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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary spastic paraplegia


Other Names for this Disease
  • HSP
  • Familial spastic paraparesis
  • FSP
Related Diseases
  • Hereditary spastic paraplegia - autosomal dominant inheritance
  • Hereditary spastic paraplegia - autosomal recessive inheritance
  • Hereditary spastic paraplegia – maternal inheritance
  • Hereditary spastic paraplegia - X-linked inheritance
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Hereditary spastic paraplegia?

The hallmark feature of hereditary spastic paraplegia is progressive weakness and spasticity (stiffness) of the legs.[1][2] Symptoms typically develop bertween the second and fourth decades (although earlier and later presentation has been described).[1] Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually, individuals with HSP may require the assistance of a cane, walker, or wheelchair. In some cases, additional symptoms may occur. These can include:[1][2]
Last updated: 4/24/2016

The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary spastic paraplegia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Gait disturbance 90%
Hemiplegia/hemiparesis 90%
Hypertonia 90%
Impaired pain sensation 90%
Incoordination 50%
Finger syndactyly 7.5%

Last updated: 5/1/2016

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. About HSP (Hereditary Spastic Paraplegia). Spastic Paraplegia Foundation, Inc.. 2016; http://sp-foundation.org/understanding-pls-hsp/hsp.html.
  2. NINDS Hereditary Spastic Paraplegia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). February 10, 2014; http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm.


Other Names for this Disease
  • HSP
  • Familial spastic paraparesis
  • FSP
Related Diseases
  • Hereditary spastic paraplegia - autosomal dominant inheritance
  • Hereditary spastic paraplegia - autosomal recessive inheritance
  • Hereditary spastic paraplegia – maternal inheritance
  • Hereditary spastic paraplegia - X-linked inheritance
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.