Key Assessment Guide for Glycogen Storage Diseases
Apply the principles from any neuromuscular condition to assessment of Pompe disease with a particular focus on the following areas:
- Capturing muscle weakness does not need to be via quantitative muscle testing and is best captured by assessing developmental milestones and function.
- Developmental Milestones: chart these using a suitable assessment such as Alberta Infant Motor Scale (AIMS).
- Pay attention to how they transition from positions.
- Function especially if severely affected could be captured in children using the Gross Motor Function Measure (GMFM)
- Range of motion can be severely affected in the infantile form of the disease and maybe affected in the milder form in children and adults. Therefore, appropriate capture of any limitation in range should be done.
- It is important to monitor the spine particularly in severely affected children where trunk weakness prior to puberty can lead to scoliosis.
- Fatigue – this can be an issue and monitoring how tired individual get through the course of a day and over a week can be useful as pacing advice around activity and exercise can form part of your intervention and management.
More information on QMFT Worksheets, GSGC Scales, Videos and Guides can be found in the Assessments Section.