Living with Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
A rare genetic condition starting in infancy with a small head, low muscle tone, seizures, and profound developmental delay.
Understanding Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
It causes global developmental delay and profound intellectual disability. Features can include low muscle tone, muscle stiffness, tight joints, seizures, breathing problems, and optic atrophy. The head is small, and facial features can include a tall forehead and high-arched palate. Brain imaging may show loss of brain tissue and delayed myelination.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Seizures
- Little or no speech
- Low muscle tone in the trunk
- Stiff arms and legs (spastic tetraparesis)
- Feeding difficulties in infancy
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 PRUNE1 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
GARD lists changes in the PRUNE1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: nmihba; prune exopolyphosphatase 1-related neurological syndrome; prune1-related neurological 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 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.
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