Hereditary Spastic Paraplegia: Difference between revisions
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== Introduction == | == Introduction == | ||
Hereditary spastic paraplegia is a group of inherited neurodegenerative disorders characterized by spasticity and weakness in the lower extremities <ref name=":0">Ingrid F, Eduardo RP, Alberto M, Marcondes FJ, Helio AGT. Hereditary spastic paraplegia from 1880 to 2017: an historical review. Arq Neuropsiquiatr 2017;75(11):813-818. [http://dx.doi.org/10.1590/0004-282x20170160 doi.org/10.1590/0004-282x20170160] | |||
</ref>. HSP may develop at any time throughout the lifespan. Generally speaking, if the disorder is developed in early childhood, the symptoms will be non-progressive, whereas the opposite holds true if developed later in life. HSP is classified as either uncomplicated (pure) or complicated. Uncomplicated HSP, as the name suggests, means the individual presents with symptoms most typically associated with HSP, including lower extremity spasticity and weakness, hypertonic urinary disturbance, and mild deficits in lower extremity vibration sense <ref name=":1">Fink JK. Hereditary spastic paraplegia. Current Neurology and Neuroscience Reports 2006; 6(1):65-76. [https://link.springer.com/article/10.1007%2Fs11910-996-0011-1 ISSN 1528-4042] | |||
</ref>. Furthermore, uncomplicated HSP does not involved other deficits related to the upper extremities, speech, or swallowing<ref name=":1" />. Complicated HSP is distinguished by the presence of uncomplicated symptoms, in addition to many other symptoms, including ataxia, seizures, intellectual disability, dementia, amyoatrophy, extrapyramidal disturbance, and peripheral neuropathy <ref name=":1" />. Causes of additional symptoms are yet to be accurately identified <ref name=":1" />. | |||
It was in 1880 where the first reported cases of HSP occured. HSP was seen in two middle aged siblings from the Estonia region by a neurologist named Ernst Adolf Gustav Gottfried von Strümpell <ref name=":0" /> Later that decade Maurice Lorrain, would publish a more detailed account of HSP. As a result of Strümpell’s and Lorrain’s early research HSP is also referred to today as Strümpell- Lorrain disease <ref>Engmann B, Wagner A, Steinberg H. Adolf von strümpell: A key yet neglected protagonist of neurology. Journal of Neurology 2012; 259(10):2211-2220. [https://link.springer.com/content/pdf/10.1007%2Fs00415-012-6486-6.pdf DOI 10.1007/s00415-012-6486-6]</ref>. HSP has also been referred to as familial spastic paraparesis <ref>Depienne C, Stevanin G, Brice A, Durr A. Hereditary spastic paraplegias: an update. Current Opinion in Neurology 2007; 20(6):674-680. [http://dw2zn6fm9z.search.serialssolutions.com/?ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Hereditary+spastic+paraplegias%3A+an+update&rft.jtitle=CURRENT+OPINION+IN+NEUROLOGY&rft.au=Depienne%2C+C&rft.au=Stevanin%2C+G&rft.au=Brice%2C+A&rft.au=Durr%2C+A&rft.date=2007-12-01&rft.pub=LIPPINCOTT+WILLIAMS+%26+WILKINS&rft.issn=1350-7540&rft.eissn=1473-6551&rft.volume=20&rft.issue=6&rft.spage=674&rft.epage=680&rft.externalDBID=n%2Fa&rft.externalDocID=000251209300012¶mdict=en-US DOI: 10.1097/WCO.0b013e3282f190ba]</ref>. | |||
== Clinically Relevant Anatomy<br> == | == Clinically Relevant Anatomy<br> == | ||
== Clinical Presentation == | == Clinical Presentation == | ||
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== Mechanism of Injury / Pathological Process<br> == | == Mechanism of Injury / Pathological Process<br> == | ||
<br> | |||
== Clinical Presentation == | == Clinical Presentation == | ||
== Epidemiology == | == Epidemiology == | ||
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== Diagnosis == | == Diagnosis == | ||
== Prognosis == | == Prognosis == | ||
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add links to outcome measures here (see [[Outcome Measures|Outcome Measures Database]])<br> | add links to outcome measures here (see [[Outcome Measures|Outcome Measures Database]])<br> | ||
== Resources <br> == | == Resources <br> == | ||
== References == | == References == | ||
<references /> | <references /> | ||
Revision as of 00:18, 2 May 2018
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Introduction[edit | edit source]
Hereditary spastic paraplegia is a group of inherited neurodegenerative disorders characterized by spasticity and weakness in the lower extremities [1]. HSP may develop at any time throughout the lifespan. Generally speaking, if the disorder is developed in early childhood, the symptoms will be non-progressive, whereas the opposite holds true if developed later in life. HSP is classified as either uncomplicated (pure) or complicated. Uncomplicated HSP, as the name suggests, means the individual presents with symptoms most typically associated with HSP, including lower extremity spasticity and weakness, hypertonic urinary disturbance, and mild deficits in lower extremity vibration sense [2]. Furthermore, uncomplicated HSP does not involved other deficits related to the upper extremities, speech, or swallowing[2]. Complicated HSP is distinguished by the presence of uncomplicated symptoms, in addition to many other symptoms, including ataxia, seizures, intellectual disability, dementia, amyoatrophy, extrapyramidal disturbance, and peripheral neuropathy [2]. Causes of additional symptoms are yet to be accurately identified [2].
It was in 1880 where the first reported cases of HSP occured. HSP was seen in two middle aged siblings from the Estonia region by a neurologist named Ernst Adolf Gustav Gottfried von Strümpell [1] Later that decade Maurice Lorrain, would publish a more detailed account of HSP. As a result of Strümpell’s and Lorrain’s early research HSP is also referred to today as Strümpell- Lorrain disease [3]. HSP has also been referred to as familial spastic paraparesis [4].
Clinically Relevant Anatomy
[edit | edit source]
Clinical Presentation[edit | edit source]
Mechanism of Injury / Pathological Process
[edit | edit source]
Clinical Presentation[edit | edit source]
Epidemiology[edit | edit source]
Etiology[edit | edit source]
Diagnosis[edit | edit source]
Prognosis[edit | edit source]
Medical Management[edit | edit source]
Physiotherapy Management[edit | edit source]
Outcome Measures[edit | edit source]
add links to outcome measures here (see Outcome Measures Database)
Resources
[edit | edit source]
References[edit | edit source]
- ↑ 1.0 1.1 Ingrid F, Eduardo RP, Alberto M, Marcondes FJ, Helio AGT. Hereditary spastic paraplegia from 1880 to 2017: an historical review. Arq Neuropsiquiatr 2017;75(11):813-818. doi.org/10.1590/0004-282x20170160
- ↑ 2.0 2.1 2.2 2.3 Fink JK. Hereditary spastic paraplegia. Current Neurology and Neuroscience Reports 2006; 6(1):65-76. ISSN 1528-4042
- ↑ Engmann B, Wagner A, Steinberg H. Adolf von strümpell: A key yet neglected protagonist of neurology. Journal of Neurology 2012; 259(10):2211-2220. DOI 10.1007/s00415-012-6486-6
- ↑ Depienne C, Stevanin G, Brice A, Durr A. Hereditary spastic paraplegias: an update. Current Opinion in Neurology 2007; 20(6):674-680. DOI: 10.1097/WCO.0b013e3282f190ba
