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

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.

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