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contracture/fatiga muscular
L'enllaç es desa al porta-retalls
Pàgina 1 des de 16 resultats
Evaluation of the Scleroderma Patient-centered Intervention Network COVID-19 Home-isolation Activities Together Program
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Background: Social distancing and movement restrictions during contagious disease outbreaks are necessary to reduce spread but can lead to negative social and psychological outcomes, including loneliness, depression, and anxiety, particularly in vulnerable populations. An online survey that used
McArdle Disease Treatment by Ketogenic Diet
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McArdle disease (myophosphorylase deficiency, glycogen storage disease type 5, GSD5, OMIM # 232600) is an inherited metabolic disorder of skeletal muscle. Affected patients suffer from genetically determined lack of the enzyme muscle glycogen phosphorylase, which is essential for glycogen
Progressive Muscle Relaxation Technique on Lower Limb Amputation
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Normal functioning of cardiovascular system are controlled by autonomic nervous system. Stress causes autonomic imbalance which increases sympathetic activity. Loss of limb is potentially stressful change in one's life resulting in vast physical, occupational and psycho-social changes. Amputation is
RCDP Natural History Study
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Rhizomelic chondrodysplasia punctata (RCDP) is a group of rare diseases that have no known cure. It is a genetic disorder characterized by mutations in the Peroxisomal Biogenesis Factor 7 (PEX7) gene (RCDP1), Glyceronephosphate O-acyltransferase (GNPAT) gene (RCDP 2), Alkylglycerone phosphate
Biofeedback Training, Efficacy Evaluation of Fibromyalgia Treatment, a Pilot Study
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Background and rationale of study
Fibromyalgia (FM) is a chronic disease, it is characterised by persistent and diffused musculoskeletal pain with not well defined etiology. Fibromyalgia often occurs in comorbidity with other functional, organic and psychiatric pathologies. The main clinical
The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses
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BACKGROUND:
Neuromuscular diseases affect more than 5% of the population in Western countries. Some of the more rare neuromuscular disorders are patients with metabolic myopathies, which are hereditary disorders caused by enzymatic defects of intermediary metabolism. The disorders are generally
Sensorimotor Changes in Stroke Following Mindfulness
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Thirty percent of stroke survivors experience spasticity, a velocity dependent increase in stretch reflexes, which negatively affects quality of life and activities of daily living (Thibaut et al. 2013). Spasticity is a secondary neurological symptom induced by neurological hyperreflexia seen in
Triheptanoin in Mc Ardle
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This project will investigate the treatment potential of the drug Triheptanoin in patients with the inborn defect in glycogen metabolism, McArdle Disease. There is currently no treatment available for this group of patients. The condition leads to intolerance to physical exercise with a risk of
GDF-15 as a Biomarker for Mitochondrial Disease
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BACKGROUND
Energy insufficiency:
Mitochondrial and metabolic myopathies are inherited diseases compromising cellular energy metabolism, which especially affects skeletal muscle because of its high energy needs. Chemical energy is stored in the body as adenosine triphosphate (ATP), which is derived
Sodium Valproate for GSDV
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McArdle disease (Glycogen storage disease type V, GSDV) is an inherited metabolic disorder of skeletal muscle. Affected patients are unable to perform strenuous exercise due to a congenital absence of the enzyme muscle glycogen phosphorylase, essential for glycogen metabolism. This enzyme deficiency
Antioxidant Therapy in RYR1-Related Congenital Myopathy
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Although genetic disorders of muscle that present at birth are rare, RYR1-related myopathies comprise the most common non-dystrophic congenital myopathy in the United States, with a prevalence of approximately 1/90,000 people (Amburgey et al, 2011). Causative mutations in the ryanodine receptor gene
The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)
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BACKGROUND
This project will investigate the treatment potential of the drug Triheptanoin in patients with the inborn defect in glycogen metabolism, McArdle Disease. There is currently no treatment available for this group of patients. The condition leads to intolerance to physical exercise with a
Extracorporeal Shock Wave Therapy (ESWT) for the Treatment of Spasticity in Persons With Spinal Cord Injury
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Reciprocating Gait Orthoses for Paraplegia Patients
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Background: Ambulation is a rehabilitation priority for many paraplegic patients, either for the psychological reasons or with the aim to achieve partial or full independence. It also provides the therapeutic benefits which are widely acknowledged to improve urinary drainage, to improve peripheral
Valproate and Levocarnitine in Children With Spinal Muscular Atrophy
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Spinal muscular atrophy is an autosomal recessive disease of varying severity that destroys motor neurons, resulting in atrophy and weakness of the voluntary muscles. Around 95% of the cases demonstrate a homozygous deletion/mutation involving exon 7 in SMN1 (survival motor neuron 1), resulting in
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