Overview
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, also known as PURA syndrome, is a rare genetic condition caused by changes (mutations) in the PURA gene. This gene plays an important role in brain development and function. Babies with this condition are typically born with very low muscle tone (hypotonia), meaning their muscles are unusually floppy and weak. This can make feeding, breathing, and movement very difficult from birth. Many children also develop seizures and a condition called encephalopathy, which means the brain does not function as expected, leading to developmental delays and intellectual disability. Most cases occur due to a new (de novo) mutation, meaning the genetic change happened for the first time in the child and was not inherited from either parent. The severity of symptoms can vary from person to person, but most individuals experience significant developmental challenges including delayed speech, difficulty walking, and learning disabilities. Some children may also have breathing problems, visual issues, and gastrointestinal difficulties. There is currently no cure for PURA syndrome. Treatment focuses on managing symptoms and supporting development. This includes physical therapy, occupational therapy, speech therapy, and medications to control seizures. With early intervention and supportive care, many children can make meaningful progress in their development, though most will need lifelong support. Research into this condition is ongoing, and the medical community continues to learn more about how best to help affected individuals.
Key symptoms:
Severe low muscle tone (floppiness) from birthSeizuresDifficulty feeding and swallowingBreathing problems, including episodes of stopping breathing (apnea)Intellectual disabilityDelayed speech and language developmentDelayed motor milestones such as sitting and walkingExcessive sleepiness or drowsinessInvoluntary eye movements (nystagmus)Vision problemsConstipation and other digestive issuesExaggerated startle responseRepetitive movementsBone and skeletal abnormalities such as hip problems or scoliosisDifficulty regulating body temperature
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome.
Community
No community posts yet. Be the first to share your experience with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome.
Start the conversation →Latest news about PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
No recent news articles for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of PURA gene mutation does my child have, and does it tell us anything about how severe the condition might be?,What seizure medications are recommended, and what side effects should I watch for?,What therapies (physical, occupational, speech) should we start, and how often?,Are there any clinical trials or research studies for PURA syndrome that my child might be eligible for?,What feeding and nutrition plan do you recommend, and should we consider a feeding tube?,How should we monitor breathing, especially during sleep?,What is the long-term outlook for my child, and what milestones can we realistically hope for?
Common questions about PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
What is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome?
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, also known as PURA syndrome, is a rare genetic condition caused by changes (mutations) in the PURA gene. This gene plays an important role in brain development and function. Babies with this condition are typically born with very low muscle tone (hypotonia), meaning their muscles are unusually floppy and weak. This can make feeding, breathing, and movement very difficult from birth. Many children also develop seizures and a condition called encephalopathy, which means the brain does not function as expected, leading to de
How is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome inherited?
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome typically begin?
Typical onset of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome is neonatal. Age of onset can vary across affected individuals.