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Last update 23 Jan 2025

Myopathy, Central Core

Last update 23 Jan 2025

Basic Info

Synonyms

CCD, CCO, CENTRAL CORE DISEASE

+ [35]

Introduction

An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)

Clinical Trials associated with Myopathy, Central Core

NCT06672770

/ Not yet recruitingNot ApplicableIIT

Investigation of the Effects of Functional Inspiratory Muscle Training on Respiratory Muscle Strength, Functional Exercise Capacity and Cognitive Function in Patients with Multiple Sclerosis

This study aims to investigate the effects of functional inspiratory muscle training, basic inspiratory muscle training and physical activity in addition to respiratory exercises on respiratory muscle strength, respiratory function, cognition, walking, balance, functional exercise capacity, physical activity, quality of life and core muscles in volunteer Multiple Sclerosis (MS) patients. This study is planned as a prospective, randomized and experimental study.

Start Date01 Nov 2024

Sponsor / Collaborator

Selcuk University

NCT06157268

/ RecruitingNot ApplicableIIT

Trial Readiness and Trial Fitness for Congenital Myopathies: a 2-year Prospective Natural History Study Including a Cross-sectional Study on Muscle Fatigability

Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies. Not much is known about the natural history and no curative treatment is available for these groups. Also patients report fatigability as one of their symptoms. The goal of this observational study is to study the natural history during 24 months to achieve trial readiness and to study the muscle fatigability in CCD/MmD, NEM and CNM.

Start Date28 Mar 2024

Sponsor / Collaborator

Radboud University Medical Center

NCT06660472

/ CompletedNot ApplicableIIT

Relationship Between Core Muscles Endurance and Saliba's Postural Classification System in Patients With Chronic Mechanical Low Back Pain

The aim of the study is to investigate the relationship between core muscles endurance and Saliba Postural Classification System in patients with chronic mechanical low back pain.

Start Date01 Nov 2023

Sponsor / Collaborator

Cairo University

100 Clinical Results associated with Myopathy, Central Core

100 Translational Medicine associated with Myopathy, Central Core

0 Patents (Medical) associated with Myopathy, Central Core

778

Literatures (Medical) associated with Myopathy, Central Core

01 Jan 2025·European Journal of Neurology

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps

Article

Author: Gonzalez‐Quereda, Lidia ; Gallano, Pia ; Straub, Volker ; Hernández‐Laín, Aurelio ; Rodríguez‐Santiago, Benjamín ; Zelaya‐Huerta, M. Victoria ; Fernández‐Torrón, Roberto ; Iruzubieta, Pablo ; Calafell, Francesc ; Kapetanovic, Solange ; Segarra‐Casas, Alba ; Maneiro, Miren ; Jericó, Ivonne ; López de Munain, Adolfo ; Vallejo‐Illarramendi, Ainara ; Marco‐Moreno, Pablo ; Töpf, Ana

AbstractBackground and purposePathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.MethodsFamilies harbouring the p.Leu2286 RYR1 variant underwent a detailed clinical evaluation, including muscle magnetic resonance imaging, electromyography and muscle biopsy. Haplotypes were analysed in available patients and their relatives.ResultsIndividuals carrying the p.Leu2286Val shared a common haplotype, suggesting a founder event in the Basque Country population. The most prevalent features were exertional myalgia, high creatine kinase (CK) levels, cramps and muscle hypertrophy. None of the patients carrying only the p.Leu2286Val showed progression to severe muscle weakness and muscle magnetic resonance imaging showed a heterogeneous muscle involvement. Muscle biopsy revealed non‐specific findings in two patients and features associated with central core disease in one patient carrying only the p.Leu2286Val and two patients harbouring an additional RYR1 variant. Three individuals carrying an in trans RYR1 variant presented with an earlier onset and more severe phenotype.ConclusionHere, it is shown that the dominantly inherited p.Leu2286Val RYR1 founder variant is associated with a milder phenotype of exercise intolerance, myalgia and hyperCKemia.

