Umlobi: Clyde Lopez
Usuku Lokudalwa: 20 Ujulayi 2021
Ukuvuselela Usuku: 16 Unovemba 2024
Anonim
Friedreich’s ataxia - causes, symptoms, diagnosis, treatment, pathology
Ividiyo: Friedreich’s ataxia - causes, symptoms, diagnosis, treatment, pathology

I-Friedreich ataxia isifo esingajwayelekile esidluliselwa emindenini (ezuzwe njengefa). Kuthinta imisipha nenhliziyo.

I-Friedreich ataxia idalwa ukukhubazeka kufuzo olubizwa nge-frataxin (FXN). Izinguquko kulesakhi zofuzo zidala ukuthi umzimba wenze ingxenye enkulu kakhulu ye-DNA ebizwa nge-trinucleotide repeat (GAA). Imvamisa, umzimba uqukethe cishe amakhophi ayi-8 kuye kwangama-30 weGAA. Abantu abane-Friedreich ataxia banamakhophi afinyelela ku-1 000. Lapho amakhophi amaningi we-GAA umuntu anayo, ekuqaleni kwempilo lesi sifo siqala futhi sisheshe sibe sibi kakhulu.

I-Friedreich ataxia iyi-autosomal recessive genetic disorder. Lokhu kusho ukuthi kufanele uthole ikhophi yesakhi esinezici esivela kunina nakubaba wakho.

Izimpawu zidalwa ukugqokwa kwezakhiwo ezindaweni zobuchopho nomgogodla ezilawula ukuhlangana, ukunyakaza kwemisipha, neminye imisebenzi. Izimpawu zivame ukuqala ngaphambi kokuthomba. Izimpawu zingafaka:

  • Inkulumo engajwayelekile
  • Izinguquko kumbono, ikakhulukazi umbono wombala
  • Nciphisa ikhono lokuzwa ukunyakaza emilenzeni engezansi
  • Izinkinga zezinyawo, njengezinzwane zesando nemengamo ephakeme
  • Ukulahleka kokuzwa, lokhu kwenzeka kubantu ababalelwa ku-10%
  • Ukunyakaza kwamehlo kukaJerky
  • Ukulahlekelwa kokuxhumanisa nokulinganisela, okuholela ekuweni okuvamile
  • Ubuthakathaka bemisipha
  • Azikho izingqondo emilenzeni
  • Ukuhamba okungazinzile nokunyakaza okungahambisani (i-ataxia), okuya ngokuya kuba kubi ngokuhamba kwesikhathi

Izinkinga zemisipha ziholela ekuguqulweni komgogodla. Lokhu kungaholela ku-scoliosis noma i-kyphoscoliosis.


Isifo senhliziyo sivame ukukhula futhi singaholela ekuhlulekeni kwenhliziyo. Ukwehluleka kwenhliziyo noma ama-dysrhythmias angaphenduli ekwelashweni kungaholela ekufeni. Isifo sikashukela singakhula ngezigaba zakamuva zesifo.

Ukuhlolwa okulandelayo kungenziwa:

  • ECG
  • Izifundo ze-Electrophysiological
  • I-EMG (i-electromyography)
  • Ukuhlolwa kofuzo
  • Ukuhlolwa kokuqhutshwa kwemizwa
  • Imisipha biopsy
  • I-X-ray, i-CT scan, noma i-MRI yekhanda
  • I-X-ray yesifuba
  • I-X-ray yomgogodla

Ukuhlolwa kukashukela egazini (ushukela) kungakhombisa ukungabekezelelani kwesifo sikashukela noma seglucose. Ukuhlolwa kwamehlo kungakhombisa ukulimala kwe-optic nerve, okuvame ukwenzeka ngaphandle kwezimpawu.

Ukwelashwa kwe-Friedreich ataxia kufaka:

  • Ukwelulekwa
  • Ukwelashwa kwenkulumo
  • Ukwelashwa ngokomzimba
  • Izinsiza zokuhamba noma izihlalo ezinamasondo

Imishini yokwelapha ngamathambo (ama-brace) ingadingeka kwizinkinga ze-scoliosis nezinyawo. Ukwelapha isifo senhliziyo nesifo sikashukela kusiza abantu ukuthi baphile isikhathi eside futhi bathuthukise impilo yabo.


I-Friedreich ataxia iya ngokuya iba yimbi futhi idale izinkinga zokwenza imisebenzi yansuku zonke. Iningi labantu lidinga ukusebenzisa isihlalo esinamasondo kungakapheli iminyaka eyi-15 siqale lesi sifo. Lesi sifo singaholela ekufeni kusenesikhathi.

Izinkinga zingafaka:

  • Isifo sikashukela
  • Ukwehluleka kwenhliziyo noma isifo senhliziyo
  • Ukulahlekelwa amandla okuhamba

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma kwenzeka izimpawu ze-Friedreich ataxia, ikakhulukazi uma kunomlando womndeni walesi sifo.

Abantu abanomlando womndeni kaFriedreich ataxia abahlose ukuba nezingane bangafuna ukucubungula ukuhlolwa kofuzo ukuthola ubungozi babo.

Atxia kaFriedreich; Ukwehla kwe-Spinocerebellar

  • Isistimu yezinzwa emaphakathi nesistimu yezinzwa ezungezayo

UMink JW. Izinkinga zokuhamba. Ku: Kliegman RM, Stanton BF, St Geme JW, Schor NF, ama-eds. Incwadi kaNelson Yezingane. Umhla ka-20. IPhiladelphia, PA: Elsevier; 2016: isahluko 597.


I-Warner WC, iSawyer JR. I-Scoliosis ne-kyphosis. Ku: Azar FM, Beaty JH, Kanale ST, ama-eds. I-Operational Orthopedics yaseCampbell. Umhlaka 13. IPhiladelphia, PA: Elsevier; I-2017: isahluko 44.

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