IQela lokufunda leZiphene zokuNyula eziNqabileyo
Ngaba unemibuzo? Nxibelelana ne-MDS Staff Liaison, uPaige Spaude, ku-pspaude@movementdisorders.org
Ugunyaziso/ Injongo
- Ukuchaza, uphawu kunye nokuseka ubuninzi be-RMD
- Ukusebenzela ukuphuhlisa imvisiswano yezizwe ngezizwe ukukhuthaza ukuxilongwa, ukuchongwa, ukwahlula, ukusasazwa, uphando kunye novavanyo lokuguqulela kwizifo zeenkedama ezinokuphazamiseka kwentshukumo.
- Ukuchaza iinkqubo zokuxilonga ezisemgangathweni
- Ukungqinelanisa neMisebenzi yoMsebenzi weNomenclature yeGeneticallydetermined Movement Disorders
- Ukuphuhlisa, ukuguqulela kunye nokungqinisisa ikharityhulam yemfundo ethile kwezi ngxaki
- Ukuphuhlisa izikhokelo zeKlinikhi eLungileyo (GCP) yokuxilongwa kunye ne-pharmacologic kunye nonyango olungelulo lwe-pharmacologic
- Ukudibanisa izifundo zophando lwentsebenziswano ye-RMD
Jonga imvelaphi
UMbutho wezeMpilo weHlabathi (i-WHO) awukhuthazi inkcazo enye yezifo zeenkedama. Kwamanye amazwe (umzekelo, eJapan, eArgentina, eUnited States) ukuxhaphaka okwamkelekileyo kususela kwi-1/1,000 ukuya kutsho kwisi-1/2,500; ngelixa kwezinye (umzekelo, iKhomishini yaseYurophu) ayifuni nje ukuxhaphaka okuphantsi kodwa "imeko yeklinikhi esongela ubomi okanye engapheliyo". Ngenkqubela phambili yamva nje kwi-molecular genetics kukho ukwanda kwenani lezifo ezinqabileyo ezichongiweyo, ezininzi zazo ezibandakanya ukuphazamiseka kwentshukumo.
I-Orphan okanye i-Rare Movement Disorders (RMD) iquka inani elikhulu leengxaki ezinqabileyo kunye nezikhubaza kunye ne-phenotypic spectrum ebanzi ehlala ivela ebuntwaneni. Inani lemiba malunga nokuchongwa kwesigulane, ukuxilongwa, umgangatho wokunyamekela, ukungabikho konyango oluthile lonyango kunye neziphumo zeziphumo zenza izizathu ezifanelekileyo zokuphuhlisa iqela lokufunda eligxile kwesi sihloko.
Okwangoku, iQela lokufunda le-RMD lijolise ekuhlanganiseni abaphandi, amaqela ezigulane kunye nabasebenzi bezempilo; kwakunye nokukhuthaza uphando ukuze kuphuculwe iindlela zokuxilonga kunye nonyango lwezifo zeenkedama kuquka nezo ziphazamiseka ekuhambeni. Nangona kunjalo, umzamo olungelelanisiweyo kwinqanaba lamazwe ngamazwe uyafuneka ukuqhubela phambili uphando lwe-RMD, kunye nokwandisa imfundo kunye nokwazisa malunga nezi ngxaki.
IQela lokufunda limele ithuba lokuphuhlisa ubhaliso lwamazwe ngamazwe lwe-RMD. Le registry iya kuququzelela uphuhliso lomgangatho ophezulu wezifundo zokujongwa kunye nongenelelo lwe-RMD kwihlabathi liphela.
iiprojekthi
Amalungu ethu ngoku asebenza kwi-questionnaire yokuqala eyidrafti, ejongene nenkcazo, ukulinganisa, kunye nokuphindaphinda kweyona miba ichaphazelekayo enxulumene ne-RMD ukwenzela ukudala iphepha lesikhundla elibonisa izithuba ezikhoyo kunye nokukhokela iinzame zexesha elizayo.
Ukuba unento yokwenza igalelo kwezi zihloko zeprojekthi yeqela langoku, nceda ufikelele kuqhagamshelwano:
- Isifo sikaWilson: uNeil Mahant, nmhant@gmail.com
- DBS Dystonia Series: Harini Sarva has9059@med.cornell.edu okanye uFederico Rodriguez-Porcel rodrigfe@musc.edu
- I-VAC14 Dystonia Parkinsonism: uChristopher Stephen, cstephen@mgh.harvard.edu
- Ingqiqo ye-International Polycynthemia Vera kunye ne-Movement Disorders Series: Emilia Gatto, emiliamgatto@gmail.com
- Ingqiqo yeHemochromatosis kunye nokuphazamiseka kokuhamba: uPedro Garcia Ruiz, pgarcia@fjd.es
- Isifo seswekile iStriatopathy, uHarini Sarva has9059@med.cornell.edu
ubunkokheli
Sihlalo
UBettina Balint
Sihlalo
UChristopher Stephen
Ikomiti eqhubayo
UNicholas Aderinto
UBettina Balint
I-Orlando Barsottini
Amit Batla
Kailash Bhatia
UMiryam Carecchio
Ajith Cherian
Divyani Garg
UMariam Hull
UDaniela Munoz Chesta
uPramod uPal
UGiulietta Riboldi
UHarini Sarva
Amaphepha apapashiweyo
Uvavanyo oluBalulekileyo lweMfuzo kwiingxaki zokunyakaza - Iziphumo ezivela kwiSifundo seDelphi
- Uvavanyo lwezonyango lwemfuza kwiPD
- I-Genetic Nomenclature
- Iziphazamiso zeMovement ezinqabileyo
Indima yemfuzo kunyango lwe-dystonia ngokuvuselela kwengqondo enzulu: uphononongo olucwangcisiweyo kunye nohlalutyo lweMeta.
- Iziphazamiso zeMovement ezinqabileyo
Izithintelo zehlabathi jikelele kuvavanyo lwemfuzo yokuphazamiseka kwentshukumo
- Iziphazamiso zeMovement ezinqabileyo
Uphononongo lwe-Hereditary kunye neFunction Choreas eziRare
- Iziphazamiso zeMovement ezinqabileyo
Ukuphazamiseka okufana nesifo sikaHuntington eLatin America nakwiCaribbean
- Iziphazamiso zeMovement ezinqabileyo
Ziyanyangeka ezixhaphakileyo kwintshukumo engaqhelekanga
- Iziphazamiso zeMovement ezinqabileyo
Iimbonakalo
Amanqaku namabali malunga neqela.
