Living with Autosomal recessive cerebral atrophy
A rare inherited brain condition that begins in infancy, with loss of developmental skills and seizures.
Understanding Autosomal recessive cerebral atrophy
The brain's fluid spaces are enlarged, and the cerebral cortex shrinks. Signs in early infancy include a small head, irritability, loss of developmental skills, feeding difficulties, stiff muscles, vision problems, and seizures. Muscle tone is low in the trunk and high in the arms and legs.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Small head size (microcephaly)
- Irritability
- Loss of developmental skills
- Feeding difficulties
- Stiff muscles (spasticity)
- Seizures
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 TMPRSS4 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 TMPRSS4 gene. 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 Autosomal recessive cerebral atrophy.
Explore research for Autosomal recessive cerebral atrophy
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