Neurofibromatosis type 2
Ultimo aggiornamento 9 Dic 2022
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Neurofibromatosis type 2 is a disorder characterised by the growth of noncancerous tumours in the nervous system. The most common tumours associated with neurofibromatosis type 2 are called vestibular schwannomas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumours that form on the membrane that covers the brain and spinal cord (meninges) are also common in neurofibromatosis type 2. These tumours are called meningiomas. Tumours can also occur on other nerves or tissues in the brain or spinal cord in people with this condition.
Descrizione
Neurofibromatosis type 2 is a disorder characterised by the growth of noncancerous tumours in the nervous system. The most common tumours associated with neurofibromatosis type 2 are called vestibular schwannomas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumours that form on the membrane that covers the brain and spinal cord (meninges) are also common in neurofibromatosis type 2. These tumours are called meningiomas. Tumours can also occur on other nerves or tissues in the brain or spinal cord in people with this condition.
The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. Less commonly, vestibular schwannomas cause facial weakness or paralysis. In most cases, these tumours occur in both ears (bilaterally) by age 30. If tumours develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumour growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.
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
BANF
Bilateral acoustic neurofibromatosis
Central neurofibromatosis
Familial acoustic neuromas
Neurofibromatosis 2
Neurofibromatosis type 2 merlin
Neurofibromatosis type II
NF2
Schwannoma, acoustic, bilateral
Related patient information and medicines
Patient information leaflet
Neuroma acustico
An acoustic neuroma is a rare non-cancerous tumour in the brain. Acoustic neuroma causes The cause of most acoustic neuromas is unknown. In fewer than 1 in 10 people, an acoustic neuroma is caused by neurofibromatosis type 2 (NF2). NF2 is a very rare genetic disorder that causes non-cancerous (benign) tumours of the nervous system. It affects.
Patient information leaflet
Pianificare una gravidanza
You should have access to details about who you ... Hereditary conditions People with a history of a condition that runs in families may wish to have genetic testing before planning a pregnancy. This will help assess the chances of having that condition. Examples of conditions which may run in families include: Huntington's disease..
Patient information leaflet
Tumori cerebrali
This leaflet aims to give a brief overview of the various types of brain tumours. The treatment and survival rates vary greatly, depending on factors such as the type of tumour and the location in the brain. For example, people with the hereditary diseases called neurofibromatosis type 1, Turcot's syndrome, Li-Fraumeni cancer syndrome, and.
Patient information leaflet
Rabdomiosarcoma
A rhabdomiosarcoma è a type of soft tissue sarcoma. Rhabdomyosarcomas grow in the muscles of the body. ... The exact causes of rhabdomyosarcomas are unknown. Rhabdomyosarcomas are slightly more common in children with certain genetic disorders such as neurofibromatosi oppure Li-Fraumeni syndrome. Soft tissue sarcomas may occur in an area that has.
Patient information leaflet
Scoliosi e cifosi
Scoliosis is a back condition that causes the (back) spine to curve to the side - either left or right. Most cases develop in children between the ages of 9 and 14 years during the growth spurt of puberty. This means the curve is caused by a condition which affects muscles or nerves of the back. For example, it may happen in some people with.
Patient information leaflet
Epilessia
A seizure is a short episode of symptoms caused by a burst di abnormal electrical activity in the brain. Typically, a seizure lasts from a few seconds to a few minutes. Ex... Fragile X syndrome. Rett syndrome. Neurofibromatosi. Dravet syndrome. Structural epilepsy Structural epilepsy is caused by damage or changes in the brain's structure, which.
Ulteriori letture e riferimenti
- Neurofibromatosis type 2; MedlinePlus, National Library of Medicine.
- Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR. Neurofibromatosis type 2. Lancet. 2009 Jun 6;373(9679):1974-86. doi: 10.1016/S0140-6736(09)60259-2. Epub 2009 May 22.
- Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010 Feb;152A(2):327-32. doi: 10.1002/ajmg.a.33139.
- Evans DG. Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis. 2009 Jun 19;4:16. doi: 10.1186/1750-1172-4-16.
- Evans DG. NF2-Related Schwannomatosis. 1998 Oct 14 [updated 2023 Apr 20]. 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/NBK1201/
- Evans GR, Lloyd SKW, Ramsden RT. Neurofibromatosis type 2. Adv Otorhinolaryngol. 2011;70:91-98. doi: 10.1159/000322482. Epub 2011 Feb 24.
- Hoa M, Slattery WH 3rd. Neurofibromatosis 2. Otolaryngol Clin North Am. 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005.
- Ruggieri M, Iannetti P, Polizzi A, La Mantia I, Spalice A, Giliberto O, Platania N, Gabriele AL, Albanese V, Pavone L. Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics. 2005 Feb;36(1):21-34. doi: 10.1055/s-2005-837581.
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.