Guía clínica de la enfermedad de Pompe de inicio tardío

Barba-Romero, Miguel Ángel; Barrot, Emilia; Bautista-Lorite, Juan; Gutiérrez-Rivas, Eduardo; Illa, Isabel; Jiménez, Luís; Ley-Martos, Myriam; Munáin, Adolfo López de; Pardo, J. Marín; Pascual-Pascual, Samuel Ignacio; Pérez‐López, Jordi; Solera, Jesús; Vílchez-Padilla, Juan J

doi:10.33588/rn.5408.2012088

Cited by 28 publications

(19 citation statements)

References 43 publications

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“…According to a guideline on management of LOPD, general medical care recommendations also include optimizing nutritional status and other behavioral therapies such as thickeners and exercise [97] .…”

Section: Pompe's Diseasementioning

confidence: 99%

Dysphagia in adult myopathies

Argov

Visser

2021

Neuromuscular Disorders

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Dysphagia (impaired swallowing) is not a rare problem in various neuromuscular disorders, both in the pediatric and the adult patient population. On many occasions such patients are first presented to other medical specialists or health professionals. Disorders of deglutition are probably underrecognized in patients with a neuromuscular disease as a result of patient's and doctor's delay.This review will focus on dysphagia in adults suffering from a myopathy. Dysphagia in myopathies usually affects the oropharyngeal phases which rely mostly on voluntary muscle activity of the mouth, pharynx and upper esophageal sphincter. Dysphagia is known to contribute to a reduction of quality of life and may also lead to increased morbidity and mortality. The review includes an overview on symptomatology and tools of assessments, and elaborates on dysphagia in specific hereditary and acquired myopathies.

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Section: Pompe's Diseasementioning

confidence: 99%

Dysphagia in adult myopathies

Argov

Visser

2021

Neuromuscular Disorders

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“…Los objetivos principales del seguimiento de la en fermedad de Pompe de inicio tardío son valorar la evolución de la enfermedad y la eficacia del trata miento con mediciones estandarizadas. El control de la evolución es básico para decidir el comienzo del tratamiento con TES en pacientes previamente asintomáticos [6].…”

Section: Objetivos Y Generalidades Del Seguimientounclassified

“…Por último, se controlarán la seguridad y la tolera bilidad del TES. También hay varias recomendacio nes [6] que han de tenerse en cuenta no sólo en las primeras visitas del paciente, sino también durante el seguimiento (Tabla I).…”

Section: Objetivos Y Generalidades Del Seguimientounclassified

“…También se ha diseñado una escala compuesta denominada Gait, Stairs, Gowers, Chair, diseñada por un consorcio italiano y que es específica para adul tos con enfermedad de Pompe tardía [23]. Pese a que Tabla I. Recomendaciones generales para el seguimiento de los pacientes con enfermedad de Pompe de inicio tardío [6].…”

Section: Escalas Funcionales Compuestasunclassified

“…No obstante, los datos más recientes indican que la afectación de la masa ósea no es tan importante [38], y que el TES aumenta la densidad mineral ósea. Sin embargo, se recomienda efectuar una densitometría en la valoración inicial y repetir la al menos cada dos años [6].…”

Section: Otras Pruebasunclassified

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Guía para el seguimiento de la enfermedad de Pompe de inicio tardío

Gutiérrez-Rivas

Illa²,

Pascual-Pascual³

et al. 2015

RevNeurol

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Guidelines for monitoring late-onset Pompe disease Summary. 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.

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Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease

Martinez‐Montoya,

Sánchez‐Sánchez,

Sandoval‐Pacheco

et al. 2024

Molec Gen & Gen Med

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BackgroundPompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.MethodsWe performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency.ResultsTwenty‐nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.‐32‐13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency‐related benign alleles. We identified two novel variants (c.1615 G>A and c.1076‐20_1076‐4delAAGTCGGCGTTGGCCTG).ConclusionTo the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population‐wide studies are required to better characterize the incidence of this disease in Mexican population.

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Guía clínica de la enfermedad de Pompe de inicio tardío

Abstract: Declaración de intereses: Los autores agradecen a Genzyme S.L.U. el apoyo dado al comité para el desarrollo de este  Aceptado tras revisión externa: 15.02.12.

Cited by 28 publications

References 43 publications

Dysphagia in adult myopathies

Dysphagia in adult myopathies

Guía para el seguimiento de la enfermedad de Pompe de inicio tardío

Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease

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