Autosomal dominant spastic paraplegia type 8

Autosomal dominant spastic paraplegia type 8 (SPG8) is a rare hereditary spastic paraplegia caused by mutations in the WASHC5 gene (also known as KIAA0196 or strumpellin), located on chromosome 8q24. It is classified as a 'pure' or 'uncomplicated' form of hereditary spastic paraplegia, meaning that the primary clinical features are largely confined to progressive spasticity and weakness of the lower limbs. The disease primarily affects the corticospinal tracts of the central nervous system, leading to gradual degeneration of the longest motor neuron axons in the spinal cord. Patients with SPG8 typically present with slowly progressive spasticity and hyperreflexia in the legs, difficulty walking, and an abnormal gait pattern. Urinary urgency or bladder dysfunction may also occur. Upper limb function is generally preserved, and cognitive abilities remain intact. The age of onset is variable but most commonly occurs in adulthood, typically between the second and fifth decades of life, though earlier onset has been reported in some families. Disease severity and rate of progression can vary considerably, even among affected members of the same family. There is currently no cure or disease-modifying therapy for SPG8. Treatment is symptomatic and supportive, focusing on physical therapy to maintain mobility and reduce spasticity, antispasticity medications such as baclofen or tizanidine, and management of bladder symptoms. Assistive devices such as ankle-foot orthoses, canes, or wheelchairs may become necessary as the disease progresses. Regular follow-up with a neurologist and a multidisciplinary rehabilitation team is recommended to optimize quality of life.

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