Pompe disease affects multiple body systems. Learn which specialists you need and what follow-up tests are important.
Optimal management of Pompe disease requires a coordinated team of specialists:
• **Neurologist**: Muscle assessment, EMG, functional tests
• **Pulmonologist**: Lung function, ventilatory management
• **Rehabilitation specialist/Physiotherapist**: Exercise program and functional maintenance
• **Dietitian**: High-protein diet, weight management
• **Psychologist**: Emotional support and adaptation
• **Cardiologist**: Especially in infantile-onset forms
• **Speech-language therapist**: If there are swallowing problems
• **Social worker**: Benefits, disability, resources
Follow-up of Pompe disease includes periodic assessments:
• **Lung function**: Spirometry sitting and supine, forced vital capacity (FVC)
• **Muscle function**: 6-minute walk test (6MWT), MRC scale, timed get-up test
• **Laboratory**: CK, transaminases, biomarkers (Hex4)
• **Sleep studies**: Polysomnography if nocturnal hypoventilation is suspected
• **Nutritional assessment**: Weight, body composition, protein intake
• **Quality of life**: Validated questionnaires (SF-36, R-PAct, etc.)
The frequency of check-ups depends on clinical progression, but as a general guide:
• Every 6 months: lung function, functional muscle tests, blood work
• Annually: comprehensive multidisciplinary evaluation
• As needed: treatment adjustments, complications
It is important to keep a record of your tests and results. The Health Tracking section of this platform can help you stay on top of this.
Bibliography under review by the Foundation's clinical team.
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