Living with Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
A rare genetic condition starting in infancy with a small head, muscle stiffness, severe developmental delay, and changes in brain white matter.
Understanding Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
It causes a small head, severe developmental delay, and stiffness in the arms and legs that affects posture. Other features include an exaggerated startle reflex, seizures, muscle spasms (dystonia), a mask-like face, chest changes, and tight large joints. Brain imaging shows a thin corpus callosum and white matter changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Muscle spasms (dystonia)
- Tight joints (contractures)
- Delayed speech and language
- Exaggerated startle response
- Pauses in breathing (apnea)
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PLAA 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); Eye disease specialists (ophthalmologists); 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
GARD lists changes in the PLAA gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: phospholipase a2 activating protein-associated neurodevelopmental disorder; plaa-associated neurodevelopmental disorder; plaand; plaand - phospholipase a2 activating protein-associated neurodevelopmental disorder
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 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.
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