What is OBSOLETE: Channelopathy due to a neuronal glycine receptor defect?
Channelopathy due to a neuronal glycine receptor defect, also known as hyperekplexia or startle disease, refers to a group of rare neurological disorders caused by dysfunction of glycine receptors in the central nervous system. Glycine is a major inhibitory neurotransmitter in the brainstem and spinal cord, and defects in glycine receptor subunits (most commonly GLRA1, but also GLRB) or associated proteins lead to impaired inhibitory neurotransmission. This Orphanet entry (ORPHA:98122) is classified as obsolete, as the conditions it encompassed have been reclassified under more specific disease entities, primarily hyperekplexia (startle disease). The hallmark clinical feature is an exaggerated startle response to unexpected stimuli, particularly tactile or auditory. In neonates, this can manifest as severe stiffness (hypertonia), episodes of apnea, and feeding difficulties. Affected infants may experience life-threatening episodes of sustained stiffness with apnea. As children grow, the hypertonia typically improves, but the excessive startle response persists into adulthood and can lead to falls and injuries. Some patients may also experience nocturnal myoclonus. Treatment is primarily symptomatic. Clonazepam, a benzodiazepine that enhances GABAergic inhibition, is the most commonly used medication and is effective in reducing startle episodes and stiffness in many patients. In neonates experiencing acute stiffness episodes, gentle flexion of the head and limbs (the Vigevano maneuver) can be a life-saving intervention. Genetic counseling is recommended for affected families, as both autosomal dominant and autosomal recessive inheritance patterns have been described depending on the specific gene and mutation involved.
- Inheritance
- Variable
- Can be inherited in different ways depending on the underlying gene
- 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 OBSOLETE: Channelopathy due to a neuronal glycine receptor defect.
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 OBSOLETE: Channelopathy due to a neuronal glycine receptor defect 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 OBSOLETE: Channelopathy due to a neuronal glycine receptor defect.
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 OBSOLETE: Channelopathy due to a neuronal glycine receptor defect.
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Start the conversation →Latest news about OBSOLETE: Channelopathy due to a neuronal glycine receptor defect
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Common questions about OBSOLETE: Channelopathy due to a neuronal glycine receptor defect
What is OBSOLETE: Channelopathy due to a neuronal glycine receptor defect?
Channelopathy due to a neuronal glycine receptor defect, also known as hyperekplexia or startle disease, refers to a group of rare neurological disorders caused by dysfunction of glycine receptors in the central nervous system. Glycine is a major inhibitory neurotransmitter in the brainstem and spinal cord, and defects in glycine receptor subunits (most commonly GLRA1, but also GLRB) or associated proteins lead to impaired inhibitory neurotransmission. This Orphanet entry (ORPHA:98122) is classified as obsolete, as the conditions it encompassed have been reclassified under more specific diseas
At what age does OBSOLETE: Channelopathy due to a neuronal glycine receptor defect typically begin?
Typical onset of OBSOLETE: Channelopathy due to a neuronal glycine receptor defect is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about OBSOLETE: Channelopathy due to a neuronal glycine receptor defect
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is OBSOLETE: Channelopathy due to a neuronal glycine receptor defect?
OBSOLETE: Channelopathy due to a neuronal glycine receptor defect is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:98122). It is typically inherited as variable. Age of onset is generally neonatal. For verified primary sources, see the UniteRare OBSOLETE: Channelopathy due to a neuronal glycine receptor defect page.
How is OBSOLETE: Channelopathy due to a neuronal glycine receptor defect inherited?
OBSOLETE: Channelopathy due to a neuronal glycine receptor defect follows variable 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 OBSOLETE: Channelopathy due to a neuronal glycine receptor defect?
Approved treatments for OBSOLETE: Channelopathy due to a neuronal glycine receptor defect 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 OBSOLETE: Channelopathy due to a neuronal glycine receptor defect?
Active clinical trials for OBSOLETE: Channelopathy due to a neuronal glycine receptor defect 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 OBSOLETE: Channelopathy due to a neuronal glycine receptor defect?
Verified OBSOLETE: Channelopathy due to a neuronal glycine receptor defect 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 OBSOLETE: Channelopathy due to a neuronal glycine receptor defect page for complete clinical details, sources, and verified-specialist listings.
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