Du lette etter:

wolfram syndrom

Wolfram-Syndrom - eine genetische, neurodegenerative ...
https://wolfram-syndrom.de
Beim Wolfram-Syndrom handelt es sich um eine genetische, neurodegenerative Erkrankung mit unterschiedlichem Verlauf. Eine andere Bezeichnung für die Erkrankung ist DIDMOAD-Syndrom – nach den vier Hauptmerkmalen, die auftreten können: Diabetes Mellitus, Diabetes Insipidus, Optikusatrophie und Taubheit (Deafness).
Wolfram syndrome - Wikipedia
https://en.wikipedia.org/wiki/Wolfram_syndrome
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders. It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. The d…
Wolfram syndrome: MedlinePlus Genetics
https://medlineplus.gov/genetics/condition/wolfram-syndrome
Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (a condition called diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (a condition called optic atrophy).
Wolfram syndrom: mams 'forbindelse? - celledød og sykdom
https://intermediapub.com › wolfram-syndrome-mams-...
Wolfram syndrom (WS) er en sjelden nevrodegenerativ sykdom, de viktigste patologiske kjennetegnene som forholder seg til diabetes, optisk atrofi og døvhet.
Wolfram syndrom | www.statped.no
https://www.statped.no/.../wolfram-syndrom
Wolfram syndrom. Personer med Wolfram syndrom vil ha nærsynthet og utvikle et gradvis svinn av synsnerven. Synet blir betydelig dårligere i ungdomsalderen. Personen vil få problemer med skarpsyn og farvesyn. Sukkersyke, som også er en del av syndromet, kan ytterligere forverre synet som følge av forandringer i øyets netthinne.
Orphanet: Wolfram Syndrom
https://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=DE&Expert=3…
Wolfram-Syndrom. Krankheitsdefinition. Eine seltene, genetische, endokrine Störung, die durch Diabetes insipidus (DI), Diabetes mellitus (DM) Typ I, bilaterale optische Atrophie (OA), sensorineurale Schwerhörigkeit (D) und neurologische Zeichen gekennzeichnet ist.
Wolfram syndrome - Conditions - GTR - NCBI
www.ncbi.nlm.nih.gov › gtr › conditions
wfs1 wolfram syndrome spectrum disorder (wfs1-wssd) is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus (dm) and optic atrophy (oa) before age 16 years, and typically associated with other endocrine abnormalities, sensorineural hearing loss, and progressive neurologic abnormalities (cerebellar ataxia, …
Wolfram syndrome: MedlinePlus Genetics
medlineplus.gov › genetics › condition
Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin ( diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy).
Wolfram syndrome - Orphanet
https://www.orpha.net › OC_Exp
A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical ...
Wolfram syndrome - Genetics - MedlinePlus
https://medlineplus.gov › condition
The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (a condition called ...
Wolfram Syndrome - NORD (National Organization for Rare ...
https://rarediseases.org › wolfram-s...
Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic ...
Wolfram syndrome - Genetic and Rare Diseases Information ...
https://rarediseases.info.nih.gov › ...
Wolfram syndrome ; Cause · The two types of Wolfram · (type 1 and type 2) are primarily differentiated by their genetic cause. Variations ( mutations ) in the WFS1 ...
Wolfram Syndrome: Diagnosis, Management, and Treatment
www.ncbi.nlm.nih.gov › pmc › articles
Jan 07, 2016 · Wolfram syndrome is an autosomal recessive genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. It was first reported in 1938 by Wolfram and Wagener who found four of eight siblings with juvenile diabetes mellitus and optic nerve atrophy [1].
Wolfram syndrom - kombinerte sansetap - Statped
https://www.statped.no › wolfram-syndrom
Personer med Wolfram syndrom vil ha nærsynthet og utvikle et gradvis svinn av synsnerven. Synet blir betydelig dårligere i ungdomsalderen.
Wolfram syndrome | Genetic and Rare Diseases Information ...
https://rarediseases.info.nih.gov/diseases/7898/wolfram-syndrome
70 rader · 08.12.2014 · Wolfram syndrome, which is also known by the acronym DIDMOAD, is …
Wolf-Hirschhorns syndrom - Frambu
https://frambu.no › diagnose › wolf-hirschhorns-syndrom
Wolf-Hirschhorns syndrom (WHS) er en tilstand med flere misdannelser og utviklingshemning som resultat av delesjon (tap) av en del av den korte arm av ...
Wolframs syndrom - Socialstyrelsen
https://www.socialstyrelsen.se › wo...
Wolframs syndrom är en ärftlig fortskridande sjukdom som leder till insjuknande i diabetes mellitus, störd vätskebalans och tilltagande ...
Wolfram syndrome | Genetic and Rare Diseases Information ...
rarediseases.info.nih.gov › 7898 › wolfram-syndrome
Dec 08, 2014 · Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). [1]
Wolfram syndrome - Wikipedia
https://en.wikipedia.org › wiki › W...
Wolfram syndrome, also called DIDMOAD is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, ...
Wolfram syndrome | Diabetes UK
https://www.diabetes.org.uk › wolf...
Wolfram Syndrome is a rare genetic disorder which is also known as DIDMOAD syndrome after its four most common features (Diabetes Insipidus, ...
Wolframs syndrom - Socialstyrelsen
https://www.socialstyrelsen.se/.../wolframs-syndrom
20.01.2016 · Wolframs syndrom är en ärftlig fortskridande sjukdom som leder till insjuknande i diabetes mellitus, störd vätskebalans och tilltagande synnedsättning orsakad av att synnerven förtvinar ... Sjukdomen beskrevs första gången 1938 av de amerikanska läkarna DJ Wolfram och HP Wagener. Förekomst.
Wolfram Syndrome - NORD (National Organization for Rare ...
rarediseases.org › rare-diseases › wolfram-syndrome
Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. In addition, many people with Wolfram syndrome also develop diabetes insipidus and sensorineural hearing loss.