Limb Girdle Muscular Dystrophy comprise a group of disorders made up of over 30 mutations which share a common phenotype of progressive weakness of the shoulder and hip girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one of the four most common muscular dystrophies. The overall goal of project 1 is to define the key phenotypes as measured by standard clinical outcome assessments (COAs) for limb girdle muscular dystrophies (LGMD) to hasten therapeutic development.
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Change in mobility
Timeframe: Baseline to 12 months
Change in motor performance
Timeframe: Baseline to 12 months
Change in upper limb function characteristics
Timeframe: Baseline to 12 months
Change in Forced vital capacity (FVC)
Timeframe: Baseline to 12 months
Changes in Forced expiratory volume (FEV1)
Timeframe: Baseline to 12 months
Change in activity limitations
Timeframe: Baseline to 12 months
Change in self-reported physical health
Timeframe: Baseline to 12 months
Change in overall health
Timeframe: Baseline to 12 months