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hyperekplexia 1

MeSH: D000071017ORPHA: 3197

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with hyperekplexia 1, sourced from HPO and Orphanet clinical annotations.

AtaxiaSpasticityHypertoniaMyoclonusHyperreflexiaJoint stiffnessGastroesophageal refluxHiatus herniaRigidityFasciculationsMuscle stiffnessAbnormality of movementEsophagitisGait disturbanceUmbilical herniaSleep disturbanceHerniaIntellectual disabilitySeizureJoint dislocationHip dislocation

Classification & Codes

MeSH Code

D000071017

Orphanet Code

ORPHA:3197
hyperekplexia 1
MeSHD000071017
OrphanetORPHA:3197
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO