Development of a clinical diagnostic model for Bell's palsy in patients with facial muscle weakness

Autor: Hongzhu Li, Guangxian Chen, Guoan Lai, Shiyu Lin, Jingchun Zeng, Liming Lu, Yuemei Li, Shuxin Wang

Publikováno v: Biomolecules & Biomedicine (2024)

Early diagnosis of Bell's palsy is crucial for effective patient management in primary care settings. This study aimed to develop a simplified diagnostic tool to enhance the accuracy of identifying Bell's palsy among patients with facial muscle weakn

Externí odkaz: https://doaj.org/article/07cf2cc1cd2a453dbe15d01c9aa1bdad

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Paramyotonia congenita with persistent distal and facial muscle weakness: A case report with literature review

Autor: Ryogen Sasaki, Noriko Sato, Yuji Takahashi, Madoka Mori-Yoshimura, Tomoya Taminato, Yasushi Oya, Ichizo Nishino, Jun Miki

Introduction: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the predominant clinical symptom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a88bac56a827b6eeacf7eeb38408f43
https://doi.org/10.21203/rs.2.359/v1

Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

Autor: P.A. van Doorn, H. H. W. de Gier, C.M. van Gelder, A.J.J. Reuser, J. M. P. van den Hout, I. Moor-van Nugteren, I.F.M. de Coo, C. I. van Capelle, Berendine J. Ebbink, A.T. van der Ploeg, M. M. Hakkesteegt

Publikováno v: Journal of Inherited Metabolic Disease, 35(3), 505-511. Springer Netherlands
Journal of Inherited Metabolic Disease; Vol 35
Journal of Inherited Metabolic Disease

Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has signifi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a9eca7b863e59cb965d63ecbadaf839
https://doi.org/10.1007/s10545-011-9404-7

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