Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- Phenotype and genotype of congenital myopathies (CM) and congenital muscular dystrophies (CMD) patients
研究概览
简要总结
The aim of this study is to correlate the phenotype and genotype among a sample of Egyptian patients with Congenital myopathies and Congenital muscular dystrophies.
详细描述
Congenital Muscular dystrophies (CMDs) and Congenital Myopathies (CMs) constitute the two most important groups of congenital muscle diseases with early onset whether at birth or early infancy.
CMDs and CMs as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the era of next generation sequencing. However, it has become clear that there is overlap between CMDs and CMs on the clinical, pathological and genetic level.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 1 Year 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients with clinical criteria of Congenital Myopathies (CMs) and Congenital Muscular dystrophies (CMDs) with different modes of inheritance.
- •Age: patients below age of 18 years.
- •Gender: Both males and females are included
- •Genetically confirmed CMs and CMDs.
排除标准
- •Patients above 18 years.
- •Spinal muscular atrophy (SMA),and root lesions.
- •Congenital myasthenic syndromes
- •Dystrophinopathies,Duchenne Muscular Dystrophy (DMD), Limb-Girdle Muscular Dystrophy (LGMD)
- •.Metabolic myopathies
- •.Inflammatory muscle diseases
结局指标
主要结局
Phenotype and genotype of congenital myopathies (CM) and congenital muscular dystrophies (CMD) patients
时间窗: Two years
Correlation of the most common clinical presentations and complications among Egyptian patients with congenital myopathies (CM) and congenital muscular dystrophies (CMD) of different genotypes.
次要结局
- Common facial features(Two years)
- Response to physiotherapy(Two years)
- Prognosis of same genotype across different age groups(Two years)
研究者
Nouran Mohamed Sabry Abdel Aziz
Assistant Lecturer of Neurology and Psychiatry Department, Faculty of Medicine, Ain Shams University, Egypt.
Ain Shams University