Image source: here.
Another great result from the joint work of the LAM (Motion Analysis Laboratory) and the Neurology Unit of the USL-IRCCS of Reggio Emilia.
New paper published
The team published a case report about a patient with progressive gait impairment. The woman had previously been diagnosed with hereditary spastic paraparesis, with her mother also affected. However, treatments had not proven effective.
Neurological evaluation revealed cervical and upper limb dystonic tremor, mild spastic gait with hyperreflexia in the lower limbs, and dystonia of the left foot. The LAM contributed by performing an instrumental gait assessment, which showed mild weakness and stiffness in the muscles of the lower limbs.
Genetic sequencing identified a gene variant that mimicked paraparesis, leading to a diagnosis of dopa-responsive dystonia. Gradually introducing low doses of levodopa proved sufficient to produce immediate and clinically meaningful benefits, enhancing the patient’s functional abilities and quality of life.
The full text is available here.
Team effort
Collaboration with the Neurology unit, especially with Dr. Cavallieri and his team, is producing significant publications on rare diseases, helping improve diagnosis and treatment for patients.
You can read about it in other posts.
