Hereditary Spastic Paraparesis (HSP)
What is hereditary spastic paraparesis?
Hereditary spastic paraparesis may also be referred to as familial spastic paraplegia, FSP, HSP, hereditary spastic paraparaplegia, familial spastic paraparesis, spastic spinal familial paraplegia, Strumpell disease, Strumpell-Lorrain familial spasmodic paraplegia, Strumpell-Lorrain syndrome, Strumpell’s familial paraplegia.
Hereditary spastic paraparesis (HSP), represents a large grouping of degenerative, neurological disorders, passed by heredity, which primarily affect the motor neurons and functions. There are around 80 different genetic variations of HSP. The primary symptom connecting all variations is weakness and tightening of lower body muscles ultimately leading to difficulty walking.
What are the symptoms of hereditary spastic paraparesis?
Most commonly, HSP presents as weakness and stiffening of the legs. Symptoms most typically develop between the ages of 11 and 40.
Additional symptoms may include:
- urinary urgency and frequency
- hyperactive reflexes
- Babinski’s reflex
- difficulty with balance
- cognitive impairment
- peripheral neuropathy
- impaired vision
What causes hereditary spastic paraparesis?
Each of the nearly 80 varieties of HSP is caused by a genetic mutation. The specific mutation of a specific gene determines the type of HSP expressed. Thus far, HSP has been observed to pass through autosomal dominant, autosomal recessive, and x-linked recessive patterns.
How is hereditary spastic paraparesis diagnosed?
HSP is diagnosed through the observation of clinical symptoms, the examination of family history, exclusion of other disease displaying spasticity of the legs, conducting a neurological examination, and through genetic testing.
What are the treatments for hereditary spastic paraparesis?
Though research is continuing to develop new methods for treatment, none currently exist to cure HSP. Treatment of symptoms may include exercise and physical therapy, muscle relaxants, and orthotic support.
Where can I find out more about hereditary spastic paraparesis (HSP)?