Hereditary spastic paraplegia: Difference between revisions
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'''Hereditary Spastic Paraplegia''' (HSP) is a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs. | {{SI}} {{Infobox medical condition | ||
| name = Hereditary spastic paraplegia | |||
| image = [[File:Overview_of_HSP_pathogenesis_on_cellular_level._Identified_affected_genes_in_each_pathway_are_depicted.jpg|250px]] | |||
| caption = Overview of HSP pathogenesis on a cellular level | |||
| synonyms = Familial spastic paraplegias, Strümpell-Lorrain syndrome | |||
| pronounce = | |||
| specialty = [[Neurology]] | |||
| symptoms = Progressive [[spasticity]] and [[weakness]] of the [[lower limbs]] | |||
| onset = Varies, often in childhood or adulthood | |||
| duration = Lifelong | |||
| types = Pure and complex forms | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[clinical examination]] | |||
| differential = [[Multiple sclerosis]], [[cerebral palsy]], [[amyotrophic lateral sclerosis]] | |||
| treatment = [[Physical therapy]], [[medications]] for spasticity | |||
| medication = [[Baclofen]], [[tizanidine]] | |||
| frequency = 1 in 10,000 to 1 in 20,000 people | |||
| deaths = Rarely directly fatal | |||
}} | |||
[[Category:Neurological disorders]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Rare diseases]]'''Hereditary Spastic Paraplegia''' (HSP) is a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs. | |||
== Symptoms == | == Symptoms == | ||
The primary symptom of HSP is progressive spasticity in the lower limbs, due to degeneration of the nerves that control muscle movement. Other symptoms can include general weakness, muscle spasms, and difficulties with balance and coordination. Some forms of HSP can also affect the upper body, causing symptoms such as numbness, tingling, or pain in the arms and hands. | The primary symptom of HSP is progressive spasticity in the lower limbs, due to degeneration of the nerves that control muscle movement. Other symptoms can include general weakness, muscle spasms, and difficulties with balance and coordination. Some forms of HSP can also affect the upper body, causing symptoms such as numbness, tingling, or pain in the arms and hands. | ||
== Causes == | == Causes == | ||
HSP is caused by mutations in various genes. The different types of HSP are classified according to the genetic cause. The most common types of HSP are caused by mutations in the SPG4, SPG3A, and SPG31 genes. | HSP is caused by mutations in various genes. The different types of HSP are classified according to the genetic cause. The most common types of HSP are caused by mutations in the SPG4, SPG3A, and SPG31 genes. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of HSP is based on the presence of characteristic clinical features and a family history of the disorder. Genetic testing can confirm the diagnosis in some cases. | Diagnosis of HSP is based on the presence of characteristic clinical features and a family history of the disorder. Genetic testing can confirm the diagnosis in some cases. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for HSP, but treatment can help to manage symptoms. This can include physical therapy, occupational therapy, and medication to manage spasticity and other symptoms. | There is currently no cure for HSP, but treatment can help to manage symptoms. This can include physical therapy, occupational therapy, and medication to manage spasticity and other symptoms. | ||
== See also == | == See also == | ||
* [[Neurology]] | * [[Neurology]] | ||
* [[Genetics]] | * [[Genetics]] | ||
* [[Physical therapy]] | * [[Physical therapy]] | ||
{{CNS diseases of the nervous system}} | {{CNS diseases of the nervous system}} | ||
{{PNS diseases of the nervous system}} | {{PNS diseases of the nervous system}} | ||
| Line 31: | Line 42: | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 03:42, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Hereditary spastic paraplegia | |
|---|---|
| |
| Synonyms | Familial spastic paraplegias, Strümpell-Lorrain syndrome |
| Pronounce | |
| Specialty | Neurology |
| Symptoms | Progressive spasticity and weakness of the lower limbs |
| Complications | N/A |
| Onset | Varies, often in childhood or adulthood |
| Duration | Lifelong |
| Types | Pure and complex forms |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Genetic testing, clinical examination |
| Differential diagnosis | Multiple sclerosis, cerebral palsy, amyotrophic lateral sclerosis |
| Prevention | N/A |
| Treatment | Physical therapy, medications for spasticity |
| Medication | Baclofen, tizanidine |
| Prognosis | N/A |
| Frequency | 1 in 10,000 to 1 in 20,000 people |
| Deaths | Rarely directly fatal |
Hereditary Spastic Paraplegia (HSP) is a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs.
Symptoms[edit]
The primary symptom of HSP is progressive spasticity in the lower limbs, due to degeneration of the nerves that control muscle movement. Other symptoms can include general weakness, muscle spasms, and difficulties with balance and coordination. Some forms of HSP can also affect the upper body, causing symptoms such as numbness, tingling, or pain in the arms and hands.
Causes[edit]
HSP is caused by mutations in various genes. The different types of HSP are classified according to the genetic cause. The most common types of HSP are caused by mutations in the SPG4, SPG3A, and SPG31 genes.
Diagnosis[edit]
Diagnosis of HSP is based on the presence of characteristic clinical features and a family history of the disorder. Genetic testing can confirm the diagnosis in some cases.
Treatment[edit]
There is currently no cure for HSP, but treatment can help to manage symptoms. This can include physical therapy, occupational therapy, and medication to manage spasticity and other symptoms.
See also[edit]
| Diseases of the nervous system, primarily CNS (G04–G47, 323–349) | ||||||||||||||||||||
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| Cerebral palsy and other syndromes | ||||||
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| Inherited disorders of trafficking / vesicular transport proteins | ||||||||||
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See also vesicular transport proteins
|
