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1. Myotonic Dystrophy (DM)

   Myotonic dystrophy, comprising type 1 (DM1) and type 2 (DM2), is the most common form of muscular dystrophy, characterized by multisystemic...

   Himanshu **dal, Efa Khan, Nikhil Verma in Genetic Syndromes

   Living reference work entry 2024
   

2. Myotonic Dystrophy Type 2 and Cardiomyopathy

   A 55-year-old male known for myotonic dystrophy type II (DM2) in the background history of hypertension and diabetes presented with exertional...

   Atooshe Rohani in Clinical Cases in the Management of Complex Cardiovascular Disease

   Chapter 2023
   

3. Myotonic Dystrophy

   The myotonic disorders encompass a range of genetic conditions unified by the presence of myotonia, a failure of muscle relaxation after activation....

   Mary E. Dubon, Elizabeth N. Martin, Andrea Paulson in Orthopaedics for the Newborn and Young Child

   Chapter 2023
   

4. Greater cortical thinning and microstructural integrity loss in myotonic dystrophy type 1 compared to myotonic dystrophy type 2

   Background

   Myotonic dystrophy is a multisystem disorder characterized by widespread organic involvement including central nervous system symptoms....

   Britta Krieger, Christiane Schneider-Gold, ... Carsten Lukas in Journal of Neurology

   Article Open access 19 June 2024
   

5. Afterdischarges in myotonic dystrophy type 1

   Objective

   Electrodiagnostic testing is an important screening test for myotonic dystrophy type 1 (DM1). Although myotonic discharges are observed on...

   Li Yang, **uying Chen, Rui Wu in Neurological Sciences

   Article 16 August 2023
   

6. Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2

   Myotonic dystrophy type 2 (DM2) is an autosomal-dominant multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy,...

   Felix Kleefeld, Rita Horvath, ... Werner Stenzel in Acta Neuropathologica

   Article Open access 19 January 2024
   

7. Myotonic Dystrophy

   A 31-year-old gentleman presented with gait imbalance since childhood. He was unable to run in school sports and playground and used to fall...

   Hrishikesh Kumar, Purba Basu in Case-based Approach to Common Neurological Disorders

   Chapter 2024
   

8. Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release

   Myotonic dystrophy type 2 (DM2) is a tetranucleotide CCTG repeat expansion disease associated with an increased prevalence of autoimmunity. Here, we...

   Sarah Rösing, Fabian Ullrich, ... Claudia Günther in Nature Communications

   Article Open access 20 February 2024
   

9. Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing

   Several neurological disorders, such as myotonic dystrophy are caused by expansions of short tandem repeats (STRs) which can be difficult to detect...

   Haloom Rafehi, Cherie Green, ... Melanie Bahlo in European Journal of Human Genetics

   Article Open access 09 August 2022
   

10. Sleep Disorders and Fatigue in Patients with Different Forms of Myotonic Dystrophy Type 1

    Objectives . To characterize sleep disorders in children and adults with different forms of myotonic dystrophy type 1 (DM1) and to evaluate their...

    E. K. Erokhina, E. A. Melnik, ... D. V. Vlodavets in Neuroscience and Behavioral Physiology

    Article 01 January 2024

11. Myotonic dystrophy type 1 in the COVID-19 era

    Introduction

    Myotonic dystrophy type 1 (DM1) is the most prevalent muscular dystrophy in adults. People with DM1 might represent a high-risk...

    Jelena Ilic Zivo**ovic, Katarina Djurdjevic, ... Stojan Peric in Neurological Sciences

    Article Open access 08 May 2023
    

12. Update on Therapy for Myotonic Dystrophy Type 1

    Purpose of review

    This review aimed to summarize the clinical characteristics of myotonic dystrophy type 1 and to provide a comprehensive review of...

    Vukan Ivanovic, Giovani Meola, ... Stojan Peric in Current Treatment Options in Neurology

    Article 14 July 2023

13. Clinical score for early diagnosis of myotonic dystrophy type 2

    Introduction

    Myotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is...

    Vukan Ivanovic, Stojan Peric, ... Vidosava Rakocevic-Stojanovic in Neurological Sciences

    Article Open access 19 November 2022
    

14. Heterogeneity of cognitive impairments in myotonic dystrophy type 1 explained by three distinct cognitive profiles

    Background

    Severity and nature of cognitive impairments in Myotonic dystrophy type 1 (DM1) are heterogeneous among studies. We hypothesized that this...

    Jean-Baptiste Davion, Céline Tard, ... Xavier Delbeuck in Journal of Neurology

    Article 06 May 2024
    

15. Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1

    Background

    As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are...

    Huahua Zhong, Li Zeng, ... Sushan Luo in Orphanet Journal of Rare Diseases

    Article Open access 07 March 2024
    

16. Myotonic Dystrophies

    Myotonic dystrophies (DM) are the most common muscular dystrophies in adults. They include myotonic dystrophy type 1 (DM1) or Steinert’s disease, and...

    Gabriella Silvestri, Anna Modoni in Principles and Practice of the Muscular Dystrophies

    Chapter 2023
    

17. Current Treatment Options for Patients with Myotonic Dystrophy Type 2

    Purpose of the review

    Myotonic dystrophy types 1 and 2 are frequent forms of muscular dystrophies in adulthood. Their clinical differences need to be...

    Federica Montagnese in Current Treatment Options in Neurology

    Article Open access 27 September 2021
    

18. CaMKIIβ deregulation contributes to neuromuscular junction destabilization in Myotonic Dystrophy type I

    Background

    Myotonic Dystrophy type I (DM1) is the most common muscular dystrophy in adults. Previous reports have highlighted that neuromuscular...

    Denis Falcetta, Sandrine Quirim, ... Perrine Castets in Skeletal Muscle

    Article Open access 21 May 2024
    

19. Ocular findings in a Spanish cohort of myotonic dystrophy type 1

    Purpose

    Myotonic dystrophy type 1 is the most common muscular dystrophy in adulthood, caused by a triplet repeat in chromosome 19q13.3. The present...

    Ignacio García-Cruz, Francisco José Muñoz-Negrete, ... David Mingo-Botín in Graefe's Archive for Clinical and Experimental Ophthalmology

    Article 04 November 2022
    

20. Myotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks

    Background and purpose

    Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder characterized by myotonia and progressive muscle...

    Incheol Seo, **-Mo Park in Neurological Sciences

    Article 13 April 2024