Spastic paraplegia type 31
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Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterised by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells that trigger muscle movement (motor neurons). Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types also involve the upper limbs and other areas of the body, including the brain. Spastic paraplegia type 31 is usually a pure hereditary spastic paraplegia, although a few complicated cases have been reported.
Beskrivning
Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterised by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells that trigger muscle movement (motor neurons). Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types also involve the upper limbs and other areas of the body, including the brain. Spastic paraplegia type 31 is usually a pure hereditary spastic paraplegia, although a few complicated cases have been reported.
The first signs and symptoms of spastic paraplegia type 31 usually appear before age 20 or after age 30. An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet (pes cavus). As the condition progresses, some individuals require walking support.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Autosomal dominant spastic paraplegia 31
Spastic paraplegia 31
SPG31
Related patient information and medicines
Patient information leaflet
Cerebral pares
Cerebral palsy is a problem with muscle function. It is caused by brain injury or abnormal development of the brain that occurs while a child's brain is still developing. A main aim of treatment for spastic cerebral palsy is to keep to a minimum the effects of the muscle stiffness. Spastic cerebral palsy symptoms This type of cerebral palsy occurs.
Patient information leaflet
Nervskada efter epiduralinjektion
Nerve damage is a rare complication of spinal or epidural injection. In the majority of cases, a single nerve is affected, giving a numb area on the skin or limited muscle weakness. What is an epidural injection. An epidural injection is given into the space that surrounds your spinal cord (called the epidural space). A spinal injection is given.
Patient information leaflet
Epidural smärtlindring efter operation
The content of this leaflet is used with the permission of the Royal College of Anaesthetists , the professional body responsible for the speciality throughout the UK, ensuring the quality of patient care through the maintenance of standards in anaesthesia, critical care and pain medicine. What is an epidural. An epidural is used for giving pain.
Patient information leaflet
Find out if you are eligible for a free NHS flu vaccination
Open the flu jab Is the influensa vaccine free for you this winter. The influensa vaccine is free on the NHS for people most likely to get seriously ill from flu, and for those who could easily pass it on to someone at risk. Whether you qualify depends on your age, your health, and a few other things such as being pregnant or caring for someone. The groups.
Patient information leaflet
Muskeldystrofi
Genes are the 'control centre' of each cell in the body, including muscle cells. The genes control the chemicals (proteins) that the cell makes. Some genes control the proteins needed for muscle fibres to work properly. Genetic mutations can affect these genes, which are involved in MD. The 'faulty' gene in MD means that one of the proteins needed.
Patient information leaflet
För tidigt födda barn
Having diabetes or gestational diabetes. A genetic abnormality of the baby. The weight of your baby at birth. Your baby is considered to have: A low birth weight if they weigh less than 2500 g (5 lb) A very low birth weight if they weigh less than 1500 g (3 lb) An extremely low birth weight if they weigh less than 1000 g (2 lb) Recent research by.
Vidare läsning och referenser
- Spastic paraplegia type 31; MedlinePlus, National Library of Medicine.
- Beetz C, Schule R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schols L, de Jonghe P, Zuchner S. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5.
- Goizet C, Depienne C, Benard G, Boukhris A, Mundwiller E, Sole G, Coupry I, Pilliod J, Martin-Negrier ML, Fedirko E, Forlani S, Cazeneuve C, Hannequin D, Charles P, Feki I, Pinel JF, Ouvrard-Hernandez AM, Lyonnet S, Ollagnon-Roman E, Yaouanq J, Toutain A, Dussert C, Fontaine B, Leguern E, Lacombe D, Durr A, Rossignol R, Brice A, Stevanin G. REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat. 2011 Oct;32(10):1118-27. doi: 10.1002/humu.21542. Epub 2011 Sep 9.
- Hewamadduma C, McDermott C, Kirby J, Grierson A, Panayi M, Dalton A, Rajabally Y, Shaw P. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). Neurogenetics. 2009 Apr;10(2):105-10. doi: 10.1007/s10048-008-0163-z. Epub 2008 Nov 26.
- Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365-9. doi: 10.1086/505361. Epub 2006 May 26.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
27 Apr 2021 | Senaste versionen
1 Apr 2015 | Ursprungligen publicerad
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