Content » Vol 49, Issue 5

Review article

Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia

Jorik Nonnekes, Bas van Lith, Bart P. van de Warrenburg, Vivian Weerdesteyn, Alexander C.H. Geurts
Department of Rehabilitation, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, 6541GX Nijmegen, The Netherlands. E-mail: jorik.nonnekes@radboudumc.nl
DOI: 10.2340/16501977-2227

Abstract

Introduction: Balance impairments are common in patients with hereditary spastic paraplegia and are among the most debilitating symptoms, as they frequently result in falls and fall-related injuries. Several features of hereditary spastic paraplegia contribute to balance impairments and multiple treatment options exist. However, an overview of these underlying mechanisms and their treatment is currently lacking.
Methods: This paper reviews the pathophysiology, diagnostic workup, and management of balance impairments in hereditary spastic paraplegia. Recommendations are based on scientific evidence, when available, and otherwise reflect practice-based evidence supported by clinical experience.
Conclusion: Through diligent history-taking and clinical examination, followed by multidisciplinary treatment tailored to the identified underlying mechanisms, balance capacities can be improved in patients with hereditary spastic paraplegia and at least a proportion of falls can be prevented.

Lay Abstract

Treatment of balance impairments and falls in people with hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is an inherited disorder. People with HSP experience spasticity, muscle weakness, and a reduced vibration sensation in their legs. Moreover, they have balance impairments and fall frequently, which can result in injuries. In our article, we explain which factors contribute to frequent falls in people with HSP. Moreover, we explain how a clinical doctor can identify people with HSP who are prone to falling, and which treatment options exist to minimize falls.

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