Genetic 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.
Study 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.
Eligibility
Sex
ALL
Min age
1 Year
Max age
18 Years
Healthy volunteers
Accepted
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
Primary outcome measure(s)
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.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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