Medicine: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
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
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
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
Treatment is focused on the symptoms themselves.
Causes
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
According to OMIM,[8] 73 cases have been described in medical literature.[9][7][10]
References
- ↑ "Spastic paraplegia 6". 16 June 2022. https://rarediseases.org/gard-rare-disease/spastic-paraplegia-6/.
- ↑ 2.0 2.1 "Spastic paraplegia 6 - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/4928/spastic-paraplegia-6.
- ↑ 3.0 3.1 RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant spastic paraplegia type 6" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100988.
- ↑ Pes Cavus: Practice Essentials, Etiology, Prognosis. 2021-05-07. https://emedicine.medscape.com/article/1236538-overview#:~:text=The%20spectrum%20of%20associated%20deformities,deformity%20of%20the%20great%20toe..
- ↑ "Spasticity" (in en). 2021-08-08. https://www.hopkinsmedicine.org/health/conditions-and-diseases/spasticity.
- ↑ 6.0 6.1 6.2 "Genetic Testing - familial spastic paraplegia type 6 (Spastic paraplegia type 6 -SPG6-) - Gen NIPA1 . - IVAMI". https://www.ivami.com/en/genetic-testing-human-gene-mutations-diseases-neoplasias-and-pharmacogenetics/4763-genetic-testing-familial-spastic-paraplegia-type-6-spastic-paraplegia-type-6-spg6-gen-nipa1.
- ↑ 7.0 7.1 Reed, Johanna A.; Wilkinson, Phillip A.; Patel, Heema; Simpson, Michael A.; Chatonnet, Arnaud; Robay, Dimitri; Patton, Michael A.; Crosby, Andrew H. et al. (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. https://pubmed.ncbi.nlm.nih.gov/15711826/.
- ↑ "Entry - #600363 - Spastic paraplegia 6, autosomal dominant; SPG6 - OMIM" (in en-us). https://omim.org/entry/600363.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/7854534/.
- ↑ 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. PMID 14508710.
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