Hereditary Spastic Paraplegia (FSP) malady
Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Gastrointestinal diseases, Bone diseases categories
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8Disease Ontology, 42NIH Rare Diseases, 43NINDS, 65Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NINDS:43 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. These symptoms typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, or wheelchair. Though the primary features of "pure" HSP are progressive lower limb spasticity and weakness, complicated forms may be accompanied by other symptoms. These additional impaired vision due to cataracts and problems with the optic nerve and retina of the eye, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders. Brain MRI abnormalities, such as a thin corpus callosum, may be seen in some of the complicated forms of HSP.
MalaCards based summary: Hereditary Spastic Paraplegia, also known as familial spastic paraplegia, is related to spastic paraplegia 3a and paraplegia, and has symptoms including An important gene associated with Hereditary Spastic Paraplegia is KIAA0196 (KIAA0196). Affiliated tissues include brain, spinal cord and eye, and related mouse phenotype behavior/neurological.
Disease Ontology:8 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
NIH Rare Diseases:42 Hereditary spastic paraplegia is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons.Â upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons which in turn, carry messages to the muscles.Â 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 leading to difficulty walking. Â as degeneration continues, symptoms worsen.Â last updated: 1/31/2013
Wikipedia:65 Hereditary Spastic Paraplegia (HSP), also known as Hereditary Spastic Paraparesis, Familial Spastic... more...
Descriptions from OMIM:46 612539, 312920, 270685, 605280, 270800 600363, 182600, 613206, 607259, 604187, 612020, 270700, 604360, 610244, 613647, 610250, 603563, 275900, 182601 more
GeneReviews summary for hsp
Hereditary Spastic Paraplegia, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Mental diseases, Gastrointestinal diseases, Bone diseases
Clinical features from OMIM:612539, 312920, 270685, 605280, 270800, 600363, 182600, 613206, 607259, 604187 612020, 270700, 604360, 610244, 613647, 610250, 603563, 275900, 182601 more
HPO human phenotypes related to Hereditary Spastic Paraplegia:(show all 6)
MalaCards organs/tissues related to Hereditary Spastic Paraplegia:32
Brain, Spinal cord, Eye, Retina, Testes, Cerebellum
Articles related to Hereditary Spastic Paraplegia:(show top 50) (show all 427)
Search GEO for disease gene expression data for Hereditary Spastic Paraplegia.
Cellular components related to Hereditary Spastic Paraplegia according to GeneCards/GeneDecks:
Biological processes related to Hereditary Spastic Paraplegia according to GeneCards/GeneDecks:
Molecular functions related to Hereditary Spastic Paraplegia according to GeneCards/GeneDecks:
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet