Izinhlobo zezifo ze-Neuron Izifo ezifaka i-ALS nokuningi
Uma abantu abaningi becabanga nganoma yini lapho bezwa amagama "isifo se-neuron," bacabanga nge-amyotrophic lateral sclerosis (ALS). Nokho, kunezinye izinhlobo eziningana zezifo ze-neuron. Ngenhlanhla, zonke izifo ze-neuron zezifo azivamile.
Sibutsetelo
Uma sisuka, izimpawu kagesi zithunyelwa kusuka ebuchosheni kuya emgodini womgogodla ngezinyawo ze-motor neurons.
Amaseli ayisisindo ahlanganisa isikhondo somgogodla bese esetjenziswa ne-neurons engezansi emitjeni ye-peripheral. Izimpawu zomgogodla ezihamba ngalezi zingu-neurons zesisulu ukuze zenze isivumelwano, okuholela ekuhambeni. Kuye ngezibalo ezithile zokuhlola okubonakalayo, izazi ze-neurologists zinganquma ukuthi inkinga isesimweni sezinzwa, futhi isuselwa kulokho, ukuxilongwa okungenzeka kube khona.
Izimo ezithinta lokhu kuveza okujwayelekile zibhekwa njengezifo ze-neuron. Uphondo oluphambene nomgogodla luphethe ulwazi oluphathelene nokuzwa, kanti uphondo lwangaphambili luthwala ulwazi oluphathelene nokunyakaza. Izifo ze-motor neurons, ngenxa yalesi sizathu, zithinta kakhulu ukunyakaza.
Izimpawu Ezivamile kanye Nezibonakaliso
Izifo ze-motor neuron zingahlukaniswa ngezigaba ezimbili eziyinhloko, kuye ngokuthi zithinta i-neuron engaphezulu noma imoto engaphansi. Ezinye izifo ze-neuron zithinta kuphela ama-neurons angaphezulu, kuyilapho ezinye zithinta ngokuyinhloko i-neurons engaphansi.
Ezinye, njenge-ALS, zithinta kokubili.
Izimpawu zesifo se-motor neuron esiphakeme zihlanganisa:
- Spasticity - Inhlanganisela yobunzima bomzimba, ukuqina, ukuqina nokungaqondakali. Njengoba ukhululekile kakhulu, imisipha yakho ingase izwe "inamathele." Nge-spasticity ephansi, ungase ukwazi ukuhambisa imisipha yakho, kodwa bayaphendula ngendlela engalindelekile noma enhle.
- Ubungqabavu - "ukuqina" okungenakuzithandela kwemisipha.
- Ukwandisa i-tendon reflexes ejulile - Isibonelo, idolo lakho ligugu lingase livezwe kakhulu kunokujwayelekile.
Izimpawu zesifo esiphansi se-neuron isifo:
- I-Atrophy - Ukulahlekelwa amandla namandla amaningi.
- Ukucatshangelwa - Ukuvinjelwa okuzenzekelayo nokuzibophezela kwemisipha okungase kubonakale njengokuthinta ngaphansi kwesikhumba.
Izinhlobo ze-Motor Neuron Diseases
Kunezifo eziningana zezifo ze-neuron ezihlukile uma zihambisana nokuthi zithinta ama-neurons aphansi noma aphansi, izimpawu zokuqala, iqembu elidala elizichaphazelayo, nokubikezela. Ezinye zazo zihlanganisa:
I-Amyotrophic Lateral Sclerosis
I-Amyotrophic lateral sclerosis (ALS), eyaziwa nangokuthi isifo sikaLou Gehrig, isifo esiqhubekayo se-neuron esihlasela abantu abangaba ngu-6 000 eMelika. Iqala ngokubuthakathaka kwemisipha, ngokuvamile ehlangothini olulodwa lomzimba. Isimo siqala ezandleni kaningi kunezinyawo. Ekuqaleni, isibonakaliso esiyinhloko singase sibe yinkimbinkimbi, kodwa ekugcineni, iqhubekela phambili ngezimpawu nezimpawu zamandla nezisetshenziswa ze-neuron. Uma i-diaphragm isithintekile, kungenziwa isidingo sokuphuza umoya. Lesi sifo ngokuvamile asivame ukuphazamisa ukuqonda, futhi iningi labantu liqaphile (ngaphandle komqondo owohloka komqondo) ngisho nalapho lesi sifo sithuthukile kakhulu.
