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Updated: May 3, 2026
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy
Marika Pane1, Elena S Mazzone1, Lavinia Fanelli1
1Child Neurology and Psychiatry Unit, Rome, Italy.
Insights
The Performance of Upper Limb scale reliably assesses Duchenne muscular dystrophy, identifying normative data in children and tracking disease progression from proximal to distal muscles. This tool is valuable for clinical trials in Duchenne patients.
Area of Science:
- Pediatric Neurology
- Musculoskeletal Disorders
- Clinical Assessment Tools
Background:
- Duchenne muscular dystrophy (DMD) significantly impacts upper limb function.
- Existing assessments may not capture functional nuances in DMD patients across all disease stages.
- The Performance of Upper Limb (PUL) scale was developed to address this gap.
Purpose of the Study:
- Establish normative data for the PUL scale in typically developing children aged 3-25 years.
- Determine the age of consistent achievement for PUL scale items.
- Evaluate the PUL scale's utility in a large cohort of 322 Duchenne muscular dystrophy patients.
Main Methods:
- Collected normative data from 277 typically developing children and young adults.
- Assessed 322 Duchenne muscular dystrophy patients across various age groups.
- Analyzed age-related achievement of PUL scale items and disease progression patterns.
Main Results:
- Typically developing children consistently achieved full PUL scores by age 5.
- Duchenne patients exhibited early proximal muscle involvement with a proximal-to-distal progression.
- The PUL scale detected subtle distal movements relevant to daily living, even in severely affected patients.
Conclusions:
- The PUL scale provides reliable normative data for upper limb function assessment.
- It effectively captures the progressive nature of Duchenne muscular dystrophy.
- The PUL scale is a validated outcome measure suitable for multicentric clinical trials in both ambulant and non-ambulant Duchenne patients.
Abstract:
The Performance of Upper Limb was specifically designed to assess upper limb function in Duchenne muscular dystrophy. The aim of this study was to assess (1) a cohort of typically developing children from the age of 3years onwards in order to identify the age when the activities assessed in the individual items are consistently achieved, and (2) a cohort of 322 Duchenne children and young adults to establish the range of findings at different ages. We collected normative data for the scale validation on 277 typically developing subjects from 3 to 25years old. A full score was consistently achieved by the age of 5years. In the Duchenne cohort there was early involvement of the proximal muscles and a proximal to distal progressive involvement. The scale was capable of measuring small distal movements, related to activities of daily living, even in the oldest and weakest patients. Our data suggest that the assessment can be reliably used in both ambulant and non ambulant Duchenne patients in a multicentric setting and could therefore be considered as an outcome measure for future trials.
