Muscle dystrophies in children: Genetic and clinical correlation

Aya Mohamed Elsayed Elgamal; Marian Yousry Fahmy Girgis; Rania Hamdy Hashim; Omneya Gamal Eldin Afify; Walaa Mohamed Hassen Elnaggar

doi:10.53730/ijhs.v6nS8.10401

Authors

Aya Mohamed Elsayed Elgamal Pediatric Department, Faculty of Medicine Cairo University, Egypt
Marian Yousry Fahmy Girgis Pediatric Department, Faculty of Medicine Cairo University, Egypt
Rania Hamdy Hashim Radiology Department, Faculty of Medicine Cairo University, Egypt
Omneya Gamal Eldin Afify Pediatric Department, Faculty of Medicine Cairo University, Egypt
Walaa Mohamed Hassen Elnaggar Pediatric Department, Faculty of Medicine Cairo University, Egypt

Keywords:

muscle dystrophies, DMD, LGMD, DM, distal dystrophy, genetics

Abstract

Muscular dystrophies are a heterogeneous inherited group of disorders characterized by a variable distribution of weakness, various ages of onset, the pattern of inheritance, rate of progression, and clinical severity. Muscle degeneration and regeneration characterize muscle biopsy and these disorders are typically associated with elevated serum creatine kinase. Objective: We wanted to study the clinical characteristics of patients with muscle dystrophies and study clinical and genetic correlation in patients with Duchenne muscular dystrophy. Methods: This cross-sectional descriptive study included a cohort of 60 patients diagnosed with muscular dystrophy and fulfilling the inclusion criteria. All patients were subjected to full history taking and full neurological examination. Results: Patients are divided into five groups to study clinical characteristics in each group. 1. Duchenne muscular dystrophy group: included 30 patients who have genetically confirmed DMD cases (50 %), 2. Limb-girdle muscular dystrophy group: included 23 patients (38.3 %), 3. Myotonic dystrophy group: included 3 patients (5 %), 4. Congenital muscular dystrophy group: included 3 patients who were diagnosed clinically as merosin deficient congenital muscle dystrophy (5 %), 5. Distal dystrophy group: included 1 patient with distal muscle dystrophy (1.7 %). Mean age, gender, age of symptoms onset, main motor symptoms, CPK level, echocardiography.

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