Spinal Muscle Atrophy
Mostrando 1-12 de 32 artigos, teses e dissertações.
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1. 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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2. Análise observacional de aquisições motoras em crianças portadoras de Amiotrofia Espinal Tipo I submetidas à intervenção medicamentosa com ácido valpróico / Observatory analyse of motor gain in type I spinal amyotrophy children with valproic acid use
The spinal muscle atrophy (SMA) is the most frequent neuromuscular disease responsible for Hypotonic Children Syndrome (HCS). SMA is caused by anterior horn cells degeneration in the narrow. The neurological impairment is quickly and strongly established in the first months of life, so, after few months, the only movement that the children can do is moving t
Publicado em: 2008
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3. Two Babinski signs in seropositive (HAM) and seronegative tropical spastic paraparesis
Tropical spastic paraparesis (TSP) may or may not be associated to HTLV-I antibodies and is usually characterized by clinical and pathological spinal cord abnormalities at thoracic levels. We present here five Brazilian patients who had typical chronic idiopatic spastic paraparesis; two of them were HTLV-I seropositive (HAM) and three HTLV-I seronegative (TS
Arquivos de Neuro-Psiquiatria. Publicado em: 2008
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4. Muscle nuclear size in neuromuscular disease.
Nuclear size has been estimated in muscle biopsy specimens from seven healthy individuals, eight patients with infantile spinal muscular atrophy (types I and II), and eight patients with Duchenne muscular dystrophy. The results indicate a great increase in nuclear size in Duchenne muscular dystrophy but not in spinal muscular atrophy when compared with contr
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5. Electromyographic Studies in Parents of Children with Spinal Muscular Atrophy
Electromyographic studies have been carried out on the quadriceps and deltoid muscles of a number of healthy parents of children with infantile spinal muscular atrophy (types I and II) and the results compared with those obtained in healthy controls of the same sex. The results indicated an increase in mean amplitude of action potentials in quadriceps and de
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6. Hereditary distal spinal muscular atrophy with vocal cord paralysis.
A large kindred is described in which an unusual form of spinal muscular atrophy is segregating in an autosomal dominant manner. The disease presents most commonly in the teens with small muscle wasting in the hands, particularly involving median nerve musculature. Subsequently distal muscle wasting and weakness occur in the lower limbs. Vocal cord paralysis
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7. Distal chronic spinal muscular atrophy involving the hands.
Six patients are described with a history of slowly progressive wasting of the muscle of the hands and forearms extending over periods of up to 20 years. The clinical, radiological, and electrophysiological findings were consistent with a diagnosis of chronic anterior horn cell degeneration. It is suggested that the patients are affected by a form of distal
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8. Mitochondrial functions in chronic spinal muscular atrophy.
We determined the respiration rate, respiratory control and ADP/O ratios, with different substrates in mitochondria isolated from seven patients with chronic spinal muscular atrophy and compared them with normal human muscle. In all cases studied, a severe alteration of the respiratory control with variable derangement of oxidative phosphorylation was found.
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9. Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.
Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This con
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10. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice
There is currently no treatment for the inherited motor neuron disease, spinal muscular atrophy (SMA). Severe SMA causes lower motor neuron loss, impaired myofiber development, profound muscle weakness and early mortality. Myostatin is a transforming growth factor-β family member that inhibits muscle growth. Loss or blockade of myostatin signaling increases
Oxford University Press.
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11. Painful muscle spasms complicating algodystrophy: central or peripheral disease?
A 21 year old female patient developed Südeck's atrophy of the right foot secondary to a chronic Achilles tendinitis. The condition was complicated by the occurrence of painful muscle spasms in the right leg and incontinence of urine. The spasms had characteristics of both a tonic ambulatory foot response and a spinal flexor reflex. The movements disappeare
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12. Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine.
Duchenne muscular dystrophy is a fatal disorder characterized by progressive muscular weakness, wasting, and severe muscle contractures in later disease stages. Muscle biopsy reveals conspicuous myofiber degeneration and fibrosis substituting muscle tissue. We quantitatively determined mRNA of the potent fibrogenic cytokine transforming growth factor-beta 1