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Related Experiment Video

Updated: Jan 7, 2026

A Simple and Low-cost Assay for Measuring Ambulation in Mouse Models of Muscular Dystrophy
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Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9.

Chandra L Miller1, Lauren N Coffey2, Shelley R H Mockler3

  • 1Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.

Annals of Clinical and Translational Neurology
|January 5, 2026
PubMed
Summary
This summary is machine-generated.

Loss of ambulation (LOA) in Limb Girdle Muscular Dystrophy type R9 (LGMDR9) is predictable using motor function tests. The 10-meter walk-run test and 4-stair climb effectively predict LOA in LGMDR9 patients.

Keywords:
FKRPdystroglycanopathylimb‐girdle muscular dystrophyloss of ambulation

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Area of Science:

  • Neurology
  • Genetics
  • Clinical Medicine

Background:

  • Limb girdle muscular dystrophy type R9 (LGMDR9) is caused by biallelic variants in the FKRP gene.
  • Limited data exists for predicting loss of ambulation (LOA) in LGMDR9 patients.

Purpose of the Study:

  • To predict the age of LOA in individuals with LGMDR9.
  • To evaluate the predictive ability of motor function tests for LOA in LGMDR9.

Main Methods:

  • A cohort of 97 LGMDR9 patients with FKRP variants, aged over 3 years, was studied.
  • LOA was defined by wheelchair use, inability to complete a 10-meter walk-run test (10MWT), or 10MWT time exceeding 30 seconds.
  • Interval-censored time-to-event analysis and receiver operating characteristic (ROC) curves were used to analyze LOA and predict it using 10MWT and 4-stair climb (4SC) times.

Main Results:

  • 31 out of 97 participants experienced LOA, with 49% being homozygous for the c.826C>A founder variant.
  • The median age of LOA for the cohort was 46.0 years, with the earliest onset at 9 years in non-homozygous individuals.
  • 10MWT and 4SC test times were highly predictive of LOA within 3 years (ROC AUCs of 0.89 and 0.87, respectively), with genotype-specific optimal cutoffs.

Conclusions:

  • Motor function tests, specifically the 10MWT and 4SC, are strong predictors of LOA in LGMDR9.
  • These findings highlight the clinical utility of standardized motor function tests in LGMDR9 clinical trials and for patient counseling.