Hereditary Spastic Paraplegias (SPG) are a group of disorders characterized by progressive spasticity of the lower extremities. There are several subtypes of SPGs, each with a distinct genetic locus responsible for the condition. SPG5A is an uncomplicated or 'pure' form of spastic paraplegia. In this form, the spasticity is limited to the lower extremities, and is accompanied with urinary bladder disturbance, and mild reduction of lower extremity vibration sensation as well as joint position sensation. Patients experience progressive difficulty in walking. However, the upper extremities of these patients remain unaffected, and they retain normal strength and dexterity. In addition, no involvement of speech, chewing, or swallowing can be noticed. SPG5A has its age of onset from anywhere between 1 and 20-years of age.
SPGs are diagnosed based on the clinical symptoms. The diagnosis can be complicated by several other disorders that share similar features. Differential diagnoses include Lou Gehrig's disease, Vitamin B12 Deficiency, and Multiple Sclerosis, among others. Although the gene responsible for SPG5A is known, genetic testing is not available at this point of time. Similarly, no specific treatment is available for SPG. Focus of treatment is at relief of symptoms and physical therapy for improving muscle strength and mobility. SPG5A is compatible with a normal life span, although it does cause debilitations. Patients often require canes, walkers, or wheelchairs.