The use of 3d motion analysis in a patient with an atypical juvenile neuronal ceroid lipofuscinoses phenotype with CLN1 mutation and deficient ppt activity

The aim of this case study was to record and highlight the functional decline in a 23 year old man diagnosed with atypical juvenile neuronal ceroid lipofuscinoses/Batten Disease [AJNCL] with a ceroid lipofuscinoses-neuronal associated gene mutation (CLN1). The patient was monitored during three different sessions over a 3 year period using a three-dimensional (3D) motion analysis system. The results revealed a significant decline in the patient's motor functions over time with a gait pattern progressively more impaired from the physiologic pattern. From the recorded data, the changes in the patient's gait as a function of the disease progression was able to be objectively measured. The findings are important since a biomechanical evaluation using 3D motion analysis may offer more defined treatment approaches in the physical therapy program of patients with Batten disease.