loading...| Preferred Name |
Hereditary spastic paraplegia |
| ID |
http://www.orpha.net/ORDO/Orphanet_685 |
| alternative_term |
Strümpell-Lorrain disease Familial spastic paraplegia HSP Hereditary spastic paraparesis SPG |
| definition |
A genetically and clinically heterogeneous group of slowly progressive neurological disorders which in the pure form is characterized by pyramidal signs (weakness, spasticity, brisk tendon reflexes, and extensor plantar responses) predominantly affecting the lower limbs and with possible association of sphincter disturbances and deep sensory loss; and in the complex form by the addition of variable neurological or non-neurological features. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685 |
| has_age_of_onset |
All ages |
| has_inheritance |
X-linked recessive Autosomal recessive Autosomal dominant |
| hasDbXref |
ICD-10:G11.4 MedDRA:10019903 ICD-11:8B44.0 UMLS:C0037773 |
| label |
Hereditary spastic paraplegia |
| notation |
ORPHA:685 Clinical group |
| prefixIRI |
ORDO:Orphanet_685 |
| prefLabel |
Hereditary spastic paraplegia |
| present_in |
Tunisia AND has_point_prevalence_average_value : 5.75 AND has_point_prevalence_range : 1-9 / 100 000 Estonia AND has_point_prevalence_average_value : 4.4 AND has_point_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_average_value : 2.7 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 4.8 AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_point_prevalence_average_value : 1.3 AND has_point_prevalence_range : 1-9 / 100 000 Portugal AND has_point_prevalence_average_value : 4.1 AND has_point_prevalence_range : 1-9 / 100 000 Norway AND has_point_prevalence_average_value : 7.4 AND has_point_prevalence_range : 1-9 / 100 000 Spain AND has_point_prevalence_average_value : 9.6 AND has_point_prevalence_range : 1-9 / 100 000 Libyan Arab Jamahiriya AND has_point_prevalence_average_value : 2.1 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_average_value : 4.2 AND has_point_prevalence_range : 1-9 / 100 000 |
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_183500 |