8 Chapter 1 General introduction Everyone occasionally stumbles, trips or falls. But what if this starts to occur more frequently? If you start stumbling at work when going for a cup of coffee? Or if you feel as if you trip and fall over the slightest irregularity in the pavement, or it becomes challenging to engage in a conversation while walking. You experience leg stiffness that is becoming more noticeable and fatiguing over time. Even though you value social interactions, at times you decide to skip sports activities, birthdays, and stay inside while groceries and packages are being delivered. Nevertheless, the leg stiffness intensifies, and colleagues start making comments, asking whether you might have an injury, because it looks like you have some trouble walking. In an attempt to describe what you feel, you use the example of walking with a ‘potato bag’ over your legs. You feel as if you are clumsily waddling around with a heavy bag filled with potatoes, slow, off-balance, and bothersome every step you make. Several members of your family (have) experience(d) similar problems, but nobody has yet sought medical care. When consulting a general practitioner, you are referred to a neurologist. After several investigations, it turns out that the leg stiffness you experience is called ‘spasticity’, caused by a condition called ‘hereditary spastic paraplegia’. You are referred to a rehabilitation physician who explains that the leg problems are slowly progressive, but that it is difficult to predict the rate of progression. You learn that spasticity, including muscle stiffness, muscle cramps and restless legs, can be alleviated with medication and exercises, but that additional muscle weakness and loss of deep sensibility will progressively hamper your balance and gait capacity. Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia (HSP) refers to a genetic and clinical heterogenous group of movement disorders.3,4 From a clinical perspective, HSP can be classified into pure or complex forms.5 Pure forms of HSP generally present with progressive bilateral spasticity, muscle weakness, and loss of proprioception of the lower extremities.3 In addition, urinary dysfunctions like incontinence or hesitance are common.6-8 In complex forms of HSP, additional neurological deficits may be present, such as ataxia, cognitive impairments, seizures, peripheral neuropathy, or upper extremity involvement.3 The prevalence of HSP is estimated to be about 2-10 of 100.000 individuals in the general population.9 The first signs and symptoms are often subtle with the development of leg stiffness, which may present at any age between infancy until late adulthood. Insight in the individual prognosis is limited, but disease progression is generally slow.10,11 Yet, a later onset has been associated with a faster disease progression.10-12
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