Spastic paraplegia 6
| Spastic paraplegia 6 | |
|---|---|
| Other names | SPG6, Familial spastic paraplegia autosomal dominant 3, FSP3[1] |
| Specialty | Medical genetics |
| Symptoms | Neurological |
| Usual onset | Birth |
| Duration | Lifelong |
| Types | Pure and Complex |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Medium |
| Frequency | rare, only 73 cases have been described in medical literature |
| Deaths | - |
Spastic paraplegia 6 is a rare type of hereditary spastic paraplegia characterized by muscle tone and bladder anomalies associated with pes cavus and specific hyperreflexia.
Signs and symptoms
[edit]People with spastic paraplegia 6 generally start showing symptoms during their late teenage years or early adulthood, the symptoms are spasticity affecting the lower limbs, hyperreflexia, high-arched feet (pes cavus), and mild bladder problems.[2][3]
Less common symptoms include epilepsy, peripheral neuropathy of variable degrees, and memory problems.[3][2]
Complications
[edit]There are various complications related to the symptoms of SP6
For example, the pes cavus deformity can cause claw toes, hindfoot deformity, big toe cockup deformity, and plantar fascia contractures.[4] The spasticity can cause chronic pain, joint deformities, chronic constipation and pressure-associated sores,[5] etc.
Types
[edit]There are two subtypes of SPG6: pure and complex[6]
The pure form involves symptoms affecting the lower extremities.[6]
The complex form involves symptoms affecting both lower and upper extremities, although it affects the upper extremities to a lesser extent.[6]
Treatment
[edit]Treatment is focused on the symptoms themselves.
Causes
[edit]This condition is caused by autosomal dominant mutations in the NIPA1 gene, in chromosome 15, although the genetic cause can vary among families: this gene mutation was found in a large family from Britain.[7]
Epidemiology
[edit]According to OMIM,[8] 73 cases have been described in medical literature.[9][7][10]
References
[edit]- ^ "Spastic paraplegia 6". 16 June 2022.
- ^ a b "Spastic paraplegia 6 - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-01.
- ^ a b RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant spastic paraplegia type 6". www.orpha.net. Retrieved 2022-07-01.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Pes Cavus: Practice Essentials, Etiology, Prognosis". 2021-05-07.
{{cite journal}}: Cite journal requires|journal=(help) - ^ "Spasticity". www.hopkinsmedicine.org. 2021-08-08. Retrieved 2022-07-01.
- ^ a b c "Genetic Testing - familial spastic paraplegia type 6 (Spastic paraplegia type 6 -SPG6-) - Gen NIPA1 . - IVAMI". www.ivami.com. Retrieved 2022-07-01.
- ^ a b Reed, Johanna A.; Wilkinson, Phillip A.; Patel, Heema; Simpson, Michael A.; Chatonnet, Arnaud; Robay, Dimitri; Patton, Michael A.; Crosby, Andrew H.; Warner, Thomas T. (2005-05-01). "A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia". Neurogenetics. 6 (2): 79–84. doi:10.1007/s10048-004-0209-9. ISSN 1364-6745. PMID 15711826. S2CID 2236413.
- ^ "Entry - #600363 - Spastic paraplegia 6, autosomal dominant; SPG6 - OMIM". omim.org. Retrieved 2022-07-01.
- ^ Fink, J. K.; Sharp, G. B.; Lange, B. M.; Wu, C. B.; Haley, T.; Otterud, B.; Peacock, M.; Leppert, M. (1995-02-01). "Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family". Neurology. 45 (2): 325–331. doi:10.1212/wnl.45.2.325. ISSN 0028-3878. PMID 7854534. S2CID 33624423.
- ^ Rainier, Shirley; Chai, Jing-Hua; Tokarz, Debra; Nicholls, Robert D.; Fink, John K. (2003-10-01). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)". American Journal of Human Genetics. 73 (4): 967–971. doi:10.1086/378817. ISSN 0002-9297. PMC 1180617. PMID 14508710.