Neuromuscular Features in XL-MTM Carriers
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Le résumé fourni par la source
BACKGROUND AND OBJECTIVE: X-linked myotubular myopathy (XL-MTM) is an early-onset congenital myopathy characterized by mild to severe muscle weakness in male individuals. The objective was to characterize the clinical spectrum of neuromuscular features in X-linked myotubular myopathy (XL-MTM) carriers. METHODS: We performed a nationwide cross-sectional study focusing on neuromuscular features in an unselected cohort of Dutch XL-MTM carriers. Participants were recruited from neuromuscular centers in the Netherlands and through the Dutch and European patient associations. Genetic results were collected. Carriers were classified based on ambulatory status and muscle weakness. We used a questionnaire focusing on medical and family history and neuromuscular symptoms. In addition, we performed a neurologic examination including manual muscle testing (MMT), timed up and go (TUG) test, and 6-minute walking test (6MWT). RESULTS: We included 21 carriers (20 genetically confirmed and 1 obligate), of whom 11 (52%) carriers were classified as manifesting, with severe (nonambulatory; n = 2), moderate (minimal independent ambulation/assisted ambulation; n = 2), mild (independent ambulation but with limb or axial muscle weakness; n = 3), and minimal (only facial muscle weakness, n = 4) phenotypes. Three of the manifesting carriers (2 severe and 1 moderate) were from families without genetically confirmed male XL-MTM patients. Furthermore, 7 manifesting carriers (1 moderate; 2 mild; and 4 minimal) were not classified as manifesting carriers before participation in our study. Three carriers reported a history of pneumothorax. The obstetric history revealed frequent polyhydramnios (50%) and reduced fetal movements (36%) in pregnancies of affected sons. Muscle weakness was most pronounced in proximal and limb girdle muscles. Other frequently reported signs included (asymmetric) facial weakness (73%), reduced or absent deep tendon reflexes (45%), scoliosis (40%), and ptosis (45%). Ten participants (48%) were classified as nonmanifesting. Manifesting carriers had lower functional testing scores on 6MWT and TUG compared with nonmanifesting carriers. DISCUSSION: This study showed that 52% of an unselected group of XL-MTM carriers has muscle weakness (3 of whom were previously unclassified as manifesting). This corresponds to findings of our recent questionnaire study on self-reported symptoms in XL-MTM carriers. These observations should raise awareness of the neuromuscular manifestations of the XL-MTM carrier state and provide important epidemiologic information required for future clinical trials.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Neuromuscular Features in XL-MTM Carriers
- Date Crossref
- 15/11/2022
- Éditeur
- Ovid Technologies (Wolters Kluwer Health)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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St Thomas' Hospital pays non établi dans la noticeÉtablissement de santé
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Radboud University Nijmegen pays non établi dans la noticeUniversité ou école supérieure
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King's College London pays non établi dans la noticeUniversité ou école supérieure
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Guy's and St Thomas' NHS Foundation Trust pays non établi dans la noticeÉtablissement de santé
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Radboud University Medical Center Donders Institute for Brain pays non établi dans la noticeOrganisme public
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University of Duisburg-Essen pays non établi dans la noticeUniversité ou école supérieure
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Guy's & St. Thomas' Hospital NHS Foundation Trust Department of Neurology (J.S.) pays non établi dans la noticeÉtablissement de santé
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Evelina Children's Hospital Department of Paediatric Neurology (H.J.) pays non établi dans la noticeÉtablissement de santé
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University Duisburg-Essen Department of Pediatric Neurology (F.B. pays non établi dans la noticeUniversité ou école supérieure
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Faculty of Life Sciences and Medicine Randall Centre for Cell and Molecular Biophysics pays non établi dans la noticeUniversité ou école supérieure
St Thomas' Hospital, Radboud University Nijmegen et King's College London, avec 7 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.