What is Sporadic hyperekplexia?
Sporadic hyperekplexia does not yet have FDA-approved treatments tracked on UniteRare.
Key symptoms:
Exaggerated startle response to sudden sounds or touchSudden body stiffness when startledFalling down after being startledIncreased muscle tone or stiffnessJerking movements of the arms and legsDifficulty breathing in newborns during stiffening episodesNose tapping triggers a startle responseTemporary inability to move after being startledFrequent unexplained fallsSleep disturbancesAnxiety related to being startledBrief loss of voluntary movement after a startle
- Inheritance
- Sporadic
- Usually appears on its own, not inherited from a parent
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Sporadic hyperekplexia.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Sporadic hyperekplexia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Sporadic hyperekplexia.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Sporadic hyperekplexia.
Community
No community posts yet. Be the first to share your experience with Sporadic hyperekplexia.
Start the conversation →Latest news about Sporadic hyperekplexia
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Sporadic hyperekplexia.
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.How severe is my child's (or my) hyperekplexia, and what is the expected course over time?,What medication do you recommend, and what side effects should I watch for?,Should genetic testing be done, and what would the results mean for our family?,Can you teach me the Vigevano maneuver for managing stiffening episodes?,What precautions should be taken at school or work to prevent injuries from startle-related falls?,Are there situations where I should call emergency services during an episode?,Will my child likely outgrow this condition, or will lifelong treatment be needed?
Common questions about Sporadic hyperekplexia
What is Sporadic hyperekplexia?
Sporadic hyperekplexia, also known as sporadic startle disease, is a rare neurological condition in which a person has an exaggerated startle response to unexpected stimuli such as sudden noises, touches, or movements. Unlike the inherited forms of hyperekplexia, the sporadic form occurs without a clear family history of the condition, meaning it appears to arise by chance rather than being passed down from parents. In this condition, the brain and spinal cord have trouble regulating the normal startle reflex. When startled, a person may experience sudden, intense stiffening of the body, espe
How is Sporadic hyperekplexia inherited?
Sporadic hyperekplexia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Sporadic hyperekplexia typically begin?
Typical onset of Sporadic hyperekplexia is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Sporadic hyperekplexia
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Sporadic hyperekplexia?
Sporadic hyperekplexia is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:306776). It is typically inherited as sporadic. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Sporadic hyperekplexia page.
How is Sporadic hyperekplexia inherited?
Sporadic hyperekplexia follows sporadic inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Sporadic hyperekplexia?
Approved treatments for Sporadic hyperekplexia are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Sporadic hyperekplexia?
Active clinical trials for Sporadic hyperekplexia are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Sporadic hyperekplexia?
Verified Sporadic hyperekplexia specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Sporadic hyperekplexia page for complete clinical details, sources, and verified-specialist listings.
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