Assessment of upper limb function in non ambulant Duchenne muscular dystrophy

The literature on measures assessing upper limbs in DMD and more generally in neuromuscular disorders is mainly related to studies performed in the 90s. While there have been considerable advances for ambulant DMD boys, no prospective study has so far been devoted to this cohort, with increasing complaints from families and patients. This information appears to be highly important not only for a better understanding of the progression of the disease but also for a possible enrollment of patients in future trials. The aim of this project is to identify outcome measures for non ambulant patients affected by DMD in an Italian population of patients At least 200 DMD boys and adults affected by DMD with genetically confirmed diagnosis of DMD who have lost ambulation will be included in the study. All will be assessed using a a number of measures assessing upper limb function trying to identify aspects of function that are important in everyday life. These measures will be used at baseline and 6, 12 and 18 months after baseline. This will allow to monitor possible changes over time and the rate of changes in patients with different level of ability and age. This will provide information on the progression of the disease and will allow to identify the measures that are most suitable for possible clinical trials.