MYOTONIC DYSTROPHY TYPE 1: FROM ORIGIN TO MODERN CONTROL: A COMPREHENSIVE REVIEW

Abstract

Background: Myotonic Dystrophy Type 1 (DM1) (OMIM 160900) is an autosomal dominant, multisystemic disorder characterized by a range of phenotypic manifestations and progressive disease course. It is the most common muscular dystrophy in adults and is known for its variable symptoms and significant impact on quality of life.
Objective: This review aims to provide a comprehensive overview of DM1, including its history, epidemiology, causes, symptoms, pathogenesis, genetic basis, and current diagnostic and therapeutic strategies.
Methods: We conducted a literature review focusing on historical developments, molecular mechanisms, clinical manifestations, and treatment approaches related to DM1. Data were synthesized from a range of academic sources and primary research articles.

Results: DM1 was first described in 1909 and has since been linked to CTG repeat expansions in the DMPK gene. Epidemiological studies show variable frequencies of DM1 across different regions, with higher incidences in Europe compared to Asia. The disorder 
presents with diverse symptoms including muscular weakness, cardiac abnormalities, respiratory issues, endocrine dysfunctions, and nervous system complications. The underlying pathogenesis involves toxic RNA gain-of-function effects resulting from expanded CTG repeats. While no cure exists, supportive treatments and emerging gene therapies offer hope for managing symptoms and potentially correcting the underlying genetic defects.
Conclusions: DM1 remains a challenging disorder with a complex pathophysiology. Advances in molecular genetics and therapeutic strategies, including gene editing technologies, are paving the way for improved management and potential future treatments.