Isikhathi sokuphila okulinganiselwe ne-ALS sineminyaka engaba mibili kuya kwemihlanu kodwa singahluka kakhulu, ngamaphesenti amahlanu abantu abaphila ngemva kweminyaka engama-20. Ngokujabulisayo, abantu abanjengososayensi uStephen Hawking bayasiza ekuqwashiseni kokubili nge-ALS nezinye izifo ze-neuron.
I-Primary Lateral Sclerosis
I-primaryal lateral sclerosis (i-PLS) isifo se-motor neurons esiphezulu, ephazamisa izimpawu ezivela ebuchosheni kuya emthonjeni womgogodla. Amaseli e-cortex ye-cerebral anomthwalo wokuhamba kancane kancane afe. Umphumela uba ubuthakathaka obuthakathaka obuthakathaka obuhambisana nezibonakaliso eziphezulu ze-neuron, ezifana nokusabalalisa, ukuqina, nokukhuphuka kwe-tendon reflexes.
Ngokungafani ne-amyotrophic lateral sclerosis, ukuthola okuncane kwe-neuron, okufana ne-atrophy kanye ne-fasciculations, akuyona into evelele. Akuqiniseki ukuthi i-PLS evamile iyini, kodwa sikholelwa ukuthi ayijwayelekile kune-ALS.
Ekuqaleni kwesifo, isifo sokuqala se-lateral sclerosis singase sidideke ne-ALS. Njengoba i-ALS ingaqala ngezibonakaliso ezingaphezulu nje ze-neuron, kungase kube iminyaka ngaphambi kokuxilongwa kwe-PLS kubonakala. Ngisho nangaleso sikhathi, kungase kube nzima ukutshela ukuthi yiziphi izimo ezibangela izimpawu, ngoba abanye abantu abane-PLS okuthiwa bazothuthukisa ukutholakala kwe-motor neuron ephansi, okufakazela ukuthi lesi sifo empeleni yi-ALS. Konke lokho kuyindlela edidekayo kakhulu yokusho ukuthi kungenakwenzeka ukwazi ukuthi isimo si-ALS ngempela noma i-PLS iminyaka eminingana ngemuva kokuqala kwezimpawu.
Ezinye izimo, njenge-paraparesis ye-spastic heritage, kuzodingeka futhi zikhishwe ngaphandle. I-PLS ijwayele ukuqhubeka kancane kancane kune-ALS, ngeziguli ngokuvamile eziphila iminyaka engaba ngu-20 nezimpawu zazo.
I-Progressive Muscular Atrophy
Ngandlela-thile, i-muscular atrophy (PMA) eqhubekayo iyaphambene ne-primary lateral sclerosis. Ku-PMA, kuphela ama-neurons aphansi aphethwe, kanti, ku-PLS, kuphela ama-neurons aphezulu alamalekile. Njengoba amantombazane aphansi aphethwe amandla, ukukhubazeka okuqhubekayo kuyimpawu evamile. Njengoba izingxenyana eziphezulu ze-neurons azithinteki, izimpawu eziphezulu ze-motor neuron ezifana nokuqina kungenzeki. I-atrophy ye-muscle ye-progressive ayifani kakhulu kune-ALS kodwa inokubikezela kangcono.
Kungaba inqubo yokwenza ubuhlungu bokuthola ukuxilongwa kwe-muscular atrophy okuqhubekayo njengoba izimpawu zifana nezinye izimo. Ngokuyinhloko, izifo ezinjenge-ALS, i-multifocal motor neuropathy (uhlobo lwe- peripheral neuropathy ) kanye ne- atrophy yemisipha yomgogodla kufanele iqale ukukhishwa kuqala ngaphambi kokuba kutholakale ukuxilongwa okucacile.
Ukukhubazeka okuqhubekela phambili kwe-Bulbar
Ukukhubazeka kwe-bulbar okuqhubekayo kuhilela ukuwohloka okuncane kwe-brainstem, okuqukethe izinzwa ( ukucindezeleka kwemizwa ) okulawula ubuso, ulimi, nomphimbo. Ngenxa yalokho, umuntu onomkhuhlane ophuthumayo uzoqala ukubhekana nobunzima bokukhuluma, ukugwinya nokuhlafuna. Ubuthakathaka be-Limb bungase bubonakale nakakhulu njengoba lesi sifo sithuthuka, kokubili izimpawu ezingaphezulu nangaphansi kwe-neuron. Abantu abane-bulbar palsy abaqhubekayo bangase babe nokulawulwa okungalawuleki futhi ngezinye izikhathi ukungahleleki okungafanelekile kokuhleka noma ukukhala. Kuyinto engavamile kubantu abanokukhubazeka okuqhubekayo ukuqhubekela phambili ukuthuthukisa i-ALS. I-Myasthenia gravis iyi-dismune ne-neuromuscular disorder engase ivele ngendlela efanayo.
I-Post-Polio Syndrome
I-polio igciwane elihlasela ama-neurons engxenyeni yangaphakathi yomgogodla, okwenza kube nokukhubazeka. Ngokujabulisayo, ngenxa yokugoma okunamandla, leli gciwane liye laqedwa. Abanye balabo abaye banesifo, noma kunjalo, bangase bakhononde ngobuthakathaka obubizwa ngokuthi i-post-polio syndrome. Lokhu kungenxa yokuguga noma ukulimala okubangela ukuthi amancane amantombazane athile aqhubeke nokulawula ukuhamba kwesigungu esithintekayo ngaphambili. Isiyaluyalu sithinta kuphela abantu asebekhulile abaye baba nesifo sofuba esikhathini esidlule. Ngokuvamile akuyona impilo esongelayo.
Izifo zikaKennedy
Isifo sikaKennedy sitholakala ngenxa yokuguquka kwezakhi zohlobo lwe-X ezixhunyanisweyo ezithinta i-androgen receptor. Lesi sifo senza ubuthakathaka obuqhubekayo kancane kancane nobuhlungu bezinsizwa eziseduze ne-torso. Ubuso, umhlathi, nolimi nazo zihilelekile. Ngenxa yokuthi ixhunyiwe X, isifo sikaKennedy ngokuvamile sithinta amadoda. Abesifazane abanezakhi zofuzo bangabathwali, abanamaphesenti angama-50 amathuba okudlulisa isakhi kubantwana babo. Abesifazane abanokuguqulwa bangase bahlushwa izimpawu ezincane, njengezinqamuzana zeminwe, esikhundleni sokubuthakathaka okujulile.
Ngenxa yokuthi lesi sifo sithinta i-androgen receptor (i-receptor lapho i-estrogen ne-testosterone ifaka khona), amadoda ane-disorder angase ahlupheke nezimpawu ezifana ne- gynecomastia (ukukhuliswa kwesifuba), i-testicular atrophy, nokusebenza kabi kwe-erectile. Ukuphila kwabantu abanesifo sikaKennedy ngokuvamile kuvamile, nakuba njengoba ubuthakathaka babo beqhubeka bangadinga isihlalo sabakhubazekile.
I-Atrophy yama-spinal muscular
I-atrophy ye-spinal muscular yisifo esizuzwe njengefa esithinta kakhulu izingane. Kubangelwa ukukhubazeka kulesi sifo se-SMN1 futhi izuzwe njengefa ngephethini ephindaphindiwe ye-autosomal. Ngenxa yalesi sakhi esiyiphutha, akukho amaprotheni okwanele e-SMN okwenziwa, futhi lokhu kuholela ekwenzeni ukushisa kwe-motor neurons ephansi. Lokhu kuholela ekubuthakathaka nasekusikeni kwemisipha.
Kunezinhlobo ezintathu eziyinhloko ze-SMA, ngalinye lihilela izingane eminyakeni ehlukile.
- I-SMA type 1, ebizwa nangokuthi isifo se-Werdnig-Hoffman, iba sobala ngesikhathi ingane ineminyaka eyisithupha ubudala. Ingane izoba ne-hypotonia (imisipha ye-floppy) futhi ngeke ihambe ngokuzenzekelayo. Ngeke bakwazi ukuhlala ngokwabo ngesikhathi esilindelekile. Ngenxa yobunzima bomoya futhi ugcine amandla okuphefumula, iningi lalaba bafa baneminyaka emibili.
- Uhlobo lwe-SMA II luqala kancane kancane, lubonakala phakathi kweminyaka engu-6 kuya kwezingu-18. Lezi zingane ngeke zikwazi ukuma noma ukuhamba ngaphandle kosizo, futhi zizoba nezinkinga nokuphefumula. Kodwa-ke, izingane ezine-SMA type II zihlala isikhathi eside kunama-Werdnig-Hoffman, ngezinye izikhathi zihlala zibe abantu abadala.
- Uhlobo lwe-SMA IIII olubizwa ngokuthi iKagelberg-Welander isifo, luyabonakala phakathi kweminyaka emibili neminyaka engu-17. Izingane ezinalesi sifo zingase zibe nobunzima bokugijima noma ukunyuka kwezinyathelo. Bangase babe nezinkinga emuva, njenge- scoliosis . Kodwa-ke, izingane ezinalesi sifo zingase zibe nokuphila okuvamile.
Ukuxilongwa Nokunakekelwa
Akukho ukwelashwa okuphumelelayo kunoma yiziphi izifo ze-neuron. Ukwelashwa kwezokwelapha kugxile ekulawuleni izimpawu zesifo njengoba kungenzeka ngangokunokwenzeka. Kodwa-ke, ukuze ukwazi ukuthi yiziphi izimpawu okufanele uzilindele, kanye nokulawula ezinye izifo ezithathelwanayo, kubalulekile ukuthola ukuhlonza kahle.
Ukusebenzisa ukuhlolwa kwabo ngokomzimba nezinye izindlela ezifana ne- electromyography , izifundo ze-nerve conduction, kanye nokuhlolwa kofuzo uma kudingeka, izazi zezinzwa zingasiza ekuchazeni ukuxilongwa okulungile. Ukuba ne-diagnostic efanele kuvumela ukuba i-neurologist yakho ikwazi ukuphatha izimpawu zakho ngangokunokwenzeka futhi ukulindela nokulungisa noma yikuphi ukucindezeleka okulindelekile.
Ukubhekana
Ekuqaleni, sathi amahlumela okuthiwa "ngenhlanhla" ayesavamile. Lokhu kungaba kuhle ngaphandle kokuthi wena noma othandekayo uhlakulele enye yalezi zimo. Khona-ke, ngaphezu kokuhlushwa izimpawu zalesi sifo, ungathola ukuthi kukhona ucwaningo olungaphansi nokusekelwa okuncane kunalokho ongayethemba. Ngenkathi lezi zifo zingavamile, izinyathelo ezifana ne- Orphan Drug Act ziqondisa kakhulu lezi zimo ezingavamile kodwa ezingabalulekile.
Ungase uzizwe wedwa uma uthola ukuthi unesifo se-neuron. Ngokungafani namaqembu amakhulu "abameli bomdlavuza webele" laphaya, asiboni amaqembu amakhulu, ngokwesibonelo, abagqugquzeli be-palsy abaqhubekayo. Kodwa ukuqwashisa kuyanda, futhi okungenani ku-ALS, ukusekelwa.
Abantu abanesifo se-neuron badinga ukwesekwa njengalabo abanezimo ezivame kakhulu. Ngenkathi ungenalo iqembu lokusekela emphakathini wakho, kunemiphakathi yokusekela inthanethi lapho abantu abanezimo ezithile ze-neuron "abangahlangana" futhi baxoxe nabanye ababhekana nezinselele ezifanayo. Nakuba singenayo "iphilisi" noma ukuhlinzwa ukuphatha lesi sifo, kuningi okungenziwa ukuze kusize abantu baphile kahle nesifo, futhi ucwaningi lwamanje lunikeza ithemba lokuthi intuthuko izokwenziwa esikhathini esingakaze kube khona manje kusasa.
Imithombo
- Garg, N., Park, S., Vucic, S. et al. Ukuhlukanisa ama-Lower Motor Neuron Syndromes. Journal of Neurology, Neurosurgery, kanye Psychiatry . 2016 Dec 21. (Epub ngaphambi kokuphrinta).
- Kasper, uDennis L .., u-Anthony S. Fauci, noStephen L .. Hauser. Izimiso zikaHarrison zeMithi yangaphakathi. I-New York: Imfundo ye-Mc Graw-Hill, 2015. Phrinta.
- Ng, L., Khan, F., Young, C., noM. Galea. Ukwelashwa Okuyisimangaliso for Amyotrophic Lateral Sclerosis / Motor Neuron Izifo. I-Cochrane Database yezibuyekezo ezihleliwe . 2017. 1: CD0111776.
- Roper. Adams kanye Nemigomo kaVictor ye-Neurology, 10e. Np: McGraw-Hill, 2014. Phrinta.