[Guidelines for monitoring late-onset Pompe disease.Sociedad Española de Medicina Interna (SEMI), Sociedad Española de Neurología (SEN) y Sociedad Española de Neumología y CirugíaTorácica (SEPAR)].

Abstract

Although treatment with alglucosidase alfa has helped improve the prognosis of patients with late-onset Pompe disease, both the development of the disease and the effectiveness of the treatment need to be monitored on a regular basis. This is the reason that has led a committee of Spanish experts to draw up a series of guidelines on how to follow up these patients. The committee proposes a model of follow-up tests for late-onset Pompe disease. First of all, the nutritional status and swallowing function must be evaluated. Second, and due to the variability of the clinical features, the committee recommends the simultaneous use of several scales to measure different functions and parameters. Thus, muscular force is assessed with the Medical Research Council scale; motor functioning, with the six-minute walk test and timed tests; disability, with the Rasch-built Pompe-specific Activity scale; respiratory functioning, with measurement of the forced vital capacity and oxygen saturation; and fatigue, with the fatigue intensity scale. Lastly, the safety and tolerability of enzyme replacement therapy are controlled by registering and treating the potential side effects and measurement of the anti-alglucosidase alfa antibodies. A number of different general recommendations are also included.

• Authors: Eduardo Gutiérrez-Rivas, Isabel Illa, Samuel I Pascual-Pascual, Jordi Pérez-López, Juan J Vílchez-Padilla, Juan Bautista-Lorite, Emilia Barrot, Adolfo López de Munain, Sociedad Española de Medicina Interna, Sociedad Española de Neurología, Sociedad Española de Neumología y CirugíaTorácica
• Journal: Revista de neurologia (Rev Neurol) Vol. 60 Issue 7 Pg. 321-8 (Apr 01 2015) ISSN: 1576-6578 [Electronic] Spain
• Vernacular Title: Guía para el seguimiento de la enfermedad de Pompe de inicio tardío.
• PMID: 25806482 (Publication Type: English Abstract, Journal Article, Practice Guideline, Research Support, Non-U.S. Gov't)

Chemical References

• Biomarkers
• Recombinant Proteins
• Glucan 1,4-alpha-Glucosidase

Topics

• Adolescent
• Age of Onset
• Biomarkers
• Child
• Digestive System Diseases (etiology)
• Disability Evaluation
• Disease Management
• Drug Monitoring
• Enzyme Replacement Therapy
• Glucan 1,4-alpha-Glucosidase (deficiency, therapeutic use)
• Glycogen Storage Disease Type II (classification, complications, drug therapy, epidemiology)
• Humans
• Magnetic Resonance Imaging
• Muscle Strength
• Nutritional Status
• Recombinant Proteins (therapeutic use)
• Severity of Illness Index
• Vital Capacity