检测杜恩肌肉衰竭的早期症状:综合性审查和诊断影响
Eugenio Mercuri1,2, Marika Pane1,2, Gianpaolo Cicala1,2
1Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Frontiers in pediatrics
|November 29, 2023
概括
早期诊断杜恩肌肉衰竭 (DMD) 对于有效治疗至关重要. 提高对早期症状的认识和实施常规肌酸激酶查可以显著减少男孩的诊断延迟.
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:
- 杜氏肌肉发育不良 (DMD) 经常出现早期,但诊断是延迟的.
- 延迟诊断阻碍了对新兴疾病修饰疗法的及时干预.
- 早期诊断对于遗传咨询,标准护理和向治疗至关重要.
研究的目的:
- 审查DMD早期症状和诊断挑战.
- 确定DMD诊断途径中的瓶.
- 提出减少DMD诊断延迟的策略.
主要方法:
- 关于早期DMD症状和诊断步骤的综合文献综述.
- 分析导致诊断延迟的因素.
- 评估潜在的缓解策略.
主要成果:
- 显著的诊断延迟 (长达两年) 在DMD中很常见.
- 对早期症状和早期临床查的认识是减少延迟的关键.
- 血清肌酸激酶 (CK) 测试是一种廉价而敏感的查工具.
结论:
- 提高对早期DMD症状的认识至关重要.
- 应鼓励对患有发育迟缓和运动异常的男孩进行血清CK测试的例行查.
- 减少诊断延迟可以及时治疗并改善患者的治疗结果.
相关概念视频
Myasthenia Gravis: Diagnostic Tests
890
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...
890
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
Disorders of the Skeletal Muscle
966
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...
966


