Living with Early-onset calcifying leukoencephalopathy-skeletal dysplasia
A rare genetic condition that affects the brain and bones from childhood, with calcium deposits in the brain and denser bones.
Understanding Early-onset calcifying leukoencephalopathy-skeletal dysplasia
It begins in childhood. Brain scans may show calcium deposits, extra fluid, and differences in the structure of the brain. The bones can be denser than usual, in the skull, pelvis, and spine, with flattened spine bones and long bones that are shaped differently. Seizures and muscle stiffness can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Calcium deposits in the brain
- Extra fluid in the brain (hydrocephalus)
- Seizures starting in part of the brain
- Muscle stiffness (spasticity)
- Denser bones in the skull and spine
- Flattened spine bones (platyspondyly)
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 CSF1R are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy Foundation
- 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 United Leukodystrophy Foundation
- 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
GARD says changes in the CSF1R gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · United States
Broader rare-disease groups
- 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 Early-onset calcifying leukoencephalopathy-skeletal dysplasia.
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