Clinical spectrum of motor neuron disease

Research aim

Motor neuron disease (MND) are a collection of disorder that primarily lead to progressive weakness and/or spasticity. The goal is better understand and treat the extensive clinical heterogeneity in MND.

About us

There are many different forms of MND, including ALS, SMA, Kennedy’s disease, etc. Several of these can be diagnosed through DNA testing. However, in many cases the diagnosis by exclusion and only becomes clear over time by following the development of the clincal phenotype. Compliating matters is that phenotypes can be heterogeneous, but may overlap as well. This makes diagnosing patients challenging and leads to prognostic uncertainty.
The goal is to better understand what drives this phenotypic heterogeneity and developing better diagnostic tools and provide patients with a more accurate prognosis by studying the natural history, This will also lead to the identifcation of disease specific biomarkers of disease progression, which in turn can be used as outcome measures in clinical trials. Serving the ultimate goal of providing better treatments to patients with MND.