Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies

Ain Shams University

Status

Enrolling

Conditions

Egyptian Patients

Congenital Myopathies

Sample

Genotype

Phenotype

Congenital Muscular Dystrophies

Correction

Treatments

Diagnostic Test: Genetic Testing and Muscle Biopsy

Study type

Observational

Funder types

Other

Identifiers

NCT07138963

FMASU MD103/2024

Details and patient eligibility

About

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.

Full 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.

Enrollment

25 estimated patients

Sex

All

Ages

1 to 18 years old

Volunteers

Accepts Healthy Volunteers

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