肌肉通道病变 肌肉通道病变
Vinojini Vivekanandam1, Dipa Jayaseelan2, Michael G Hanna1
1Centre for Neuromuscular Disorders, Queen Square UCL Institute of Neurology, London, United Kingdom.
Handbook of clinical neurology
|August 10, 2023
概括
肌肉通道病症会导致偶尔的肌肉硬和软弱. 通过基因测序进行诊断,可以为这些罕见的遗传疾病提供量身定制的症状治疗.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
背景情况:
- 肌肉通道病是一种偶发性疾病,会导致肌肉硬和软弱.
- 包括肌性疾病 (例如,先天性肌) 和周期性 (例如,低血性周期性).
研究的目的:
- 总结我们目前对肌肉通道病的理解.
- 突出诊断方法和管理策略.
- 强调基因诊断对于量身定制治疗的重要性.
主要方法:
- 对临床病史特征的审查.
- 已知基因组的下一代遗传测序.
- 补充神经生理学研究和MRI.
- 多学科的管理方法.
主要成果:
- 基因测序是主要的诊断工具.
- 扩大基因测试揭示了更广泛的表型.
- 管理需要一个多学科的团队,包括心脏专家安德森-塔维尔综合征.
- 有可用的症状治疗方法,必须是基因/变异特异的.
结论:
- 准确的诊断对于有效的,个性化的症状治疗至关重要.
- 管理需要多学科的方法,特别考虑麻醉和怀孕.
- 遗传洞察力指导肌肉通道病变的量身定制治疗策略.
相关概念视频
Disorders of the Skeletal Muscle
994
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
994
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
Cardiomyopathy III: Hypertrophic Cardiomyopathy
16
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
16
Cardiomyopathy I: Introduction and Classification
15
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
15
Chemical Synapses
8.9K
Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...
8.9K
Muscle Contraction
6.5K
In skeletal muscles, acetylcholine is released by nerve terminals at the motor endplate—the point of synaptic communication between motor neurons and muscle fibers. The binding of acetylcholine to its receptors on the sarcolemma allows entry of sodium ions into the cell and triggers an action potential in the muscle cell. Thus, electrical signals from the brain are transmitted to the muscle. Subsequently, the enzyme acetylcholinesterase breaks down acetylcholine to prevent excessive...
6.5K


