children have delayed speech and motor skills such as sitting and walking. Some later walk with support, and speech is often limited to a few words or phrases. Common brain differences are an underdeveloped corpus callosum and loss of white matter. Many people have muscle stiffness and stiff joints in the hands and feet.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and motor skills
- Missing or underdeveloped corpus callosum
- Small head size (microcephaly)
- Cleft palate
- Crossed eyes (strabismus)
- Muscle stiffness (spasticity)
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in DHCR24 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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 DHCR24 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 Desmosterolosis.
Explore research for Desmosterolosis
Explore actively recruiting Desmosterolosis studies with HealthSpark.
Find actively recruiting studies for Desmosterolosis 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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