COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Rattachement africain : ir. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
BACKGROUND: Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive forms of synaptic congenital myasthenic syndromes with end plate acetylcholinesterase deficiency. Clinical presentation includes ptosis, ophthalmoparesis, and progressive weakness with onset at birth or early infancy. METHODS: We followed 26 patients with COLQ-CMS over a mean period of 9 years (ranging from 3 to 213 months) and reported their clinical features, electrophysiologic findings, genetic characteristics, and therapeutic management. RESULTS: In our population, the onset of symptoms ranged from birth to 15 years. Delayed developmental motor milestones were detected in 13 patients (∼ 52%), and the most common presenting signs were ptosis, ophthalmoparesis, and limb weakness. Sluggish pupils were seen in 8 (∼ 30%) patients. All patients who underwent electrophysiologic study showed a significant decremental response (> 10%) following low-frequency repetitive nerve stimulation. Moreover, double compound muscle action potential was evident in 18 patients (∼ 75%). We detected 14 variants (eight novel variants), including six missense, three frameshift, three nonsense, one synonymous and one copy number variation (CNV), in the COLQ gene. There was no benefit from esterase inhibitor treatment, while treatment with ephedrine and salbutamol was objectively efficient in all cases. CONCLUSION: Despite the rarity of the disease, our findings provide valuable information for understanding the clinical and electrophysiological features as well as the genetic characterization and response to the treatment of COLQ-CMS.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
- Date Crossref
- 12/03/2024
- Éditeur
- Springer Science and Business Media LLC
- 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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Imam Hossein Hospital pays non établi dans la noticeÉtablissement de santé
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Tehran University of Medical Sciences Neuromuscular Research Center pays non établi dans la noticeUniversité ou école supérieure
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Shariati Hospital pays non établi dans la noticeÉtablissement de santé
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Kerman University of Medical Sciences Neurology Research Center pays non établi dans la noticeUniversité ou école supérieure
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Sina Hospital pays non établi dans la noticeÉtablissement de santé
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Shahid Beheshti University of Medical Sciences Imam Hossein Hospital pays non établi dans la noticeUniversité ou école supérieure
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Kariminejad-Najmabadi Pathology and Genetics Center pays non établi dans la noticeInstitution
Imam Hossein Hospital, Neuromuscular Research Center — Tehran University of Medical Sciences et Shariati Hospital, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.