Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3][4][5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6] .

2024年7月30日 · Spinal muscular atrophy (SMA) refers to a group of hereditary diseases which affect motor neurons. Motor neurons are specialized nerve cells in the brain and spinal cord that control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity, including muscles used for speaking, walking, swallowing, and ...

2000年2月24日 · Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood.

Amyotrophy is a group of hereditary neurological diseases characterized by skeletal muscle damage due to the progressive degeneration of the neurons of the anterior horns of the spinal cord and motor nuclei of the brainstem. Manifestations can begin in infancy or childhood.

2024年7月19日 · Monomelic Amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons—the nerve cells in the brain and spinal cord that control voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg.

Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease.

与脊髓性肌萎缩症有关的重要基因是SMN1（生存运动神经元1，端粒），其相关通路/超通路包括SARS-CoV-2调节宿主翻译机制。 在该疾病的背景下提到了阿司匹林和利司立普。 附属组织包括脊髓和骨骼肌，相关表型为神经系统和正常。 当前模块缺少描述信息，请耐心等待我们的数据更新。 ... A tissue-specific atlas of mouse protein phosphorylation and expression. Immunolocalization and translocation of aquaporin-5 water channel in sweat glands.

2014年7月1日 · Upper limb amyotrophy may occur as an indirect consequence of various spinal disorders, including ventral longitudinal intraspinal fluid collection, Hirayama disease and high cervical cord compression. We present patients who suffer from each of these and review the literature on the three conditions with emphasis on the pathogenesis of amyotrophy.

Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement.

Spinal muscular atrophy (SMA) is characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem, which results in progressive muscle weakness and atrophy. This topic will review clinical aspects of spinal muscular atrophy (SMA), with a focus on survival motor neuron 1 (SMN1) gene-related SMA.