نتایج جستجو برای: spinal muscular atrophy
تعداد نتایج: 176516 فیلتر نتایج به سال:
Recent electrophysiological studies of human and mouse muscular dystrophy have prompted the hypothesis that both are of neurogenic rather than myogenic origin. A decreased number of spinal motor neurones might be expected if this hypothesis were correct. The total number of neurones in the anterior grey horns of seven normal mice, six Bar Harbor 129 strain dystrophic mice, and six mice sufferin...
Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, inability to sit without support, and deficient levels survival motor neuron (SMN) protein. Risdiplam orally administered small molecule that modifies SMN2 pre–messenger RNA splicing increases functional SMN protein in blood.
Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the extremity muscles with CAG triplet repeat expansion in androgen receptor gene. Hirayama (HD) juvenile onset asymmetric amyotrophy hand most common males Asia. We report a patient atypical Kennedy presenting typical HD.
neurodegenerative disorders such as huntingtons disease, alzheimers disease, parkinsons disease, amyotrophic lateral sclerosis, spinal muscular atrophy, friedreichs ataxia, and others are multi-factorial illnesses in which many pathways (still poorly understood) act serially and in parallel to give a determined pathologic phenotype. thus, presently there are no effective cures for these disease...
OBJECTIVE This study examines the potential role for palliative care services in the care of individuals with muscular dystrophy and spinal muscular atrophy, and the support of their families. METHODOLOGY Semistructured interviews were conducted in South Australia with nine bereaved and four current family members of individuals with muscular dystrophy or spinal muscular atrophy. Issues explo...
The discovery of the genetic basis of hereditary lower motor neuron disease (LMND) and the recognition of multifocal motor neuropathy as a distinct clinical entity necessitate a new classification of LMND. To this end, we studied the clinical and electrophysiological features of 49 patients with sporadic adult-onset LMND in a cross-sectional study. Disease duration was more than 4 years to excl...
The population of the northeast of Brazil is characterized by high rates of endogamy and disabilities. An epidemiological cross-sectional study using the informant method was conducted in eight communities in the hinterlands of Paraiba to describe genetic and acquired diseases that cause disabilities and to estimate the costs of specialized services such as physiotherapy and the acquisition of ...
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