在杜琴和贝克尔肌肉发育不良症中的
Jesus Alfonso Armijo Gómez1, Miguel A Fernandez-Garcia2, Ana Camacho3
1Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
Annals of clinical and translational neurology
|May 2, 2024
概括
杜氏和贝克尔肌肉发育不良症 (DMD/BMD) 中的患病率低于此前认为的. 大多数病例对单药治疗反应良好.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 消极性肌肉变质症是一种消极性肌肉变质症.
背景情况:
- 杜琴和贝克尔肌肉发育不良 (DMD/BMD) 是一种遗传性疾病,由于DMD基因变异,影响肌肉和中枢神经系统 (CNS).
- 是一种已知的伴随性疾病,先前的研究表明其患病率很高.
研究的目的:
- 为了调查患有的人群中的实际患病率.
- 在这个人群中描述脑电图 (EEG) 和类型.
- 探索和肌痛性脊髓炎类型,基因型和认知状态之间的关联.
主要方法:
- 在三个中心 (2010-2023) 进行了416名患有骨质疏松症的个体的回顾性评估.
- 对终身发病率,EEG发现和发作特征的分析.
- 统计分析,以确定与肌痛性肌痛病类型,基因型和认知障碍的相关性.
主要成果:
- 的发病率为1.4% (95% CI:0.7-3.2%),高于一般人群,但低于之前的估计.
- 在DMD和BMD之间或不同基因型之间没有观察到发病率的显著差异.
- 认知障碍与发病率增加没有相关性. 类型与一般儿科患者群体相似,对单一治疗反应良好.
结论:
- 发病的发病率可能比以前报告的要低得多.
- 这些发现完善了对DMD/BMD中中枢神经系统并发症的理解,有助于临床管理.
- 这项研究为医疗保健提供了至关重要的数据,特别是对于同时发生的患者.
更多相关视频
09:57Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
2.6K
09:18Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
10.3K
相关概念视频
01:24Arteries of the Lower Limbs
188
Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
188
01:13Seizures: Classification
339
Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
339
01:21Satellite 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
01:28Disorders of the Skeletal Muscle
935
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...
935
01:43Sex-linked Disorders
102.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.0K
01:20Inborn Errors of Metabolism
157
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
157