Hereditary Spastic Paraplegia

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Introduction

Hereditary spastic paraplegia is a group of inherited neurodegenerative disorders characterized by spasticity and weakness in the lower extremities . HSP may develop at any time throughout the lifespan. Generally speaking, if the disorder is developed in early childhood, the symptoms will be non-progressive, whereas the opposite holds true if developed later in life. HSP is classified as either uncomplicated (pure) or complicated. Uncomplicated HSP, as the name suggests, means the individual presents with symptoms most typically associated with HSP, including lower extremity spasticity and weakness, hypertonic urinary disturbance, and mild deficits in lower extremity vibration sense . Furthermore, uncomplicated HSP does not involved other deficits related to the upper extremities, speech, or swallowing. Complicated HSP is distinguished by the presence of uncomplicated symptoms, in addition to many other symptoms, including ataxia, seizures, intellectual disability, dementia, amyoatrophy, extrapyramidal disturbance, and peripheral neuropathy . Causes of additional symptoms are yet to be accurately identified .

It was in 1880 where the first reported cases of HSP occured. HSP was seen in two middle aged siblings from the Estonia region by a neurologist named Ernst Adolf Gustav Gottfried von Strümpell Later that decade Maurice Lorrain, would publish a more detailed account of HSP. As a result of Strümpell’s and Lorrain’s early research HSP is also referred to today as Strümpell- Lorrain disease . HSP has also been referred to as familial spastic paraparesis .

Clinically Relevant Anatomy

HSP is characterized by severe degeneration of the corticospinal tract, and a usually less severe degeneration of the posterior column lemniscus pathway . These degenerative effects account for the clinical presentation of HSP patients, including lower limb spasticity, followed by generally less severe weakness and decreased vibration sense . There may also be a marked reduction in the area and axonal density of both the corticospinal and posterior column pathways .

Clinical Presentation

Individuals with HSP will have progressive spasticity of the lower limbs along with the gradual development of improper gait patterns . A typical gait pattern of an individual with HSP involves walking on the tip of the toes with the ankles inverted (Rubin, N.D.). Individuals will also exhibit a reduced step length, increased step width, and reduced range of motion in the knee with increased range of motion in the trunk in all planes . Weakness is most common to occur in the lower limbs, but there can also be mild upper limb weakness. It is also common to have hyperreflexia of the upper limbs along with a lack of coordination. Issues with urinary incontinence are also common with up to 50 percent of individuals diagnosed with HSP exhibiting urinary systems . A positive Babinski sign can be elicited in some individuals, but the occurrence is not common. In terms of sensation, individuals with HSP may exhibit decreased, pallesthesia and proprioception . It is also likely that an individual with HSP will exhibit the physical feature of a high foot arch . Intellectual disabilities, dementia, vision loss, and hearing deficits can also occur, but are not common feature of the disease .

Outcome Measures

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