脊柱肌肉缩:一种 (现在) 可治疗的神经退行性疾病
1University of California, San Francisco, 1875 4th Street., Suite 5A, San Francisco, CA 94158, USA.
Pediatric clinics of North America
|September 13, 2023
概括
脊柱肌缩 (SMA) 治疗已经改变了患者的治疗结果. 早期干预新型疗法,包括基因疗法,使得正常发育,并改善了许多儿童的终身健康SMA.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 脊椎肌肉缩 (SMA) 是一种严重的,渐进的神经肌肉疾病,由SMN1基因损失引起.
- 它导致运动神经元退化,肌肉衰弱,残疾,在严重的情况下,往往是致命的.
研究的目的:
- 审查SMA治疗的最新进展.
- 突出新疗法对患者治疗结果的影响.
- 讨论对罕见的SMA类型的新兴研究.
主要方法:
- 审查SMA管理的近期治疗发展.
- 对症状前和症状患者治疗结果的分析.
- 对非SMN1相关的SMA正在进行的研究进行讨论.
主要成果:
- 六年来出现了三种新的治疗方法 (两种拼接修饰剂,一种基因疗法).
- 预症状治疗导致正常的早期运动发育.
- 从婴儿期到成年期观察到治疗效益.
结论:
- 最近的治疗突破已经彻底改变了SMA的管理.
- 早期干预对于实现最佳的发展和长期结果至关重要.
- 研究方法正在扩大,以解决较罕见的SMA形式.
更多相关视频
06:51Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
Published on: August 10, 2018
7.7K
10:49Intraspinal Cell Transplantation for Targeting Cervical Ventral Horn in Amyotrophic Lateral Sclerosis and Traumatic Spinal Cord Injury
Published on: September 18, 2011
20.7K
相关概念视频
Myasthenia Gravis: Overview and Treatment
1.6K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
1.6K
Parkinson's Disease: Overview
592
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
592
Parkinson's Disease: Treatment
295
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
295
Satellite Stem Cells and Muscular Dystrophy
2.0K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.0K
Skeletal Muscle Relaxants: Therapeutic Uses
511
Skeletal muscle relaxants are used to relax muscle tone and alleviate painful muscle contractions. However, the choice of skeletal muscle relaxants depends on the duration of the surgical procedure in order to minimize potential side effects. Skeletal muscle relaxants like neuromuscular blocking agents [NMBAs] are commonly employed as adjuvants alongside general anesthetics in clinical settings. NMBAs are also used to maintain controlled ventilation during surgery of the larynx or pharynx...
511
Myasthenia Gravis: Diagnostic Tests
978
Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
978
