Portal de investigación
Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.
Fecha de publicación:
Fecha Ahead of Print:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Domínguez-González C
- Barba Romero MÁ
- Caballero Eraso C
- de Las Heras J
- Farrero Muñoz E
- García-Campos Ó
- González M
- Grau JM
- Hernández-Voth A
- Juntas Morales R
- León Hernández JC
- Ley Martos M
- López-Padilla D
- Nascimento A
- Olivé M
- Paradas C
- Pardo Fernández J
- Pascual SI
- Sancho J
- Díaz-Manera J
Grupos
Abstract
Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a progressive accumulation of intralysosomal glycogen occurs in various tissues, causing smooth, cardiac and skeletal muscle involvement. When the age of onset of the disease is after the first year of life, it is called late-onset Pompe disease (LOPD). Weakness of the axial and proximal waist muscles and respiratory dysfunction are common manifestations. Enzyme replacement therapy (ERT) has been available for more than 15 years and is the standard treatment. This therapy changes the course of the disease, although the effectiveness of the treatment reduces over time. New enzyme therapies represent new treatment opportunities for patients with LOPD. Here we present updated recommendations from a group of experts in Pompe disease on the diagnosis, treatment and follow-up of LOPD patients, with the aim of providing a guide for the clinical management of the disease.
Copyright © 2025 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.
Datos de la publicación
- ISSN/ISSNe:
- 2173-5808, 2173-5808
- Tipo:
- Article
- Páginas:
- 501933-501933
- PubMed:
- 41453611
Neurologia
Documentos
- No hay documentos
Filiaciones
Keywords
- Acid alpha glucosidase; Afectación respiratoria; Alfa glucosidasa ácida; Debilidad muscular; Enfermedad de Pompe; Enzyme replacement therapy; Inicio tardío; Late onset; Muscular weakness; Pompe disease; Respiratory involvement; Terapia enzimática sustitutiva
Cita
Domínguez C,Barba MÁ,Caballero C,de Las Heras J,Farrero E,García Ó,González M,Grau JM,Hernández A,Juntas R,León JC,Ley M,López D,MUELAS N,Nascimento A,Olivé M,Paradas C,Pardo J,Pascual SI,PITARCH I,Sancho J,Díaz J. Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease. Neurologia (Engl Ed). 2025. 41. (2):p. 501933-501933.