Spasticity / Movement Disorders
Paul J. Louigene, DO
Resident Physician, PGY 3
University of Kentucky Department of Physical Medicine and Rehabilitation
Lexington, Kentucky, United States
Paul J. Louigene, DO
University of Kentucky Department of Physical Medicine and Rehabilitation
Lexington, Kentucky, United States
A 24-year-old male with genetically-confirmed Kufor-Rakeb syndrome (KRS) presented with acute-on-chronic deterioration manifesting as progressive bilateral lower extremity weakness, severe gait instability, and worsening dyskinesias. This rare autosomal recessive ATP13A2 mutation disorder combines juvenile-onset parkinsonism with pyramidal signs and cognitive decline, creating unique rehabilitation challenges in advanced stages.
Case Description:
The patient developed rapid functional decline over two weeks, progressing from baseline ambulation to minimal bilateral lower extremity strength. Clinical examination revealed severe dysarthria, bilateral upper extremity ballismus, and complex movement dyskinesias. Prior medications included levodopa/carbidopa 25/100mg four times daily, clonazepam 0.5mg twice daily, and pramipexole 0.25mg three times daily. Comprehensive diagnostic workup excluding reversible causes was unremarkable. A multidisciplinary rehabilitation approach was implemented targeting symptom optimization and functional preservation.
Discussions:
KRS represents one of the most challenging movement disorder conditions for physiatric management due to its rapid progression and mixed motor phenotype. Our case demonstrates the critical balance between aggressive pharmacologic intervention and rehabilitation medicine principles. Medication optimization included levodopa/ carbidopa titration, baclofen initiation for spasticity, and trihexyphenidyl addition for dystonia control. However, paradoxical worsening of dyskinesias occurred with dosage adjustments, illustrating the narrow therapeutic window in advanced KRS. Comprehensive rehabilitation addressing mobility, swallowing safety, contracture prevention, and family education became paramount as pharmacologic options were exhausted.
Conclusions:
This case exemplifies the essential role of physiatric intervention in rare neurodegenerative conditions where curative treatments are unavailable. KRS management requires early rehabilitation medicine involvement to maximize functional preservation during periods of rapid decline. The case underscores the importance of individualized, multidisciplinary care planning and highlights rehabilitation medicine's unique contribution to complex movement disorder management. Future research should focus on rehabilitation protocols specifically designed for rapidly progressive juvenile parkinsonism variants.
