Abstract
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.
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.
- Content Type Journal Article
- Category Original Article
- Pages 1-11
- DOI 10.1007/s10882-011-9263-z
- Authors
- M. Galli, Bioengineering Department, Politecnico di Milano, P.zza Leonardo Da Vinci 32, 20133 Milan, Italy
- D. Ferrario, New York State Institute for Basic Research in Developmental Disabilities, New York, USA
- P. Patti, New York State Institute for Basic Research in Developmental Disabilities, New York, USA
- R. Freedland, New York State Institute for Basic Research in Developmental Disabilities, New York, USA
- V. Cimolin, Bioengineering Department, Politecnico di Milano, P.zza Leonardo Da Vinci 32, 20133 Milan, Italy
- M. Gavin, New York State Institute for Basic Research in Developmental Disabilities, New York, USA
- M. T. Velinov, New York State Institute for Basic Research in Developmental Disabilities, New York, USA
- G. Heaney, New York State Institute for Basic Research in Developmental Disabilities, New York, USA
- W. T. Brown, New York State Institute for Basic Research in Developmental Disabilities, New York, USA
- G. Albertini, IRCCS “San Raffaele Pisana”, Tosinvest Sanità, Rome, Italy
- Journal Journal of Developmental and Physical Disabilities
- Online ISSN 1573-3580
- Print ISSN 1056-263X