How rare is SPG11?

How rare is SPG11?

Since SPG11 was found to account for 19%-31% of autosomal recessive HSP [Stevanin et al 2008, Kara et al, 2016], a prevalence of 1.25:100,000 for SPG11 can be estimated.

How do you 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.

What gene causes spastic paraplegia?

Mutations in the SPG11 gene cause spastic paraplegia type 11. The SPG11 gene provides instructions for making the protein spatacsin. Spatacsin is active (expressed) throughout the nervous system, although its exact function is unknown.

Can hereditary spastic paraplegia be cured?

There are no specific treatments to prevent, slow, or reverse HSP. Symptomatic treatments used for spasticity, such as muscle relaxants, are sometimes helpful. Regular physical therapy is important for muscle strength and to preserve range of motion. There are no specific treatments to prevent, slow, or reverse HSP.

Is Hereditary spastic paraplegia painful?

The pain is not directly due to HSP itself but is instead often caused by muscle weakness and gait abnormalities resulting from HSP. As certain muscles become weaker, other muscles need to compensate for that weakness. Compensatory measures create an awkward gait that causes strain on many muscles and joints.

Is Hereditary spastic paraplegia progressive?

Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness.

Can hereditary spastic paraplegia affect the arms?

People with this form of spastic paraplegia can also have ataxia; a pattern of movement abnormalities known as parkinsonism; exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal …

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.

Does spasticity get worse over time?

Keep moving. Muscle spasticity will tend to get worse the less you move. This is especially true if the muscles become weaker.

Is familial spastic paraplegia progressive?

Is Hereditary spastic paraplegia degenerative?

Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons.

Does hereditary spastic paraplegia get worse?

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.