Abstract: Myotonic dystrophy (DM) is a multisystemic genetic disorder characterized by muscle weakness, myotonia, and various systemic manifestations. This article provides a comprehensive review of DM, exploring its clinical manifestations, diagnostic approaches, therapeutic strategies, and emerging treatments. By enhancing our understanding of DM, ophthalmologists can contribute to the multidisciplinary care of affected individuals.

Introduction: Myotonic dystrophy is among the most common muscular dystrophies, encompassing two main subtypes: type 1 (DM1) and type 2 (DM2). Although primarily recognized for its neuromuscular features, DM involves a spectrum of systemic manifestations affecting multiple organs, including the eyes.

Clinical Features: The clinical presentation of DM is heterogeneous and may include muscle weakness, myotonia, cardiac conduction abnormalities, cognitive impairment, and ocular manifestations such as ptosis, ophthalmoplegia, and cataracts. Ophthalmologists play a crucial role in recognizing and managing these ocular manifestations, which can significantly impact patients’ quality of life.

Diagnostic Approaches: Diagnosis of DM relies on a combination of clinical evaluation, genetic testing for the expansion of trinucleotide repeats in the DMPK gene (DM1) or the CNBP gene (DM2), electromyography (EMG) to detect myotonia, and imaging studies to assess for associated abnormalities.

Management Strategies: Management of DM is primarily symptomatic and requires a multidisciplinary approach. Treatment modalities aim to alleviate symptoms, prevent complications, and optimize patients’ functional status. This may involve physical therapy, orthotic devices, cardiac monitoring, cataract surgery, and symptomatic relief for myotonia.

Emerging Therapies: Recent advancements in DM research have led to the exploration of novel therapeutic approaches targeting the underlying molecular mechanisms of the disease. These include antisense oligonucleotide (ASO) therapies, small molecule inhibitors, gene editing techniques, and RNA-targeted therapies, which hold promise for disease modification and symptom alleviation.

Conclusion: Myotonic dystrophy presents complex clinical challenges due to its multisystemic nature and variable clinical expression. Ophthalmologists, as integral members of the multidisciplinary care team, can contribute to the comprehensive management of DM by recognizing ocular manifestations, facilitating timely diagnosis, and coordinating appropriate interventions.

For further reading and reference:

• Muscular Dystrophy Association (MDA) – Myotonic Dystrophy Overview: https://www.mda.org/
• National Institute of Neurological Disorders and Stroke (NINDS) – Myotonic Dystrophy Information Page: https://www.ninds.nih.gov/
• Neurology – Emerging Therapies in Myotonic Dystrophy: https://n.neurology.org/