Spinal muscular atrophy type 2 (SMA2), or Werdnig-Hoffmann disease type 2, is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brainstem ...
Spinal muscular atrophy (SMA) is a hereditary disorder characterized by progressive muscle weakening and atrophy that destroys motor neurons.
脊髓性肌肉萎缩症(Spinal muscle atrophy):是由SMN1基因突变导致的一类疾病,其中SMN2是SMN1的同源基因,与SMN1有共同的编码区。SMN1的7号外显子变化则会导致外显子跳跃,产生没有7号外显子的缩短型SMN2蛋白,这种缩短型蛋白易降解,没有实质功能。通过寡核苷酸(ASO)nusinersen与靶标结合,阻止其7号外显子被剪切,产生...
Mouse (NSD) Muscle atrophy, muscle fiber loss [57] Drosophila Reduced muscle growth, defective locomotion [92] Motor nerons Mouse (SV) Reduced axon growth, molecular and functional abnormalities [93,94] Mouse (NSD) Motor neuron degeneration [57] Central and peripheral nervous system Human (T1,...
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads to loss of α-motor neurons, severe muscle weakness and often early death. Standard-of-care recommendations for multidisciplinary ...
Objective:Spinal muscular atrophy (SMA) is pathologically characterized by degeneration of anterior horn cells. Recent observations in animal models of SMA and muscle tissue from patients with SMA suggest additional abnormalities in the development and maturation of the neuromuscular junction. We therefore...
fromSMN2[19]. The symptoms includemuscle weaknessandhypotonia, caused by the degeneration ofmotor neuronsin the spinal cord. For type I, symptoms develop soon after birth and are severe, with very little motor control.Type I spinal muscular atrophyis fatal within 24months of birth. Types II...
Most children with type 3 SMA can walk and stand on their own. They’ll usually fall often and have trouble getting up from a chair and climbing stairs. Muscle weakness is common in their arms and legs. Eventually, they might need a wheelchair to get around. ...
There are several treatment options available for spinal muscular atrophy (SMA), a rare genetic condition characterized by progressive muscle weakness and wasting. The disease mainly affects motor function, but many patients also may experience breathing, swallowing, and speech difficulties, along with ...
Exercise can enhance the lives of people with spinal muscular atrophy (SMA) by improving or maintaining function and quality of life. This is accomplished through activities that help to maintain or increase muscle strength, cardiovascular endurance, and joint flexibility....