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glycogen storage disease IXd

MeSH: C564485ORPHA: 715

Contents

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

Overview

glycogen storage disease IX characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material basis in mutation in the PHKA1 gene on chromosome Xq13

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 glycogen storage disease IXd, sourced from HPO and Orphanet clinical annotations.

CamptocormiaProgressive muscle weaknessElevated circulating creatine kinase concentrationMyalgiaEMG: myopathic abnormalitiesExercise intoleranceIncreased muscle glycogen contentFatigueReduced muscle phosphorylase kinase activityHyporeflexiaGait disturbanceMyoglobinuriaSkeletal muscle atrophyGowers signMuscle spasmDifficulty climbing stairs

Classification & Codes

MeSH Code

C564485

Orphanet Code

ORPHA:715
glycogen storage disease IXd
MeSHC564485
OrphanetORPHA:715
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO