Chorea kunye neSifo sikaHuntington

Ukuxilongwa kulucelomngeni kuba i-chorea ine-phenomenology efanayo kungakhathaliseki i-etiology yayo. I-Chorea idla ngokuhlelwa njengeprayimari (idiopathic, hereditary) okanye eyesibini (efunyenweyo). Iziphazamiso ze-choreiform ze-Hereditary zikholisa ukukhula ngokufihlakeleyo kwaye ziqhelekile zilingane, ngelixa i-chorea efunyenweyo inokuthi ibe bukhali okanye ibe ncinci kwaye ingabikho macala okanye inye. Kukho uluhlu olubanzi lwezizathu ezibonakala zingahambelani, ukusuka ekukhulelweni (i-chorea gravidarum) ukuya kwiifom ezizuzwe njengesifo sikaHuntington kunye ne-benign hereditary chorea, usulelo / ezinxulumene ne-immune ezifana ne-Sydenham's chorea kunye ne-systemic lupus erythematosus, izilonda ze-vascular focal kwi-basal ganglia, iziyobisi ezifana ne-levodopa, i-neurotraception kunye ne-oncriral ehlukahlukeneyo. Iziphazamiso ezifana ne-hyperthyroidism, i-hypo / hyperparathyroidism kunye ne-hypo / hyperglycemia. I-pathophysiology yayo ibandakanya ukungasebenzi kakuhle kwesekethe ye-basal ganglia motor, apho isiphumo sokugqibela se-thalamic-cortical sandisiwe, okukhokelela ekunyukeni kwentshukumo kunye ne-chorea. Ukuphazamiseka kwe-basal ganglia circuitry kunokuba ngenxa yomonakalo wesakhiwo, ukuchithwa kwe-neuronal ekhethiweyo, i-neurotransmitter receptor blockade, i-metabolic derangements, okanye iimeko ezizimele.

Unyango lwe-chorea lubandakanya ukujongana ne-etiology yeengcambu zayo. Ngelishwa, akukho arhente ibonakaliswe ukuba iyacotha okanye imise ukuqhubeka kwe-chorea yelifa, ngaphandle konyango lokunciphisa ubhedu kwisifo sikaWilson. Olona nyango luqhelekileyo lweempawu ze-chorea lubandakanya ukusetyenziswa kwe-dopamine receptor blocking agents kunye ne-dopamine depleters ezifana ne-tetrabenazine, i-valbenazine, kunye ne-deutetrabenazine. I-Autoimmune chorea syndromes efana ne-systemic lupus erythematosus (SLE) kunye ne-antiphospholipid antibody syndrome inokuphinda iphendule unyango kunye ne-glucocorticoids, i-plasma exchange, okanye i-immunoglobulin ye-intravenous (IVIG).

Ixhaswe nguShu-Leong Ho, MD, FRCP
UHenry G. Leong uNjingalwazi kunye neNtloko yeCandelo leYunivesithi yaseHong Kong,
Isibhedlele iQueen Mary
ICandelo leNeurology, iSebe lezoNyango
Hong Kong

Uhlaziyo luka-2019 oluxhaswe ngu:

UEstere Cubo, MD, PhD
Neurologist
Isibhedlele saseUniversitario Burgos
Burgos, eSpain

UMark Guttman, MD, FRCPC
umlawuli
Iziko leZiphazamiso zeMovement
Toronto, ON, Canada

UBrandon Barton, MD
UNjingalwazi oncedisayo
IZiko lezoNyango leYunivesithi iRush
Chicago, IL USA

Isifo sikaHuntington siphawulwa ngokweklinikhi ngeempawu ezintathu zemoto, ingqondo kunye nengqondo. Iimpawu zeMoto zibandakanya: ukonakala kokunganyanzelekanga (chorea) kunye neentshukumo zokuzithandela; ukunciphisa ubuchule bezandla, intetho engacacanga, ubunzima bokuginya, iingxaki zokulinganisela kunye nokuwa. Isenokubonisa kunye ne-parkinsonism kunye ne-dystonia (ixhaphake kakhulu ekuqaleni kolutsha, ebizwa ngokuba yi-Westphal variant). Iimpawu zengqondo ziphawulwa ekuqaleni ngokulahleka kwesantya kunye nokuguquguquka ekucingeni, kodwa kamva zikhula zibe yi-dementia yehlabathi. Iimpawu zengqondo zinokuquka: ukudakumba (eyona nto ixhaphakileyo), ukuphambana, ukuphazamiseka kwengqondo, ukucaphuka, ukuxhalaba, ukuphazamiseka, ukungxama, ukungakhathali, kunye nokurhoxa ekuhlaleni.

