Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
| Autor: | Jessica Expósito-Escudero, Cristina Jou, J. Corbera, Daniel Cuadras, Obdulia Moya, Julita Medina, Daniel Natera-de Benito, Veronica Saez, Jaume Colomer, Lidia Gonzalez-Quereda, Edna Julieth Bobadilla-Quesada, María Eugenia Yoldi, Cecilia Jimenez-Mallebrera, Pia Gallano, Carlos Ortez, Laura Carrera-García, Andrés Nascimento, A. Codina |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty Scoliosis Disease Muscular Dystrophies Congenital myasthenic syndrome 03 medical and health sciences 0302 clinical medicine medicine Humans Term effect In patient Muscular dystrophy Dystroglycans Genetics (clinical) Pyridostigmine Myasthenic Syndromes Congenital business.industry medicine.disease Nucleotidyltransferases Response to treatment Dystroglycanopathy 030104 developmental biology Muscular Dystrophies Limb-Girdle Neurology Pediatrics Perinatology and Child Health Female Gmppb Neurology (clinical) business Motor functional scales 030217 neurology & neurosurgery Pyridostigmine Bromide medicine.drug |
| Zdroj: | NEUROMUSCULAR DISORDERS r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau) r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu |
| ISSN: | 0960-8966 |
| Popis: | GMPPB mutations cause congenital myasthenic syndromes (CMS) overlapping with muscular dystrophy. Treatment with pyridostigmine has been reported to be effective in those patients. Nevertheless, results of functional motor assessments to determine its precise impact on the short and long term were not available. We describe the response to treatment with pyridostigmine in three siblings with GMPPB-related CMS using functional motor scales performed regularly over a period of 40 months. The beneficial effect of the treatment was outstanding within the first hours, with all the scales showing a dramatic increase in only two days. This remarkable improvement remained steady during 12 months but a moderate decrease was subsequently detected in two of the three patients. Despite this decline in the scores of the scales at the end of follow up, the functional motor status of the patients was still significantly better than it was before starting treatment. The introduction of pyridostigmine at an early age of the disease in one of the patients, before the onset of scoliosis, may have had a protective effect on it. (C) 2020 Elsevier B.V. All rights reserved. |
| Databáze: | OpenAIRE |
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