Aetiology
Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders that cause progressive stiffness and weakness of the lower extremities. It is caused by a mutation in a gene that affects the proper function of the nerves in the spinal cord, leading to spasticity, weakness, and lack of coordination in the legs.
Diagnosis
HSP is typically diagnosed through a combination of physical examination, medical history, imaging tests, genetic testing, and possibly electrodiagnostic studies. The physical exam may reveal muscle weakness, stiffness, and spasticity of the legs or difficulty with coordination or balance. Imaging tests, such as MRI and CT scans, may be used to look for signs of spinal cord damage or changes in the brain. Genetic testing is also used to look for mutations in the genes that are known to cause HSP.
Differential diagnosis
HSP must be differentiated from other neurological disorders that can cause similar symptoms. These include multiple sclerosis, Charcot-Marie-Tooth disease, muscular dystrophy, and Friedreich’s ataxia.
Treatment
There is no cure for HSP, but its progression can be slowed with physical therapy and medications. Physical therapy can help to improve strength and coordination, while medications, such as baclofen, can help to reduce spasticity.
Prognosis
The long-term prognosis for HSP is variable and depends on the type of HSP and the severity of the symptoms. Generally, most people with HSP are able to lead relatively normal lives, although the symptoms may worsen over time.