PURA syndrome
Ultimo aggiornamento 2 Ottobre 2024
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
PURA syndrome is a condition characterised by intellectual disability and delayed development of speech and motor skills, such as walking. Expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech), and most affected individuals are unable to speak. People with PURA syndrome may learn to walk later than their peers; many are never able to walk. In infancy, affected infants have very weak muscle tone (hypotonia) and feeding difficulties. Problems with swallowing (dysphagia) can last throughout life. In addition, affected infants can be excessively sleepy (hypersomnolent), have a low body temperature (hypothermia), and have short pauses in breathing (apnea) or episodes of abnormally slow breathing (hypoventilation). These breathing problems usually go away after age 1.
Descrizione
PURA syndrome is a condition characterised by intellectual disability and delayed development of speech and motor skills, such as walking. Expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech), and most affected individuals are unable to speak. People with PURA syndrome may learn to walk later than their peers; many are never able to walk. In infancy, affected infants have very weak muscle tone (hypotonia) and feeding difficulties. Problems with swallowing (dysphagia) can last throughout life. In addition, affected infants can be excessively sleepy (hypersomnolent), have a low body temperature (hypothermia), and have short pauses in breathing (apnea) or episodes of abnormally slow breathing (hypoventilation). These breathing problems usually go away after age 1.
Recurrent seizures (epilepsy) are also common in PURA syndrome. Seizures usually begin before age 5 with uncontrolled muscle jerks (myoclonus). Other types of seizures can develop, such as generalized tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. In people with PURA syndrome, seizures are often difficult to control.
Other features in people with PURA syndrome can include abnormalities of the heart, eyes, urogenital tract, gastrointestinal tract, and skeleton. Some affected individuals have symptoms of a hormonal problem, such as early sexual development (precocious puberty) or low levels of vitamin D (which is a hormone).
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
PURA-related neurodevelopmental disorder
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Related patient information and medicines
Patient information leaflet
Sindrome da cattura precordiale
Sebbene precordial catch syndrome is a harmless cause of chest pain, there are many other causes of chest pain, some of which are serious and need urgent medical attention. What is precordial catch syndrome. Precordial catch syndrome (PCS) is condition which causes a sharp stabbing pain in the chest. These typically get worse with breathing in,.
Patient information leaflet
Pre-eclampsia
Rarely, pre-eclampsia and eclampsia can both develop for the first time up to four weeks after you ho given birth. This means that should look out for any of the symptoms above after you give birth and report them to your doctor or midwife. This is called post natal pre-eclampsia. HELLP syndrome HELLP syndrome is a complication which occurs in.
Patient information leaflet
Sindrome da refeeding
Sindrome da refeeding was first described in Far East prisoners after the second world war when they developed insufficienza cardiaca after starting to eat again after a prolonged period of starvation. Sindrome da refeeding è a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur quando malnourished patients receive.
Patient information leaflet
Sindrome dell'ovaio policistico
Sindrome dell'ovaio policistico (PCOS) è a metabolic condition that affects how the ovaries work. It can cause symptoms such as weight gain, excess hair growth, period problems, and can impact fertility. What is polycystic ovary syndrome (PCOS). Polycystic ovary syndrome (PCOS) is a medical condition that affects how the body regulates hormones. It can.
Patient information leaflet
Sindrome della guancia schiaffeggiata
Slapped cheek syndrome è normally a mild, short illness. However, the rash may appear to be quite dramatic. However, it can cause harm to an unborn baby so women who are pregnant a... What is slapped cheek syndrome. Slapped cheek syndrome, sometimes called fifth disease or erythema infectiosum, è an infection caused by the parvovirus B19 virus..
Patient information leaflet
Sindrome alcolica fetale
FAS is a pattern of disabilities that can develop in a bambino as it grows in the womb (uterus) because the mother drank alcohol whilst pregnant and the baby is therefore exposed to alcohol before birth. Fetal alcohol syndrome (FAS) is part of a group of conditions called fetal alcohol spectrum disorders (FASDs). These are a range of disabilities a.
Ulteriori letture e riferimenti
- PURA syndrome; MedlinePlus, National Library of Medicine.
- Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study; Magee AC, Turnpenny PD, Baralle D. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23.
- Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16.
- Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lonnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerova J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2.
- Reijnders MRF, Leventer RJ, Lee BH, Baralle D, Selber P, Paciorkowski AR, St John M, Morgan AT, Anderson M, Hildebrand MS, Sanchez LD, Hunt D. PURA-Related Neurodevelopmental Disorders. 2017 Apr 27 [updated 2026 Mar 25]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK426063/
- Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK. De novo mutations in PURA are associated with hypotonia and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356.
- White MK, Johnson EM, Khalili K. Multiple roles for Puralpha in cellular and viral regulation. Cell Cycle. 2009 Feb 1;8(3):1-7. doi: 10.4161/cc.8.3.7585. Epub 2009 Feb 10.
Storia dell'articolo
Articolo disponibile anche in Inglese, Tedesco, Spagnolo, Francese, Italiano, Portoghese, Hindi, Ebraico, Arabo, and Svedese.
2 Ottobre 2024 | Ultima versione
1 Ago 2017 | Pubblicato originariamente
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.