Muscular Atrophy Spinal Diagnosis
Mostrando 1-12 de 13 artigos, teses e dissertações.
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1. Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile
ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are ess
Arq. Neuro-Psiquiatr.. Publicado em: 29/07/2019
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2. Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)
OBJECTIVE: To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS: Ten patients (from 7 families) with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genoty
Clinics. Publicado em: 2011
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3. Diagnóstico Molecular Diferencial das Principais Doenças Neuromusculares Degenerativas em Crianças da População do Rio de Janeiro / Molecular Differential Diagnosis of Main Neuromuscular Degenerative Disease in Children Population of Rio de Janeiro
Dentre o grande número de doenças de origem genética conhecidas e que afetam os seres humanos, existem algumas que são degenerativas e que acometem tecidos importantes. Neste trabalho foram estudadas as doenças neuromusculares mais freqüentes na população mundial: Distrofia Muscular de Duchenne (DMD) e Becker (DMB) e Atrofia Muscular Espinhal (AME).
Publicado em: 2009
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4. Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.
We report a child with clinical findings consistent with Werdnig-Hoffmann disease (spinal muscular atrophy type I) who was found not to have the homozygous absence of the survival motor neurone (SMN(T)) gene observed in approximately 95% of spinal muscular atrophy patients. A quantitative PCR based dosage assay for SMN(T) copy number showed that this patient
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5. 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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6. Rapid diagnosis of infantile spinal muscular atrophy by direct amplification of amniocyte and CVS DNA.
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7. Comments on important genetic topics from papers in other journals: Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution
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8. Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data str
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9. Balancing as a clinical test in the differential diagnosis of sensory-motor disorders.
During balancing on a seesaw normal individuals have a mean sway oscillation of 4.3 Hz, which is significantly lower (3.3 Hz) in patients with peroneal muscular atrophy. It is assumed that the oscillations in both cases are generated by spinal stretch reflexes and that the lower frequency in patients with peroneal muscular atrophy is due to their slower nerv
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10. A predominantly cervical form of spinal muscular atrophy.
Clinical heterogeneity within the group of spinal muscular atrophies (SMA) in children can pose practical problems of diagnosis, prognosis and genetic counselling. In addition to the classic forms, unusual cases have been described. Five children with an atypical type of SMA are reported, characterised by early involvement of cervical muscles contrasting wit
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11. Unusual molecular findings in autosomal recessive spinal muscular atrophy.
All three types of autosomal recessive spinal muscular atrophy map to chromosome 5q11.2-q13.3 and are associated with deletions or mutations of the SMN (survival motor neurone) gene. The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allows molecular diagnosis. We have analysed patients from 24 Be
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12. The syndrome of myosclerosis1
Three cases are described presenting with progressive contractures in whom the muscles felt firm and `woody' and a clinical diagnosis of myosclerosis was made in each case. A patient and his young sister were shown to be suffering from spinal muscular atrophy with superimposed, excessive proliferative activity of fibroblasts, and in these cases a beneficial