Key Takeaway
Timed walking and stair measures predicted a study-defined ambulation outcome at group level, but the model is not a guaranteed timeline or a stand-alone forecast for an individual.
Evidence Summary
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
Longitudinal natural-history analysis relating timed motor tests to loss of functional ambulation in 97 people with LGMDR9.
cohortNatural HistoryTrial ReadinessFamilies
Citation: Miller CL, Coffey LN, Mockler SRH, et al. Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2026;13(6):1154-1159.
Main findings
- The analysis included 97 participants older than three years who had achieved ambulation; 55 were homozygous for c.826C>A.
- Thirty-one participants met the study definition of loss of functional ambulation during the available observation.
- Predictive analyses used repeated timed-test observations with at least three years of subsequent follow-up and accounted for genotype.
Practical relevance
- Supports the clinical and trial-readiness relevance of standardized timed motor outcomes.
- Results can frame questions about prognosis and outcome selection but require clinical interpretation alongside the person’s broader function and health.
Limitations and cautions
- Only 31 participants reached the outcome, follow-up length varied, and 13 participants had one visit.
- Travel to the study site may have selected for people with milder disease, and newer outcome measures lacked sufficient follow-up.
- Group estimates and model cut points do not determine an individual prognosis or define care decisions.
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