A rare case of a girl with Duchenne muscular dystrophy (DMD) complicated by acute respiratory distress syndrome was recently reported in the Journal of Medical Case Reports.
“This case report highlights a rare presentation of acute respiratory distress in a female patient with Duchenne muscular dystrophy, an underreported occurrence in the clinical literature,” the authors wrote.
Because the disease is linked to the X chromosome, it typically affects boys, with very few symptomatic cases in girls reported in the literature.
The case involved a 13-year-old Jordanian girl with a genetically confirmed DMD diagnosis who was admitted to the pediatric care unit due to severe acute respiratory distress. The symptoms began five days prior to admission, when the patient presented with fever, headache, cough, abdominal pain and nausea. She had a history of failure to thrive, difficulty gaining weight and delayed growth.
Physical examination upon admission revealed an oxygen saturation level of 90% (the normal value is 95%-100%), wheezing during breathing, and decreased breath sounds in the lungs. A chest X-ray revealed mild scoliosis, collapsed areas of the lung (atelectasis) and widening of the bronchi (bronchiectasis).
Testing found elevated creatine phosphokinase levels, suggestive of muscular injury. In light of the findings her physicians initiated further genetic testing, which is currently underway.
What is creatine kinase?
Creatine kinase (CK) is an enzyme found in muscles. When muscles become damaged, CK leaks out of the muscles and into the bloodstream. In diagnosing DMD, CK levels are checked in a blood sample and if they are unusually high, this is a key indicator of DMD.
Following her diagnosis, the patient began respiratory therapy, chest physiotherapy and nebulization treatments and a specialized nutrition regimen. Additionally, the patient began oxygen support therapy through a nasal cannula. Due to her breathing difficulty the patient was unable to move often and constant pressure releasing measures were required to prevent pressure ulcers. A consult with a dietitian was required to maintain a proper caloric intake during this period.
Learn more about DMD treatment and care
With this comprehensive care plan, the patient exhibited significant improvement over the following weeks and was discharged with a breathing machine. Her parents were educated on appropriate home care measures.
“This case underscores the critical importance of a multidisciplinary approach integrating respiratory therapy, nutritional support, and ongoing genetic monitoring to effectively address the complex care needs of individuals with DMD.”
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