Duchenne muscular dystrophy: case series of rare inherited muscular disorder

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dc.contributor.authorDewi, I. Gusti Ayu Sri Mahendraen_US
dc.contributor.authorSeputra, Desak Made Cittarasmi Saraswatien_US
dc.date.accessioned2023-08-28T06:36:35Z
dc.date.available2023-08-28T06:36:35Z
dc.date.issued2022-12
dc.description.abstractDuchenne muscular dystrophy (DMD) is a rare muscular disordercaused by mutation of gene encoding dystrophin protein which required for maintaining muscle stability during contraction. DMD occurs in 1 in 5000 male live births and characterized by progressive muscular weakness associated with motor development delay, loss of independent ambulation, respiratory failure, and cardiomyopathy. We present a case series of 3 DMD patients who were diagnosed at Prof. dr. I.G.N.G. Ngoerah general hospital,Denpasar over a period of four years (2019-2022). Clinical manifestation of patients includes progressive weakness of lower extremities and difficulty to stand up from sitting position. Physical examination revealed pseudohypertrophy of calf, winged scapula, positive Gower抯 sign, and waddling gait in all three cases. Supporting examination showed an increase of alanine transaminaseand aspartate transaminase5.6 times and 6.1 times the upper limit of normal, respectively. Definitive diagnosis of all patient was made based on immunohistochemistry staining which revealed an absent of dystrophin protein around muscle membraneen_US
dc.identifier.affiliationsDepartment of Anatomical Pathology, Faculty of Medicine Udayana University/ Prof. dr. I.G.N.G. Ngoerah General Hospital, Denpasar, Bali, Indonesiaen_US
dc.identifier.affiliationsDepartment of Neurology, Wangaya Regional Hospital, Denpasar, Bali, Indonesiaen_US
dc.identifier.citationDewi I. Gusti Ayu Sri Mahendra, Seputra Desak Made Cittarasmi Saraswati. Duchenne muscular dystrophy: case series of rare inherited muscular disorder. International Journal of Advances in Medicine. 2022 Dec; 9(12): 1194-1197en_US
dc.identifier.issn2349-3933
dc.identifier.issn2349-3925
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/225929
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber12en_US
dc.relation.volume9en_US
dc.source.urihttps://dx.doi.org/10.18203/2349-3933.ijam20223021en_US
dc.subjectDMDen_US
dc.subjectDystrophinopathiesen_US
dc.subjectInherited disorderen_US
dc.titleDuchenne muscular dystrophy: case series of rare inherited muscular disorderen_US
dc.typeJournal Articleen_US
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