Stroke in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is the most frequent muscular dystrophy with an incidence of 1 in 3600 to 6000 male births. The disease usually manifests between the third and fifth year of life and leads to a steady decline in strength and motor function, contractures, and loss of ambulation between 9 and 13 years of age. Furthermore, the lack of dystrophin protein expression in cardiac tissue of DMD patients is frequently associated with cardiomyopathy. The diagnosis of DMD is nowadays established by mutation analysis of the dystrophin gene or lack of dystrophin protein expression in diagnostic muscle biopsies. In years previous to the identification of the underlying dystrophin gene defect, DMD was diagnosed on the basis of its typical clinical presentation, very high creatine kinase levels, and dystrophic muscle biopsy findings. To date, no curative therapy is available for DMD, and most patients die in the second to forth decade of life because of respiratory or cardiac failure. Although cardiomyopathy is a frequent and prognosis-defining feature of DMD, just a small number of cases with stroke in DMD patients has been reported to date (Table). In this study, we retrospectively analyzed the frequency, cause, and outcome of stroke in a German cohort of 54 DMD patients, who lived in a regional facility for handicapped people between 1963 and 2013.