Congenital Muscular Dystrophies, Congenital Myopathies, Correction, Egyptian Patients, Genotype, Phenotype, Sample
Conditions
Brief summary
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.
Detailed description
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.
Interventions
DIAGNOSTIC_TESTGenetic Testing and Muscle Biopsy
Comprehensive 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.
Sponsors
Ain Shams University
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
1 Years to 18 Years
Healthy volunteers
Yes
Inclusion criteria
* 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.
Exclusion criteria
* 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Phenotype and genotype of congenital myopathies (CM) and congenital muscular dystrophies (CMD) patients | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Common facial features | Two years | 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 | Two years | Response to physiotherapy will be recorded. |
| Prognosis of same genotype across different age groups | Two years | The prognosis of the same genotype across different age groups will be recorded. |
Countries
Egypt
Contacts
Primary ContactNouran M Sabry, MSc
Outcome results
None listed