脊椎结节症的内马林肌病症:一个病例报告
Jin Huang1, Chen Zhang1, Jing Li1
1Gansu Provincial Hospital of Traditional Chinese Medicine, Lanzhou, Gansu, China.
Frontiers in pediatrics
|October 30, 2024
概括
尼马林肌病,一种罕见的肌肉疾病,不常见地会导致脊椎病. 这一案例突出了由于特定的遗传突变而导致的脊椎病的罕见临床表现.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 整形外科 整形外科 整形外科
背景情况:
- 尼马林肌病 (NM) 是一种罕见的先天性神经肌肉疾病,其特征是肌肉疲软和缩.
- 肌肉衰弱的继发性脊椎病是NM的一种不常见的并发症.
研究的目的:
- 报告一个罕见的尼马林肌肉病症病例,由脊椎病复杂化.
- 通过文献综述,分析脊柱形脊椎病的MN的临床特征.
主要方法:
- 临床病例的介绍.
- 关于NM和脊椎病的文献综述.
主要成果:
- 一个患有NM的患者呈现出脊椎病,这是一个罕见的临床表型.
- 遗传分析揭示了致病基因中的复合异构基因突变 (c.12471+3A>G和c.7727G>A).
结论:
- 尼马林肌病症可以伴随着脊椎病变,代表一种罕见的临床表现.
- 遗传因素在NM的发展及其相关并发症 (如脊椎病) 中起着至关重要的作用.
关键词:
在 NEB 基因中,NEB 基因被发现.临床临床临床临床临床临床临床肌肉疲弱 肌肉疲弱 肌肉疲弱尼马林神经病变 (nemaline myopathy) 是一种神经病变.脊柱体脊椎病是什么?脊柱体脊椎病是什么?更多相关视频
06:28Biomechanical Changes Related to Low Back Pain: An Innovative Tool for Movement Pattern Assessment and Treatment Evaluation in Rehabilitation
Published on: December 13, 2024
434
08:16Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
31.7K
相关概念视频
Disorders of the Skeletal Muscle
896
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...
896
Myasthenia Gravis: Diagnostic Tests
673
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...
673
Skeletal Muscle Relaxants: Therapeutic Uses
468
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...
468
