Overview
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (also called PURA syndrome or PURA-related neurodevelopmental disorder) is a rare genetic condition caused by a change (point mutation) in the PURA gene. This gene provides instructions for making a protein that is essential for normal brain development and function. When this gene does not work properly, it leads to serious problems that are usually noticeable from birth or very early in life. Babies with this condition typically have very low muscle tone (hypotonia), meaning their muscles are unusually floppy and weak. They often have difficulty feeding, breathing problems, and seizures that can begin in the newborn period. Many children experience significant developmental delays, meaning they are slow to reach milestones like sitting, crawling, walking, and talking. Intellectual disability ranging from moderate to severe is common. Some children also develop movement abnormalities, excessive hiccups, and sleep disturbances. There is currently no cure for PURA syndrome. Treatment focuses on managing symptoms and supporting development. This may include anti-seizure medications, physical therapy, occupational therapy, speech therapy, and feeding support. Some children require a feeding tube to ensure adequate nutrition. With comprehensive supportive care, many individuals can make developmental progress, though the degree of improvement varies widely from person to person.
Key symptoms:
Severe low muscle tone (floppiness) from birthSeizures, often starting in the newborn periodDifficulty feeding and swallowingBreathing problems, including episodes of stopping breathing (apnea)Significant developmental delaysIntellectual disabilityDelayed or absent speechDifficulty walking or inability to walk independentlyExcessive hiccupsSleep disturbancesAbnormal movements or involuntary movementsConstipation and other digestive problemsVision problemsLow body temperature regulation issuesExaggerated startle response
Clinical phenotype terms (38)— 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 due to a point mutation.
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Specialists
View all specialists →No specialists are currently listed for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.
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 due to a point mutation.
Community
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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 mutation does my child have, and does it affect the expected severity of symptoms?,What seizure medications are recommended, and what side effects should I watch for?,Does my child need a feeding evaluation or a feeding tube?,What therapies (physical, occupational, speech) should we start, and how often?,Should we have genetic counseling to understand the chance of this happening in future pregnancies?,Are there any clinical trials or research studies my child could participate in?,What emergency plan should we have in place for prolonged seizures or breathing problems?
Common questions about PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
What is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation?
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (also called PURA syndrome or PURA-related neurodevelopmental disorder) is a rare genetic condition caused by a change (point mutation) in the PURA gene. This gene provides instructions for making a protein that is essential for normal brain development and function. When this gene does not work properly, it leads to serious problems that are usually noticeable from birth or very early in life. Babies with this condition typically have very low muscle tone (hypotonia), meaning their muscles are unusually floppy and weak.
How is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation inherited?
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 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 due to a point mutation typically begin?
Typical onset of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is neonatal. Age of onset can vary across affected individuals.