CLINICAL AND GENETIC ASPECTS OF MUSCULAR DYSTROPHY IN DIVISION SAHIWAL, PUNJAB PAKISTAN

Abstract

Background: Muscular dystrophy (MD) comprises a group of inherited neuromuscular disorders characterized by progressive muscle weakness, atrophy, and loss of function. These disorders exhibit various inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked transmission. The prevalence and genetic distribution of MD vary across populations, necessitating region-specific epidemiological studies. Understanding the clinical presentation and inheritance patterns of MD is crucial for improving diagnostic strategies and management. This study aimed to investigate the prevalence, inheritance patterns, and clinical characteristics of MD among selected families in Division Sahiwal, Punjab, Pakistan.

Objective: To determine the prevalence, inheritance modes, and clinical manifestations of muscular dystrophy in affected families of Division Sahiwal, Punjab, Pakistan.

Methods: A mixed-method epidemiological and clinical study was conducted, incorporating qualitative and quantitative approaches. A survey was performed across schools, colleges, hospitals, and villages in Division Sahiwal to identify individuals with MD. Families with confirmed cases were selected for detailed pedigree analysis. Seven families, comprising 280 individuals, were examined, and inheritance patterns were assessed. Blood samples were collected from affected individuals for genetic analysis. Data were statistically analyzed using Minitab version 19.0, with frequency and prevalence rates calculated as percentages.

Results: The overall prevalence of MD in the studied families was 10.25%. Among the 280 individuals surveyed, 28 were affected, including 13 males (9.70% of total males) and 15 females (10.27% of total females). Consanguinity was present in 85.71% of families. The highest prevalence was observed in Swl-Vil-MD-89R (13.0%), followed by Swl-Vil-MD-35L (12.1%), Swl-Vil-MD-88R (11.76%), Swl-Vil-MD-99L (11.11%), Swl-Vil-MD-68R (8.1%), Swl-CIT-MD-PC (7.1%), and Swl-Vil-MD-96L (6.25%). Pedigree analysis confirmed the persistence of MD across generations, predominantly following an autosomal dominant pattern.

Conclusion: This study highlights a high prevalence of MD in consanguineous families, emphasizing the need for genetic counseling and public awareness campaigns. Future research should incorporate advanced genetic sequencing to identify specific mutations and develop targeted interventions for disease management.