Xanuunada Dhaqdhaqaaqa Naadirka ah
Xanuunada Dhaqdhaqaaqa Naadirka ah (RMD) waxay ka kooban yihiin tiro badan oo xanuuno naadir ah oo naafo ah oo leh noocyo badan oo ifafaale ah oo inta badan soo baxa caruurnimada.
Dhibaatooyinka Dhaqdhaqaaqa Naadirka ah waxaa ka mid ah*:
Abetalipoproteinemia (Bassen-Kornzweig)
Aceruloplasminemia
Acetazolamide-ka jawaab celinta ataxia xilliyeedka (ARPA)
Isbedelka ADCY5
Beddelka hemiplegia ee caruurnimada
Yaraanta amino acid decarboxylase
ataxia telangiectasia
Ataxia oo leh oculomotor apraxia noocyada 1 iyo 2
Ataxia oo leh yaraanta fitamiin E
Autosomal ataxias dhaxalka ugu badan
dyskinesia qoob ka ciyaarka caloosha
Chorea dhaxalka wanaagsan
dyskinesia gluteal laba geesood ah
Xumaanta hemifacial ee laba geesoodka ah
yaraanta Biotinidase
Cudurka basal ganglia ee ka jawaaba Biotin-thiamine
Bobble-head doll syndrome
C9orf72 ballaarinta
Deficiency creatine cerebral
Deficiency cerebral folate
Xanthomatosis cerebrotendinous
Chorea-acanthocytosis
yaraanta Cobalamin
yaraanta CoEnzyme Q10
Dentatorubropallidoluysian atrophy
Episodic ataxia nooca 2
Episodic ataxia nooca 2
Cudurka Fahr/familial basal ganglia calcification
Cudurka prion ee qoyska (cudurada Huntington-sida 1)
Fickler-Winkler nooca OPCA
Jilicsan X-isku-xiran tremor/ataxia syndrome (FXTAS)
Friedreich's ataxia
Cudurka Gaucher (neurologic subtype 3)
glut1 yaraan
glut1 yaraan
Glutaric aciduria nooca 1
Isbedelka GPR88
Hemimasticatory spasm
Cudurka qallalka-dyskinetic encephalopathies ee la iska dhaxlo
Garka lagama maarmaanka u ah dhaxalka myoclonus
Homocystinuria
Hyperekplexia
Noocyada Hypobetalipoproteinemia I iyo II
Kufor Rakeb syndrome (cudurka Parkinson 9)
Leigh syndrome iyo xanuunka Leigh-sida
Cudurka Lesch-Nyhan
Cudurka kaadida maple syrup
McLeod syndrome
Methylmalonic aciduria
Deficiency cofactor Molybdenum
Neruoacanthocytosis syndromes
Neuroferritinopathy
Niemann Pick nooca C
Dhibaatooyinka indhaha
OPA3-la xidhiidha 3-methylglutaconic aciduria (Costeff syndrome)
Lugaha xanuunka iyo lugaha dhaqaaqa
Pantothenate kinase-la xidhiidha neurodegeneration
Dyskinesia ee jimicsiga uu keeno Paroxysmal
Paroxysmal kinesiogenic choreoathetosis
Paroxysmal kinesigenic dyskinesia
Paroxysmal dyskinesia aan ahayn kinesigenic
Isbedelka PDE10A
Pelizaeus-Merzbacher cudurka
Phenylketonuria
Pontocerebellar hypoplasia
Calcification maskaxda qoyska aasaasiga ah
Propionic acidemia
Pseudochoreoathetosis
Pyruvate carboxylase yaraanta
Pyruvate dehydrogenase yaraanta kakan
Cudurka bakayle
Cudurka dib u soo celinta
Spastic ataxia nooca 2 (SPG58)
Deficiency Sulfite oxidase
Myokymia aan caadi ahayn
sclerosis tuberous
Cudurka Wilson
Xeroderma pigmentosum
Liiskani maaha mid loo dhan yahay, laakiin waxa ku jira qaar ka mid ah xanuunada dhifka ah ee inta badan laga hadlo. Wixii macluumaad dheeraad ah eeg: https://rarediseases.org/rare-diseases/ or https://rarediseases.info.nih.gov/.
Xulashada tifaftiraha: Waraaqo Xul ah
Warqado tixraac ah oo faa'iido leh oo ku saabsan cilladaha dhaqdhaqaaqa naadirka ah, oo ay soo diyaariyeen Guddiga Tafatirka Mareegaha MDS.
Astaamaha kiliinikada ee hoose ee immunology iyo daawaynta xanuunada dhaqdhaqaaqa dhexdhexaadka ah ee autoantibody
Sep 2018Ataxia-telangiectasia: Dib-u-eegis lagu sameeyo cilladaha dhaqdhaqaaqa astaamaha bukaan-socodka iyo genotype
Feb 2018Dhibaatooyinka Dhaqdhaqaaqa ee Khaladaadka Dhashay ee Dheef-shiid kiimikaad ee la daweyn karo
Dec 2018Dhibaatooyinka Dhaqdhaqaaqa ee Bukaan-socodka Qaangaarka ah ee qaba Galactosemia Classical
Feb 2013Dib-u-eegis nidaamsan oo lagu sameeyo cilladaha dhaqdhaqaaqa iyo cilladaha oculomotor ee cudurka Whipple
Oct 2018Nuxurkii ugu dambeeyay
Koorsooyinka la xiriira
Kooxaha MDS
Kooxaha bulshada ee ka shaqeeya arrimaha la xidhiidha xanuunada dhaqdhaqaaqa naadirka ah.