Open AccessDuchenne muscular dystrophy: Case report and review
Author(s) -
Rupam Sinha,
Subhendu Sarkar,
Tanya Khaitan,
Soumyajit Dutta
Publication year - 2017
Publication title -
journal of family medicine and primary care
Language(s) - English
Resource type - Journals
eISSN - 2278-7135
pISSN - 2249-4863
DOI - 10.4103/2249-4863.222015
Subject(s) - medicine , duchenne muscular dystrophy , muscular dystrophy , weakness , pediatrics , quality of life (healthcare) , muscle weakness , physical therapy , physical medicine and rehabilitation , surgery , nursing
Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD) is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications. Treatment modalities such as corticosteroid therapy and use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life, and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. Here, we present a case of DMD in a 12-year-old male with remarkable clinical and oral manifestations.