Some of the greatest challenges in NBIA include describing and managing a spectrum of neuromuscular changes that can include dystonia, spasticity, weakness and/or parkinsonism. To prepare for clinical trials and accurately measure whether an intervention is working, we need robust markers of disease progression.

There are several rating scales already available for symptoms such as dystonia, but they are not tailored to NBIA patients. The current dystonia rating scales cannot take into consideration the other movement disturbances of NBIA that may interfere with the measurement or detection of dystonia symptoms. Therefore, we are currently developing our own rating scales that will primarily focus on function in patients with NBIA disorders.

We are also in the process of developing NBIA milestone surveys. These will be completed by affected individuals and will be used to characterize the natural history of each specific NBIA disorder. Each survey will ask questions to determine which symptoms patients have, when they first appeared, and in what order they appeared. They will be administered at regular intervals over several years to measure changes over time.

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