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muscular atrophy/atrofi
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Side 1 fra 168 resultater
A Study of Nusinersen Among Participants With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec-xioi
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Characterization of the Clinical-epidemiological Profile of Patients With SMA5q Types II and III: Observational Study
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This is a retrospective cross-sectional observational study to characterize the clinical and epidemiological profile of patients with spinal muscular atrophy (SMA) 5q types II and III, in follow-up at the Brazilian Unified Public Health System (SUS). This study aims to provide baseline data, which
Impact of Nutritional Status on Clinical Outcome in PICU
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Several studies have investigated the predictive role of an extremely low body weight on disease prognosis and outcomes among general and critically ill children .They enrolled all patients consecutively admitted to pediatric intensive care unit PICU) , therefore , being underweight may have
UK Spinal Muscular Atrophy Patient Registry
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The UK SMA Patient Registry (https://www.treat-nmd.org.uk/registry/) is a joint venture between the John Walton Muscular Dystrophy Research Centre at Newcastle University and the patient group SMA UK (formerly known as the Jennifer Trust, then SMA Support UK). SMA UK is a UK national charity
An Expanded Access Program for Risdiplam in Participants With Spinal Muscular Atrophy (SMA)
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Evaluation of Therapeutic Response in Spinal Muscular Atrophy Using Multispectral Optoacoustic Tomography (MSOT) and Magnetic Resonance Imaging (MRI)
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SMA is an autosomal-recessive disorder, characterized by progressive muscle weakness and atrophy with an incidence of 1/10,000. The condition is caused by a homozygous deletion or mutation in the survival motor neuron 1 (SMN1), resulting in reduced expression of the survival motor neuron (SMN)
The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs
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Spinal muscular atrophy (SMA) is a group of neuromuscular diseases involving the spinal cord anterior horn cells and brain stem motor nuclei. It is followed by programmed cell death. It progresses with symmetrical weakness and atrophy of voluntary muscles throughout the body. It leads to a decrease
Effect of Blood Flow Restriction Training on Patient With Anterior Cruciate Ligament Reconstruction
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Anterior cruciate ligament (ACL) rupture is one of the most common sports injuries. Surgical procedure is usually performed after injury. After ACL surgery, patients experience problems such as pain, impaired knee function, and especially quadriceps muscle weakness and atrophy. Quadriceps atrophy
Characterization of the Postural Habits of Wheelchair Users Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor
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The main objective of this study is to evaluate the impact of an algorithm that characterizes the cruro-ischiatic fingerprints used in daily life and that issues an alert in case of detection of a pressure sore risk defined by the literature on the occupational performance of the subjects.
The
Wearable Technology to Assess Gait Function in SMA and DMD
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Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are genetic disorders that often result in progressive weakness and impaired function. Results from this study will help characterize how gait is affected in SMA and DMD. This novel device can serve as a more affordable and
Motor Unit Number Estimation (MUNE) in Adults With Spinal Muscular Atrophy (SMA)
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This is a prospective pilot study to determine MUNE and CMAP values in a population of adults with SMA, assess how these electrophysiologic parameters change over time, and explore how well these parameters correlates with other outcome measures in SMA, including functional scales (SMAFRS and SF-36)
New Imaging Biomarkers for Muscular Diseases - Multispectral Optoacoustic Imaging in Spinal Muscular Atrophy
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SMA is an autosomal-recessive disorder, characterized by progressive muscle weakness and atrophy with an incidence of 1/10,000. The condition is caused by a homozygous deletion or mutation in the survival motor neuron 1 (SMN1), resulting in reduced expression of the survival motor neuron (SMN)
French Register of Patients With Spinal Muscular Atrophy
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As secondary objectives, the study aims:
- to estimate the frequencies of patients with SMA 5q types 1 through 4 who have being treated in the reference centers between September 1 2016 and August 31 2024;
- to describe overall demographic, familial, clinical, biological, and genetic characteristics
Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
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This is a prospective, multi center, multinational, non-interventional observational study. All patients will be managed according to the clinical site's normal clinical practice, i.e., the diagnostic and clinical treatment/practice process that a clinician chooses according to their clinical
Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy
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