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167 results for “myotonic dystrophy”
Kinematics and timed function tests of facioscapulohumeral muscular dystrophy and myotonic dystrophy
<p>This dataset contains <a href="https://www.opencap.ai/">OpenCap</a> kinematics (body position and joint angles), clinician-scored timed function tests (TFTs), and extracted biomechanical metrics for 129 individuals:</p> <ul> <li> <p>28 participants with facioscapulohumeral muscular dystrophy (FSHD)</p> </li> <li> <p>58 participants with myotonic dystrophy (DM)</p> </li> <li> <p>43 participants with typical movement</p> </li> </ul> <p>For more details, please see the accompanying paper (in submission):</p> <blockquote> <p><strong>Video-based biomechanical analysis captures disease-specific movement signatures of different neuromuscular diseases</strong></p> <p>Parker S. Ruth*, Scott D. Uhlrich*, Constance de Monts, Antoine Falisse, Julie Muccini, Sydney Covitz, Shelby Vogt-Domke, John Day, Tina Duong,† Scott Delp†</p> <p>*Contributed equally, †Contributed equally</p> </blockquote>
Myotonic dystrophy research: imaging result files ( DTI, VBM) from a 5-year longitudinal follow-up study
<p>This ZIP-file contains supplementary data belonging to the manuscript</p> <p><strong>"Tracking the brain in myotonic dystrophy: a 5-year longitudinal follow-up study", published in PLOS ONE.</strong></p> <p>In this manuscript we aimed to examine the natural history of brain involvement in adult-onset myotonic dystrophies type 1 and 2 (DM1, DM2). We conducted a longitudinal observational study to examine functional and structural cerebral changes in myotonic dystrophies. We enrolled 16 adult-onset DM1 patients, 16 DM2 patients, and 17 controls. At baseline (T1) and at follow-up (T2) participants underwent neurological, neuropsychological, and 3T-brain MRI examinations using identical study protocols that included voxel-based morphometry and diffusion tensor imaging.</p> <p>The ZIP-file contains imaging result files from the different statistical analyses. </p>
Hemangiomas of the tongue and the oral cavity in a myotonic dystrophy type 1 patient
<p>Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a cytosine, guanine, thymine (CTG) trinucleotide repeat expansion in the non-coding region of dystrophia myotonica protein kinase gene, causing a multisystem involvement. To date, few studies have been performed to evaluate skin features in DM1 patients, but none reported on the possible association between the disease and tongue hemangiomas. We report a case of a 63-year-old woman affected by DM1 and presenting, at the intraoral examination, several swelling and buish lesions occurring on buccal and palatal mucosa, and in the anterior two-thirds and margins of the tongue. Multiple tongue hemangiomas in DM1 patient. Color Doppler ultrasound revealed hypoechoic lesions with intermittent color picking suggestive of vascular lesion. Surgical excision was performed under general anesthesia. Histopathological examination was compatible with the diagnosis of cavernous hemangiomas. At 6 months follow-up, a part from the cosmetic deformity, patient's hemangiomas did not bleed, but caused functional problems with speaking, mastication, and deglutition, in addition to the same symptoms induced by DM1. This case may add new details to better characterize the DM1 phenotype, suggesting that even tongue hemangiomas may be part of the DM1 multisystem involvement.</p>
Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy
ClinicalTrials.gov study NCT02858908. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Safety and Efficacy of Pitolisant on Excessive Daytime Sleepiness and Other Non-Muscular Symptoms in Patients With Myotonic Dystrophy Type 1
ClinicalTrials.gov study NCT04886518. IPD Sharing: NO. Countries: 2. Publications: 1.
Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1)
ClinicalTrials.gov study NCT00233519. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1
ClinicalTrials.gov study NCT01406873. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy
<p>Abstract</p> <p>Myotonic dystrophy is a multisystemic disorder affecting skeletal muscle. Male patients have an increased risk of fractures and develop a number of endocrine/metabolic impairments known to adversely affect bone health. The aim of this study was primarily to determine the occurrence of fragility fractures and the bone mineralization status (lumbar spine, hip and total body by dual X-ray absorptiometry) in 36 male patients affected with type 1 myotonic dystrophy and 13 male patients affected with type 2 myotonic dystrophy. Fragility fractures occurred in 15 type 1 and 7 type 2 myotonic dystrophy in non-classical osteoporotic sites, such as metatarses. Hip osteopenia was the most frequent finding, particularly in type 2 (n = 6) than type 1 myotonic dystrophy patients (n = 1), while osteoporosis was rare. Patients with type 1 myotonic dystrophy presented higher total body bone mass density than patients with type 2 myotonic dystrophy and healthy controls and lumbar spine was associated positively with the severity of the disease. Gonadic failure, with low testosterone and reduced INSL3 levels, visceral adiposity and insulin resistance correlated with reduced body mass index in both type 1 and type 2 myotonic dystrophic patients. The independent determinant of fragility fractures were low total body mass index, low blood testosterone and low global muscle mass.</p>
Evaluation of the Efficacy and Safety of Metformin in the Myotonic Dystrophy Type 1 (Steinert's Disease)
ClinicalTrials.gov study NCT05532813. IPD Sharing: Not stated. Countries: 1. Publications: 2.
RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy
ClinicalTrials.gov study NCT00127582. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Observational Prolonged Trial in Myotonic Dystrophy Type 1
ClinicalTrials.gov study NCT02118779. IPD Sharing: Not stated. Countries: 4. Publications: 4.
Effects of a Multiple Component Training Program on Muscles in Adults With Myotonic Dystrophy Type 1
ClinicalTrials.gov study NCT04001920. IPD Sharing: NO. Countries: 1. Publications: 1.
Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
ClinicalTrials.gov study NCT03981575. IPD Sharing: NO. Countries: 7. Publications: 2.
The United Kingdom National Registry for Myotonic Dystrophy
ClinicalTrials.gov study NCT04003363. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
ClinicalTrials.gov study NCT02880735. IPD Sharing: YES. Countries: 1. Publications: 7.
Efficacy and Safety of DHEA for Myotonic Dystrophy
ClinicalTrials.gov study NCT00167609. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
ClinicalTrials.gov study NCT06747884. IPD Sharing: NO. Countries: 1. Publications: 26.
Study of AOC 1001 in Adult Myotonic Dystrophy Type 1 (DM1) Patients
ClinicalTrials.gov study NCT05027269. IPD Sharing: NO. Countries: 1. Publications: 0.
Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
ClinicalTrials.gov study NCT03059264. IPD Sharing: NO. Countries: 3. Publications: 0.
Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1
ClinicalTrials.gov study NCT02251457. IPD Sharing: UNDECIDED. Countries: 1. Publications: 3.
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DANDI Archive for NWB datasets
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International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.