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.
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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.