Living with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
A genetic condition present at birth with very low muscle tone, feeding and breathing difficulty, seizures, and developmental delay.
Understanding PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Babies have very low muscle tone, which can make breathing and eating hard. Many need support such as help with breathing or feeding tubes. There are delays in development, and walking and talking ability varies. Seizures and exaggerated startle responses can occur. Some people have heart, urinary and genital, bone, or hormone issues.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very low muscle tone as a newborn
- Breathing difficulty
- Feeding difficulty in infancy
- Delays in development
- Seizures
- Exaggerated startle responses
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 PURA 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
PURA Syndrome 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: PURA Syndrome 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 PURA Syndrome 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
This condition is caused by changes in the PURA gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: autosomal dominant intellectual disability 31; intellectual disability, autosomal dominant type 31; mrd31; pura syndrome
Patient organizations
- PURA Syndrome FoundationPURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation · United States
You are more than your diagnosis
Perspectives from people navigating life with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.
Explore research for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Explore actively recruiting PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation studies with HealthSpark.
Find actively recruiting studies for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.