Search

Search Results

1. Muscular Dystrophy Therapeutics Methods and Protocols

   This detailed book presents a comprehensive collection of state-of-the-art protocols on muscular dystrophy therapeutics, covering therapeutics using...

   Rika Maruyama, Toshifumi Yokota in Methods in Molecular Biology

   Book 2023
   

2. 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
   

3. Facioscapulohumeral Muscular Dystrophy

   Facioscapulohumeral muscular dystrophy is the most prevalent dominantly-inherited muscular dystrophy after myotonic dystrophy. The most distinctive...

   Johanna Hamel, Rabi Tawil in Principles and Practice of the Muscular Dystrophies

   Chapter 2023
   

4. Duchenne Muscular Dystrophy

   Duchenne and Becker muscular dystrophies are conditions characterized by progressive, symmetrical proximal muscle group weakness of the lower...

   Angielyn San Juan, John J. Grayhack in Orthopaedics for the Newborn and Young Child

   Chapter 2023
   

5. 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
   

6. Muscular Dystrophy: Mutations in the Dystrophin Gene

   Muscular dystrophy (MD) is a heterogeneous group of genetic disorders characterized by progressive muscle degeneration and weakness, leading to...

   Aishwarya Agarwal, Kunal Verma, ... Shobhit Kumar in Mechanism and Genetic Susceptibility of Neurological Disorders

   Chapter 2024
   

7. Nationwide epidemiologic survey on incidence of macular dystrophy in Japan

   Purpose

   The aim of this study was to estimate the number of patients in Japan who had visited an ophthalmologist for macular dystrophy of various...

   Shinji Ueno, Takaaki Hayashi, ... Mineo Kondo in Japanese Journal of Ophthalmology

   Article 03 April 2024

8. Oculopharyngeal Muscular Dystrophy

   Oculopharyngeal Muscular Dystrophy (OPMD) is a late-onset usually dominant muscular dystrophy with a worldwide variable prevalence. It usually starts...

   Bernard Brais in Principles and Practice of the Muscular Dystrophies

   Chapter 2023
   

9. Facioscapulohumeral Muscular Dystrophy (FSHD)

   For shoulder surgeons, rotator cuff tears and tendinitis, frozen shoulder, and anterior shoulder instability are common diseases. On the other hand,...

   Eiji Itoi in Shoulderology

   Chapter 2023
   

10. 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
    

11. Rigid Spine Muscular Dystrophy

    Rigid spine muscular dystrophy (RSMD) is a rare congenital myopathy linked to mutations in the SEPN1 gene on chromosome 1p36, following an autosomal...

    Benjamin Hajnal in Genetic Syndromes

    Living reference work entry 2023
    

12. Spontaneous Diaphragmatic Rupture in Muscular Dystrophy Misdiagnosed as Pneumothorax: a Case Report

    Diaphragmatic rupture is almost always iatrogenic with variable presentation. It should be diagnosed with high suspicion index in blunt thoracic...

    Pavan Kumar Dammalapati in SN Comprehensive Clinical Medicine

    Article 30 November 2023
    

13. Muscular Dystrophy: Underlying Cellular and Molecular Mechanisms and Various Nanotherapeutic Approaches for Muscular Dystrophy

    Muscular dystrophy (MD) corresponds to a cluster of approximately 30–40 genetically controlled diseases, which exhibit inheritance patterns that are...

    Durafshan Sakeena Syed, Mohamad Sultan Khan, ... Tariq Maqbool in Mechanism and Genetic Susceptibility of Neurological Disorders

    Chapter 2024
    

14. Cone Dystrophy/Cone-Rod Dystrophy

    Cone dystrophy is a rare genetic retinal disorder characterized by primary cone degeneration and secondary rod involvement, with a variable fundus...

    Jung Hyun Park in Inherited Retinal Disease

    Chapter 2022
    

15. Epidermolysis Bullosa Simplex with Muscular Dystrophy

    Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a rare, life-threatening disorder with an autosomal recessive inheritance that...

    Amirhossein Heidari, Yekta Ghane, Nima Rezaei in Genetic Syndromes

    Living reference work entry 2023
    

16. Fuchs endothelial corneal dystrophy: an updated review

    Purpose

    The present review will summarize FECD-associated genes and pathophysiology, diagnosis, current  therapeutic approaches, and future treatment...

    Francisco Altamirano, Gustavo Ortiz-Morales, ... Jorge E. Valdez-Garcia in International Ophthalmology

    Article 12 February 2024
    

17. Vitelliform Macular Dystrophy

    Vitelliform macular dystrophy (VMD) is a group of macular dystrophy characterized by the subretinal accumulation of yellow yolk-like materials, which...

    Min Kim, Hyeong-Gon Yu in Inherited Retinal Disease

    Chapter 2022
    

18. AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges

    The co-occurrence of genetic myopathies with myasthenia gravis (MG) is extremely rare, however a few studies have been reported. We aim to explore...

    Anna Rosa Avallone, Vincenzo Di Stefano, ... Claudia Vinciguerra in Neurological Sciences

    Article 05 July 2024
    

19. Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)

    Background

    Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well...

    Madoka Mori-Yoshimura, Keiko Ishigaki, ... Harumasa Nakamura in Orphanet Journal of Rare Diseases

    Article Open access 30 April 2024
    

20. 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