What is familial spastic paraplegia?
Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time. It’s also known as familial spastic paraparesis or Strümpell-Lorrain syndrome.
How to test for Hereditary Spastic Paraplegia?
Genetic testing: Testing for HSP genes is available and performed for individual HSP genes, for panels containing dozens of HSP genes, and by analysis of all genes (whole exome and whole genome analysis). Genetic testing is often helpful to confirm the clinical diagnosis of HSP.
Is HSP inherited?
However, while genes may increase the risk of developing the disease (and in some cases more than one family member has HSP), the disease itself is not inherited .
How does hereditary spastic paraplegia?
In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. As degeneration continues, symptoms worsen.
Is spastic paraplegia a disability?
HSP refers to a group of inherited neurologic disorders that cause progressive weakness and spasticity, or stiffness, in the lower extremities, mostly the leg and hip muscles. The long-term prognosis for people diagnosed with HSP varies: Some become very disabled, while others experience only mild disability.
Is spastic paraplegia a motor neuron disease?
Hereditary motor neuron diseases affect the nerves that control voluntary muscle activity, which includes diseases such as amyotrophic lateral sclerosis (ALS), hereditary spastic paraplegia (HSP), and spinal muscular atrophy (SMA).
Is HSP autoimmune?
HSP is an autoimmune disease that is often triggered by an upper respiratory infection. Symptoms include a rash caused by bleeding under the skin, arthritis, belly pain, and kidney disease. Most children recover fully.
Can spastic paraplegia be cured?
Currently, no specific treatment exists to prevent, retard, or reverse progressive disability in patients with hereditary spastic paraplegia (HSP). Nonetheless, treatment approaches used for chronic paraplegia from other causes are useful.
What’s the difference between ALS and PLS?
How does PLS differ from ALS? PLS affects the upper motor neurons alone, while ALS affects the upper and lower motor neurons. The nerve cell bod- ies of the upper motor neurons reside in the brain, where they control the activity of the lower motor neurons, which reside in the spinal cord.
Can HSP turn into ALS?
A genetic overlap has been previously described for various MNDs: recessive mutations in ALS2 and SPG11 have been identified in patients with HSP or slowly progressive juvenile-onset ALS.