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July 3, 2018Orphanet Journal of Rare DiseasesOpen Access

6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies

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Why the study?

Does the 6-minute walk test objectively assess disease progression and fatigability over 6 months in individuals with RYR1-related myopathies?

Population

Individuals with RYR1-related myopathies (RYR1-RM)

Design

Cohort

Follow-up

6 months

Authors

JWJessica W. WitherspoonNational Institute of Nursing ResearchRVRuhi VasavadaUniversity of South FloridaMWM. WaiteNational Institutes of Health

Discussion

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Overview

Novel RYR1-RM mechanisms identified; leaves open targeted therapies for this rare neuromuscular disease.

Structured PICO

Does the 6-minute walk test objectively assess disease progression and fatigability over 6 months in individuals with RYR1-related myopathies?

P
Population
Individuals with RYR1-related myopathies (RYR1-RM)
I
Intervention
6-minute walk test (6MWT) assessment at baseline and 6 months
O
Outcome
Total distance traveled and percent change in speed during the 6-minute walk test at 0 and 6 monthssurrogate

The 6-minute walk test demonstrates disease stability over 6 months but reveals significant fatigability, suggesting its utility as an endpoint in therapeutic trials for RYR1-related myopathies.

Cite This Study

Witherspoon et al. (2018) studied this question.

synapsesocial.com/papers/6a70345d2fdcb5703edb560ahttps://doi.org/10.1186/s13023-018-0848-9
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Multi-minicore Disease2007 · 134 citations
  2. 2Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies2007 · 176 citations
  3. 3Comparison of walking performance over the first 2 minutes and the full 6 minutes of the Six-Minute Walk Test2014 · 112 citations
  4. 4Fatigue in neuromuscular disorders: focus on Guillain–Barré syndrome and Pompe disease2009 · 94 citations