Living with Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
A rare genetic brain condition causing a small head, seizures, and severe developmental delay from infancy.
Understanding Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
It causes a small head (microcephaly), severe developmental delays, intellectual disability, and seizures. People may also have an exaggerated startle response to sudden noise or movement (hyperekplexia), and muscle and movement problems. These include weak muscle tone in the trunk and stiffness in the arms and legs. Vision, feeding, and breathing difficulties can also occur. It begins in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormally small head (microcephaly)
- Seizures
- Global developmental delay
- Exaggerated startle response
- Feeding difficulties
- Increased muscle tone (hypertonia)
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 ASNS 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
- 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
It is caused by changes in the ASNS gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: asns deficiency; asparagine synthetase deficiency; congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome; congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
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 Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome.
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