Ukuxilongwa okuqinisekileyo ngovavanyo lofuzo kwaye kuqinisekiswe ngokufunyaniswa kohlalutyo lokuguqulwa kwenguqu ekujoliswe kuyo yokwandiswa kwe-CAG trinucleotide ≥36 ukuphinda kwi-HTT gene. Uvavanyo lofuzo oluqikelelwayo lukhetho lwabantu abasemngciphekweni wokuphuhlisa i-HD, udidi olubandakanya abantu abangenazimpawu ezinembali yosapho oluhle lwe-HD, okanye izigulana ezinembali entle yosapho ezineempawu zeprodromal (umzekelo, ukucaphuka, ukuxhalaba, ukudakumba, okanye ukuphazamiseka kwengqondo) ezicebisa ukuqala okuzayo kweempawu zeHD. Ukucetyiswa kwangaphambili kwemfuzo kuyacetyiswa phambi kokuba ulandele uvavanyo lwemfuzo oluqikelelweyo. Kwiintsapho ezine-HD, uvavanyo lwemfuza yokufakelwa kwangaphambili lunokwenzeka kwaye ngoko ke ukukhetha iimbumba ezinokuthi zidluliselwe ngaphandle kokuguqulwa kofuzo lwe-HD. Uvavanyo lwaphambi kokubeleka lwenziwa kuphela kwiimeko apho umama uya kuthathela ingqalelo ukupheliswa kokukhulelwa ukuba usana olungekazalwa lufunyenwe lunentsholongwane. Kungenjalo, uvavanyo lwaphambi kokubeleka luyafana nokuvavanya umntwana ongenazimpawu, nto leyo engakhuthazwayo ngokweenqobo zokuziphatha.

Kwisigulane esine-chorea esine-atypical ye-HD okanye i-negative ye-HD yokuguqulwa kofuzo, ukuxilongwa okuhlukileyo kubanzi kwaye kuqulethe izizathu ezifunyenweyo ze-chorea. Kwezi meko, i-MRI yobuchopho inokuba luncedo ekuchongeni enye indlela yokuxilongwa, efana ne-ischemic infarction, i-pantothenate kinase-associated neurodegeneration, i-multiple sclerosis, i-neoplasm, okanye isifo se-Creutzfeldt-Jakob. Ngaphandle koko, uvavanyo olongezelelweyo kufuneka luboniswe ngokusekelwe kwimbali yonyango kunye nentsapho, uvavanyo lomzimba kunye ne-neurological.

Ukhathalelo olungcono kakhulu lwezigulane ezine-HD lunikezelwa liqela leengcali ezininzi zezempilo kunye nabanyamekeli abaxhasayo abajongene neemfuno ezibanzi zomzimba kunye neengqondo zezigulane kunye neentsapho, kwaye zilawula imiba emitsha njengoko ivela ngokulandelelana kwexesha elide. I-Dopamine receptor blocking agents okanye i-dopamine depleting agents zingasetyenziswa ukuba i-chorea iphazamisa umgangatho wobomi. Iimpawu zengqondo ezifana nokudakumba, ukuphazamiseka kwengqondo kunye nokuphazamiseka zilawulwa ngokufanayo njengayo nayiphi na imeko yengqondo. Iindlela ezingezizo ze-pharmacologic kubunzima obusebenzayo kunye nokuphazamiseka kokuziphatha kwisifo sikaHuntington zibalulekile Ungenelelo lwe-Non-pharmacological lubandakanya unyango lwentetho kunye nenkonzo yokutya yokulawula i-dysphagia kunye nokulahlekelwa kwesisindo, i-physical therapist ukujongana nokukhubazeka kwe-gait kunye nokuwa, Ngelishwa, akukho unyango olusebenzayo olwaziwayo lwe-dementia ehambelana ne-HD. Utyando lwe-stereotactic (DBS) kwiimeko ezinzima kunye nezikhubazayo ze-chorea ziye zaxelwa. Unyango lophando olunje ngokuthuliswa kofuzo ngokusebenzisa ubuchule be-antisense oligonucleotide buyaqhubeka ngoku.

Ixhaswe nguHubert Fernandez, MD
Intloko, iziphazamiso zeMovement
ISebe leNeurology
Kliniki yaseCleveland
Cleveland, Ohio USA
 

Uhlaziyo luka-2019 nguEsther Cubo, MD, PhD kunye noMark Guttman, MD, FRCPC