Living with Alkaline ceramidase 3 deficiency
A rare genetic condition of the brain's white matter that starts in infancy, with loss of movement and language skills.
Understanding Alkaline ceramidase 3 deficiency
Development of movement and language stops and then slips backward. Other nervous system features include low muscle tone in the trunk, stiff limbs, dystonia (twisting muscle movements), nerve damage, and bladder problems. People can also have stiff joints, short height, and distinct facial features. Brain imaging at later stages shows changes in white matter and shrinkage.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Development that stalls or slips backward
- Severe intellectual disability
- Stiff arms and legs (spasticity)
- Twisting muscle movements (dystonia)
- Absent reflexes
- Coarse facial features
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ACER3 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
- 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
Changes in the ACER3 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acer3-related early childhood-onset progressive leukodystrophy; leukodystrophy due to alkaline ceramidase 3 deficiency; leukodystrophy, progressive, early childhood-onset
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 Alkaline ceramidase 3 deficiency.
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