Sun May Arise on SMA : Newborn Screening of Spinal Muscular Atrophy in Belgium
Spinal Muscular AtrophyMedico-economic study of Newborn screening of Spinal Muscular Atrophy
Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
Spinal Muscular Atrophy Type 3Mitochondrial MyopathyThis proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial function in ambulatory spinal muscular atrophy (SMA) patients and disease controls. It is a 6-month observational study including 14 ambulatory SMA patients, 14 ambulatory patients with mitochondrial myopathy, and 14 healthy controls.
Nutritional Status, Muscle Wasting and Fraility in Intensive Care Patients
Critical IllnessNutritional DisorderThe risk of muscle wasting is high in the intensive care unit patients during the treatment process and this condition is associated with adverse clinical outcomes. The etiology of muscle wasting is multifactorial and medical nutrition therapy plays a key role in muscle wasting treatment and prevention. The aim of this study is assesing the malnutrition and fraility, anthropometric measurements, and muscle mass by ultrasound at the first admission to the intensive care unit and to determine the nutritional factors affecting clinical outcomes. In addition, it is planned to determine the risk factors affecting the change of anthropometric measurements and muscle wasting in the first week during the intensive care unit.
Investigation of Thenar Muscles Morphometric Parameters in Patients With TMC OA
Thumb OsteoarthritisMuscle Atrophy or WeaknessIn this study, investigators aimed to investigate the morphometric parameters tenar muscles and joint configuration in patients with trapeziometacarpal osteoarthritis (TMC OA) osteoarthritis stages, thenar muscle parameters, radial subluxation rate, functional level and hand dexterity.
Does Muscle Wasting Always Mean Muscle Weakness? A Prevalence Study in COPD
COPDPeripheral muscle mass and strength are relevant indicators of COPD survival. Current guidelines recommend to assess muscle strength only in muscle wasted patients. However, a recent study reported quadriceps weakness without muscle wasting (Menon, M et al. Resp. Res.2012, 13:119). Thus, these guidelines raise the risk to miss out some weak patients. In clinical settings, fat-free-mass index (FFMI) is indicated as a simple index to assess muscle wasting. We aimed at determining the prevalence of patients entering in pulmonary rehabilitation (PR) a priori not eligible for muscle strength evaluation given the lack of muscle wasting clinical signs.
International SMA Patient Registry
Muscular AtrophySpinalThis is a registry of individuals affected by Spinal Muscular Atrophy (SMA) and/or family members of individuals affected by SMA. The purpose of the registry is to allow researchers studying the biological basis of SMA and potential therapies in SMA access to individuals interested in participating in research and/or experimental therapies. The International SMA Patient Registry is supported by CureSMA.
Evaluation of the Muscle Strength and Motor Ability in Children With Spinal Muscle Atrophy(SMA)...
Spinal Muscular AtrophyThe purpose of this study is to determine if the treatment with valproic acid can increase the muscle strength and motor ability of children with spinal muscular atrophy.
Natural History of Spinal Muscular Atrophy Type 1 in Taiwan
Natural History of Type 1 Spinal Muscular Atrophy (SMA)Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations of the survival motor neuron 1 (SMN1) gene. The investigators will conduct a systematic review of the contents and activities collected via a comprehensive case report form. Patients who fulfilled diagnostic criteria for SMA type 1 will be reviewed retrospectively.
Strength and Strength-ratio of Hip Rotator Muscles at Soccer Players
Hip InjuriesMuscular Atrophy1 moreAt this investigation we want to find out whether there is a difference in muscle strength of the internal and external rotation hip muscles between soccer players and non-soccer players caused by typical movement patterns seen in soccer sport.
Evaluating Muscle Function After Ankle Surgery
Muscle AtrophyMuscle Weakness1 morePatients who are forced to rest or reduce activity as a result of illness, injury, or surgery often experience resulting muscle weakness. This study will evaluate muscle features and muscle strength in patients who are recovering from surgery for broken ankles. The goal of this study is to improve the recovery of muscle function and overall ability after prolonged periods of ankle inactivity due to surgery.