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.
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.
Patients above 18 years.
Spinal muscular atrophy (SMA),and root lesions.
Congenital myasthenic syndromes
Dystrophinopathies,Duchenne Muscular Dystrophy (DMD), Limb-Girdle Muscular Dystrophy (LGMD)
Descriptive Cross-sectional study was caried out on patients with suspected or confirmed congenital myopathies or congenital muscular dystrophies presenting to Ain Shams University Hospitals, recruited over a specific study period.
Cohort
Cross-sectional
Genetic Testing and Muscle Biopsy
Diagnostic testComprehensive diagnostic assessment including clinical examination, electromyography (EMG), muscle biopsy for histopathological evaluation, and genetic testing to determine phenotype-genotype correlation in congenital myopathies and muscular dystrophies.
Phenotype and genotype of congenital myopathies (CM) and congenital muscular dystrophies (CMD) patients
Correlation of the most common clinical presentations and complications among Egyptian patients with congenital myopathies (CM) and congenital muscular dystrophies (CMD) of different genotypes.
Common facial features
Identification and comparison of typical dysmorphic facial features associated with different genetic subtypes of congenital myopathies (CM) and congenital muscular dystrophies (CMD).
Response to physiotherapy
Response to physiotherapy will be recorded.
Prognosis of same genotype across different age groups
The prognosis of the same genotype across different age groups will be recorded.
Click on the lead sponsor to view all of their trials.
