Muscle Hypotonia
Mostrando 1-12 de 24 artigos, teses e dissertações.
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1. Efeito de um programa de exercícios cinesioterapêuticos sobre a contratilidade do assoalho pélvico de mulheres com disfunção de orgasmo : avaliação eletromiográfica / Effect of kinesiotherapy on the contractility of pelvic floor of women with orgasmic dysfunction : electromyographic evaluation
Objetivo. Avaliar o efeito de um programa supervisionado de cinesioterapia sobre a contratilidade do assoalho pélvico, e sua eventual correlação com a função orgásmica feminina. Sujeito e Métodos. Para este estudo clínico, prospectivo, randomizado, controlado e cego, foram inclusas 20 mulheres, com média de idade de 26,6 ± 6,1 anos, com queixa de f
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 20/12/2011
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2. Evaluation of the muscle strength and motor ability in children with spinal muscle atrophy type II and III treated with valproic acid / Avaliação da força muscular e da habilidade motora das crianças com amiotrofia espinhal progressiva do tipo II e III medicadas com ácido valpróico
Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder that affects the spinal motoneurons, resulting in hypotonia and muscle weakness. The knowledge of the molecular mechanism of SMA has originated new researches including clinical trials with pharmacological agents that increase SMN2 protein level. Many drugs with this action are being tested wit
Publicado em: 2009
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3. Acute fulminant myoglobinuric polymyositis with picornavirus-like crystals.
Myoglobinuria was found in an 11 month old girl suffering from fever, dyspnoea, and muscle hypotonia. Muscle biopsy showed focal degenerative necrosis of the muscle fibres. Electronmicroscopically, picornavirus-like crystals were demonstrated in the muscle fibres. These and other findings strongly suggest that she suffered from acute myositis with myoglobinu
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4. Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes.
The muscle biopsy results from 14 children with macrocephaly and hypotonia/weakness were correlated with clinical findings compatible with any of the autosomal dominant macrocephaly syndromes. Thirteen of the 14 had evidence of lipid storage myopathy, either generalised or focal. All 13 had examinations consistent with either benign familial macrocephaly, Ru
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5. A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.
Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. A
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6. The Marden-Walker syndrome.
The characteristic facies, joint contractures, muscular hypotonia, and growth and developmental delay of the Marden-Walker syndrome were present in a 19-month-old boy. Extensive evaluation of the neuromuscular system failed to identify a specific abnormality. Electromyography was normal with low amplitude. Light and electron microscopy of a skeletal muscle b
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7. A nemaline myopathy mutation in α-tropomyosin causes defective regulation of striated muscle force production
Nemaline myopathy (NM) is a rare autosomal dominant skeletal muscle myopathy characterized by severe muscle weakness and the subsequent appearance of nemaline rods within the muscle fibers. Recently, a missense mutation inTPM3, which encodes the slow skeletal α-tropomyosin (αTm), was linked to NM in a large kindred with an autosomal-dominant, childhood-ons
American Society for Clinical Investigation.
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8. Congenital, hypotonic-sclerotic muscular dystrophy.
Four cases of congenital, hypotonic-sclerotic muscular dystrophy are presented. The patients showed clinically prominent features described by Ullrich, i.e. congenital muscle weakness, hypotonia, and hyperextensibility of distal joints, contractures of proximal joints, high-arched palate, hyperhidrosis, posterior protrusion of calcaneus, and no progression.
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9. A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.
Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal intelligence, show striking epiphyseal
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10. Delayed neuropathy after organophosphorus insecticide (Dipterex) poisoning: a clinical, electrophysiological and nerve biopsy study.
Clinical, electrophysiological and histological findings in four patients accidentally poisoned with the organophosphorus insecticide Dipterex are reported. Three to five weeks after insecticide ingestion signs of a distal sensorimotor (preponderantly motor) neuropathy occurred. The patients complained of paraesthesia in the lower limbs, and two of them of v
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11. A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle.
A 16 year old girl showed delayed psychomotor development. In infancy, exercise intolerance, cerebellar signs, deteriorated with increasing intercurrent infections, and disturbances of breathing and cardiac rhythm became manifest. From the age of 7 years there was chronic progressive psychomotor deterioration, with hypotonia, a bilateral pyramidal and cerebe
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12. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy.
A mitochondrial defect was investigated in an infant with fatal congenital lactic acidosis (3-14 mM), high lactate-to-pyruvate ratio, hypotonia, and cardiomyopathy. His sister had died with a similar disorder. Resting oxygen consumption was 150% of controls. Pathological findings included increased numbers of skeletal muscle mitochondria (many with prolifera