Myotonic Dystrophy (DM)

Myotonic dystrophy, comprising type 1 (DM1) and type 2 (DM2), is the most common form of muscular dystrophy, characterized by multisystemic involvement and progressive hereditary traits. It manifests variably across ages, with onset typically in the 20s and 30s. Genetic mutations in the DMPK gene (DM1) and CNBP gene (DM2) lead to toxic RNA accumulation, disrupting cellular processes. Clinical presentation encompasses a spectrum of manifestations affecting various bodily systems. Diagnosis relies on genetic testing and may involve ancillary tests like serum CK levels, electromyogram, and muscle biopsy. Management focuses on symptomatic relief through multidisciplinary care, including physiotherapy, cardiac monitoring, respiratory function tests, and genetic counselling. Regular follow-up is essential due to the progressive nature of the disease, impacting prognosis and necessitating lifelong monitoring for potential complications. Though incurable, appropriate management enhances the quality of life for individuals affected by myotonic dystrophy.