Literature DB >> 28653137

Duchenne Muscular Dystrophy: A Practice Update.

Renu Suthar1, Naveen Sankhyan2.   

Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by a deficient or defective synthesis of dystrophin protein. DMD is the most common form of muscular dystrophy with an incidence of about 1 in 5000 live boys. Though primarily resulting in progressive muscle weakness, it affects various other organs as well. Heart, brain and smooth muscles are commonly involved, because of expression of dystrophin in these organs. The management of DMD requires a multidisciplinary liaison, anticipatory management and prevention of the complications. Consensus based international recommendation for management of DMD have been published in the year 2010, recognizing DMD as a multi-systemic and progressive disease. The proper management of a boy with DMD can improve ambulation, independence, quality of life and delay disease - related complications. A lot can be done to comfort affected children and their care givers even in a resource limited setting. This review discusses these options and also the current understanding of the disease.

Entities:  

Keywords:  Genetic; Muscle disease; Myopathy; Rehabilitation

Mesh:

Substances:

Year:  2017        PMID: 28653137     DOI: 10.1007/s12098-017-2397-y

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  19 in total

Review 1.  Current concepts in dystrophinopathies.

Authors:  Venkataraman Viswanathan
Journal:  Indian J Pediatr       Date:  2014-11-23       Impact factor: 1.967

Review 2.  Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management.

Authors:  Katharine Bushby; Richard Finkel; David J Birnkrant; Laura E Case; Paula R Clemens; Linda Cripe; Ajay Kaul; Kathi Kinnett; Craig McDonald; Shree Pandya; James Poysky; Frederic Shapiro; Jean Tomezsko; Carolyn Constantin
Journal:  Lancet Neurol       Date:  2009-11-27       Impact factor: 44.182

Review 3.  Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care.

Authors:  Katharine Bushby; Richard Finkel; David J Birnkrant; Laura E Case; Paula R Clemens; Linda Cripe; Ajay Kaul; Kathi Kinnett; Craig McDonald; Shree Pandya; James Poysky; Frederic Shapiro; Jean Tomezsko; Carolyn Constantin
Journal:  Lancet Neurol       Date:  2009-11-27       Impact factor: 44.182

4.  Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).

Authors:  Stuart J Moat; Donald M Bradley; Rachel Salmon; Angus Clarke; Louise Hartley
Journal:  Eur J Hum Genet       Date:  2013-01-23       Impact factor: 4.246

Review 5.  Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.

Authors:  Emanuela Viggiano; Manuela Ergoli; Esther Picillo; Luisa Politano
Journal:  Hum Genet       Date:  2016-04-21       Impact factor: 4.132

6.  Bone health measures in glucocorticoid-treated ambulatory boys with Duchenne muscular dystrophy.

Authors:  Cuixia Tian; Brenda L Wong; Lindsey Hornung; Jane C Khoury; Lauren Miller; Jean Bange; Irina Rybalsky; Meilan M Rutter
Journal:  Neuromuscul Disord       Date:  2016-08-22       Impact factor: 4.296

7.  Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse.

Authors:  A Menke; H Jockusch
Journal:  Nature       Date:  1991-01-03       Impact factor: 49.962

Review 8.  Corticosteroids for the treatment of Duchenne muscular dystrophy.

Authors:  Emma Matthews; Ruth Brassington; Thierry Kuntzer; Fatima Jichi; Adnan Y Manzur
Journal:  Cochrane Database Syst Rev       Date:  2016-05-05

Review 9.  Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology.

Authors:  David Gloss; Richard T Moxley; Stephen Ashwal; Maryam Oskoui
Journal:  Neurology       Date:  2016-02-02       Impact factor: 9.910

10.  Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.

Authors:  Marika Pane; Lavinia Fanelli; Elena Stacy Mazzone; Giorgia Olivieri; Adele D'Amico; Sonia Messina; Marianna Scutifero; Roberta Battini; Roberta Petillo; Silvia Frosini; Serena Sivo; Gian Luca Vita; Claudio Bruno; Tiziana Mongini; Elena Pegoraro; Roberto De Sanctis; Alice Gardani; Angela Berardinelli; Valentina Lanzillotta; Adelina Carlesi; Emanuela Viggiano; Filippo Cavallaro; Maria Sframeli; Luca Bello; Andrea Barp; Flaviana Bianco; Serena Bonfiglio; Enrica Rolle; Concetta Palermo; Grazia D'Angelo; Antonella Pini; Elena Iotti; Ksenija Gorni; Giovanni Baranello; Enrico Bertini; Luisa Politano; Maria Pia Sormani; Eugenio Mercuri
Journal:  Neuromuscul Disord       Date:  2015-07-17       Impact factor: 4.296

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  7 in total

1.  Ambulatory Duchenne muscular dystrophy children: cross-sectional correlation between function, quantitative muscle ultrasound and MRI.

Authors:  Hala Abdulhady; Hossam M Sakr; Nermine S Elsayed; Tamer A El-Sobky; Nagia Fahmy; Amr M Saadawy; Heba Elsedfy
Journal:  Acta Myol       Date:  2022-03-31

Review 2.  Implications of Insulin-Like Growth Factor-1 in Skeletal Muscle and Various Diseases.

Authors:  Syed Sayeed Ahmad; Khurshid Ahmad; Eun Ju Lee; Yong-Ho Lee; Inho Choi
Journal:  Cells       Date:  2020-07-24       Impact factor: 6.600

3.  Dystrophin gene editing by CRISPR/Cas9 system in human skeletal muscle cell line (HSkMC).

Authors:  Mahintaj Dara; Vahid Razban; Mohsen Mazloomrezaei; Maryam Ranjbar; Marjan Nourigorji; Mehdi Dianatpour
Journal:  Iran J Basic Med Sci       Date:  2021-08       Impact factor: 2.699

4.  Cardiac MRI and Echocardiography for Early Diagnosis of Cardiomyopathy Among Boys With Duchenne Muscular Dystrophy: A Cross-Sectional Study.

Authors:  Nidhi Prakash; Renu Suthar; Bhupendra Kumar Sihag; Uma Debi; Rohit Manoj Kumar; Naveen Sankhyan
Journal:  Front Pediatr       Date:  2022-03-14       Impact factor: 3.418

5.  The Expanding Spectrum of Dystrophinopathies: HyperCKemia to Manifest Female Carriers.

Authors:  Renu Suthar; Shivan Kesavan; Indar K Sharawat; Manisha Malviya; Titiksha Sirari; Bhupendra K Sihag; Arushi G Saini; Vishalavath Jyothi; Naveen Sankhyan
Journal:  J Pediatr Neurosci       Date:  2021-07-02

6.  Celiac Disease in a Boy with Duchenne Muscular Dystrophy: A Double Jeopardy!

Authors:  Indar K Sharawat; Shruti Sharma; Renu Suthar; Babu R Thapa
Journal:  Ann Indian Acad Neurol       Date:  2020-12-08       Impact factor: 1.383

7.  DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.

Authors:  Edmond Wonkam-Tingang; Séraphin Nguefack; Alina I Esterhuizen; David Chelo; Ambroise Wonkam
Journal:  Mol Genet Genomic Med       Date:  2020-06-15       Impact factor: 2.473

  7 in total

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