Which clinical history findings are characteristic of hereditary spastic paraparesis (HSP)?

Updated: Apr 28, 2014
  • Author: Hidehiro Takei, MD; Chief Editor: Adekunle M Adesina, MD, PhD  more...
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In pure (uncomplicated) hereditary spastic paraparesis (HSP), the age of disease onset ranges from infancy to the eighth decade, [28] and the disease severity varies; both reflect marked interfamilial variation. The essential clinical findings are slowly progressive and often include severe spasticity, hyperreflexia, and weakness in a pyramidal distribution, noticeably in both lower limbs, with extensor plantar responses.

Most patients with HSP present with difficulty in walking or a gait disturbance. In those with childhood onset, a delay in walking is not uncommon. Upper limb involvement is usually mild. Notably, as many as 25% of affected patients are asymptomatic. [29]

Sensory impairment is seen in 10-65% of cases and usually consists of diminished vibration sense and, less often, diminished joint-position sense in the lower extremities. [29] Urinary sphincter dysfunction occurs in up to 50% of patients, whereas anal sphincter involvement is unusual. [29] Important negative clinical findings include no cranial nerve (CN) involvement and no corticobulbar tract involvement.

In complicated HSP, spasticity is accompanied by a variety of conditions that are related to central and peripheral nervous system involvement, including muscle amyotrophy, optic atrophy, pigmentary retinopathy, mental retardation, extrapyramidal disease, ataxic syndrome, dementia, deafness, ichthyosis, peripheral neuropathy, and epilepsy. [29]

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