01 Dec 2024·European Journal of Vascular and Endovascular Surgery

Editor's Choice – Safety of Shunting Strategies During Carotid Endarterectomy: A Vascular Quality Initiative Data Analysis

Article

Author: Hommery-Boucher, Xavier ; Fortin, William ; Beaudoin, Nathalie ; Stevens, Louis-Mathieu ; Elkouri, Stéphane ; Blair, Jean-François

OBJECTIVEThis study aimed to evaluate in hospital outcomes after carotid endarterectomy (CEA) according to shunt usage, particularly in patients with contralateral carotid occlusion (CCO) or recent stroke. Data from CEAs registered in the Vascular Quality Initiative database between 2012 and 2020 were analysed, excluding surgeons with < 10 CEAs registered in the database, concomitant procedures, re-interventions, and incomplete data.METHODSBased on their rate of shunt use, participating surgeons were divided in three groups: non-shunters (< 5%), selective shunters (5 - 95%), and routine shunters (> 95%). Primary outcomes of in hospital stroke, death, and stroke and death rate (SDR) were analysed in symptomatic and asymptomatic patients.RESULTSA total of 113 202 patients met the study criteria, of whom 31 147 were symptomatic and 82 055 were asymptomatic. Of the 1 645 surgeons included, 12.1% were non-shunters, 63.6% were selective shunters, and 24.3% were routine shunters, with 10 557, 71 160, and 31 579 procedures in each group, respectively. In the univariable analysis, in hospital stroke (2.0% vs. 1.9% vs. 1.6%; p = .17), death (0.5% vs. 0.4% vs. 0.4%; p = .71), and SDR (2.2% vs. 2.1% vs. 1.8%; p = .23) were not statistically significantly different among the three groups in the symptomatic cohort. The asymptomatic cohort also did not show a statistically significant difference for in hospital stroke (0.9% vs. 1.0% vs. 0.9%; p = .55), death (0.2% vs. 0.2% vs. 0.2%; p = .64), and SDR (1.0% vs. 1.1% vs. 1.0%; p = .43). The multivariable model did not show a statistically significant difference for the primary outcomes between the three shunting cohorts. On subgroup analysis, the SDRs were not statistically significantly different for patients with CCO (3.3% vs. 2.5% vs. 2.4%; p = .64) and those presenting with a recent stroke (2.9% vs. 3.4% vs. 3.1%; p = .60).CONCLUSIONNo statistically significant differences were found between three shunting strategies for in hospital SDR, including in patients with CCO or recent stroke.

01 Nov 2024·Annals of Vascular Surgery

The Circle of Willis Status Influences Neurological Complications of Carotid Endarterectomy with Contralateral Carotid Occlusion

Article

Author: Sotonyi, Peter ; Banga, Peter Vince ; Kovats, Tamas ; Lengyel, Balazs ; Varga, Andrea ; Bayerle, Patrik ; Vecsey-Nagy, Milan ; Peter, Csongor

BACKGROUNDTo evaluate the impact of anatomical variations in the Circle of Willis (CoW) on immediate neurological events (INEs) after carotid endarterectomy (CEA) without shunting in patients with contralateral carotid occlusion (CCO).METHODSSingle-center retrospective study. Patient's demographic and clinical outcomes data were prospectively collected. CoW segments were reviewed retrospectively. Between January 2013 and May 2018, 2090 patients underwent CEA under general anesthesia, CCO was found in 113 (5.4%) patients. CoW segments were classified as normal, hypoplastic (diameter ˂0.8 mm), or absent based on computed tomography angiography. We studied the CoW segments as 2 collateral networks connecting the basilar artery and the ipsilateral middle cerebral artery: a short semicircle (first segment of the ipsilateral posterior cerebral artery [P1] and posterior communicating artery [Pcom] segment) and a long semicircle (contralateral P1, Pcom, and both first segments of the anterior cerebri artery (A1) anterior communicating artery (Acom)). INE was defined as any transient ischemic attack or stroke diagnosed immediately after the procedure.RESULTSOut of the 113 patients, 46 underwent endarterectomy with shunting. We further excluded 16 patients from the assessment of the CoW due to unavailability or inadequate quality of computed tomography angiography. Of the 113 patients, 2 had strokes, 1 with shunting that occurred hrs after surgery. Besides the other stroke case, 4 INE were observed, all without the use of a shunt. Of the 51 patients with CoW assessment, 10 (19.6%) had a complete CoW, while 21 (41.2%) patients had only 1 semicircle intact (10 short and 11 long intact semicircles), and none of these patients experienced an INE. A total of 20 (39%) patients had both the long and short semicircles incomplete, of which 4 (7.8%) cases had an INE. In all INE cases, at least 1 of the Pcom was absent or hypoplastic. The absence of both Pcom was a strong predictor of incident INE [odds ratio = 11.10 (confidence interval: 1.04-118.60)] for INE.CONCLUSIONSPatients with CCO and insufficient CoW collateral flow support are at an increased risk of INE, including stroke, in the absence of shunt protection during CEA cross-clamping. Shunting should always be considered when the collateral flow between the ipsilateral middle cerebral artery and the basilar artery is compromised in CCO patients.

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