Progression of GNE myopathy based on the patient-reported outcome

Young Eun Park, Dae Seong Kim, Youngchul Choi, Jin Hong Shin

Research output: Contribution to journalArticle

Abstract

Background and Purpose GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology. The initial symptom of foot drop or hip-girdle weakness eventually spreads to all limbs over a period of decades. Recent advances in pathophysiologic research have facilitated therapeutic trials aimed at resolving the core biochemical defect. However, there remains unsettled heterogeneity in its natural course, which confounds the analysis of therapeutic outcomes. We performed the first large-scale study of Korean patients with GNE myopathy. Methods We gathered the genetic and clinical profiles of 44 Korean patients with genetically confirmed GNE myopathy. The clinical progression was estimated retrospectively based on a patient-reported questionnaire on the status of the functional joint sets and daily activities. Results The wrist and neck were the last joints to lose antigravity functionality irrespective of whether the weakness started from the ankle or hip. Two-thirds of the patients could walk either independently or with an aid. The order of losing daily activities could be sorted from standing to eating. Patients with limb-girdle phenotype showed an earlier age at onset than those with foot-drop onset. Patients with biallelic kinase domain mutations tended to progress more rapidly than those with epimerase and kinase domain mutations. Conclusions The reported data can guide the clinical management of GNE myopathy, as well as provide perspective to help the development of clinical trials.

Original languageEnglish
Pages (from-to)275-284
Number of pages10
JournalJournal of Clinical Neurology (Korea)
Volume15
Issue number3
DOIs
Publication statusPublished - 2019 Jul 1

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Muscular Diseases
Mutation
Hip
Foot
Phosphotransferases
Extremities
Joints
Racemases and Epimerases
Vacuoles
Wrist
Age of Onset
Ankle
Patient Reported Outcome Measures
Neck
Eating
Clinical Trials
Pathology
Phenotype
Muscles
Therapeutics

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Park, Young Eun ; Kim, Dae Seong ; Choi, Youngchul ; Shin, Jin Hong. / Progression of GNE myopathy based on the patient-reported outcome. In: Journal of Clinical Neurology (Korea). 2019 ; Vol. 15, No. 3. pp. 275-284.
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Progression of GNE myopathy based on the patient-reported outcome. / Park, Young Eun; Kim, Dae Seong; Choi, Youngchul; Shin, Jin Hong.

In: Journal of Clinical Neurology (Korea), Vol. 15, No. 3, 01.07.2019, p. 275-284.

Research output: Contribution to journalArticle

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