Friedreich ataxia

Friedreich ataxia chirwere chisina kujairika chakapfuudzwa kuburikidza nemhuri (nhaka). Inobata mhasuru nemoyo.

Friedreich ataxia inokonzerwa nehurema mune geni inonzi frataxin (FXN). Shanduko mune ino geni inokonzeresa kuti muviri uite wakawandisa chikamu cheDNA chinonzi trinucleotide repeat (GAA). Kazhinji, iwo mutumbi une anenge masere kusvika makumi matatu makopi eGA. Vanhu vane Friedreich ataxia vane makopi anosvika chiuru. Iyo yakawanda makopi eGA munhu anayo, yekutanga muhupenyu chirwere chinotanga uye nekukurumidza chichiwedzera kuipa.

Friedreich ataxia ndeye autosomal yakawandisa geni kusagadzikana. Izvi zvinoreva kuti iwe unofanirwa kutora kopi yeakaremara gene kubva kuna mai vako nababa.

Zviratidzo zvinokonzerwa nekupfeka kure kwezvivakwa munzvimbo dzehuropi uye musana wesimba unodzora kubatana, kufamba kwemhasuru, uye mamwe mabasa. Zviratidzo zvinowanzo kutanga usati wayaruka. Zviratidzo zvinogona kusanganisira:

• Kutaura kusina kujairika
• Shanduko mune zvakaratidzwa, kunyanya kuona kwemavara
• Kuderera mukukwanisa kunzwa kudengenyeka mumakumbo ezasi
• Matambudziko etsoka, senge sando chigunwe uye yakakwirira maberere
• Kunzwa kurasikirwa, izvi zvinoitika mune vangangoita gumi muzana yevanhu
• Kufamba kweziso kwaJerky
• Kurasikirwa kwekubatana uye kuenzanisa, izvo zvinotungamira kune kazhinji kuwira
• Tsvina kushaya simba
• Hapana mafungiro mumakumbo
• Kusagadzikana kufamba uye kusagadzikana kufamba (ataxia), iyo inowedzera kuwedzera nekufamba kwenguva

Matambudziko etsandanyama anotungamira mukuchinja musana. Izvi zvinogona kukonzera scoliosis kana kyphoscoliosis.

Chirwere chemwoyo chinowanzo kukura uye chinogona kutungamira kukundikana kwemoyo. Kukundikana kwemoyo kana dysrhythmias isingapindure pakurapwa kunogona kukonzera kufa. Chirwere cheshuga chinogona kukura mumatanho ekupedzisira echirwere.

Iyi bvunzo inotevera inogona kuitwa:

• ECG
• Electrophysiological zvidzidzo
• EMG (chisarudzo chemagetsi)
• Kuongorora genetic
• Tsinga conduction bvunzo
• Tsvina biopsy
• X-ray, CT scan, kana MRI yemusoro
• X-ray yechipfuva
• X-ray yemuzongoza

Ropa shuga (glucose) bvunzo dzinogona kuratidza chirwere cheshuga kana kusagadzikana kweglucose. Kuongorora kweziso kunogona kuratidza kukuvara kweiyo optic nerve, iyo inowanzoitika isina zviratidzo.

Kurapa kweFriedreich ataxia kunosanganisira:

• Kurairana
• Kurapa kwekutaura
• Kurapa kwepanyama
• Rubatsiro rwekufamba kana mawiricheya

Mafupa ekurapa (mabhureki) anogona kudikanwa kune scoliosis uye matambudziko etsoka. Kurapa chirwere chemwoyo uye chirwere cheshuga kunobatsira vanhu kurarama kwenguva yakareba nekuvandudza hupenyu hwavo.

Friedreich ataxia zvishoma nezvishoma inowedzera uye inokonzeresa matambudziko kuita zviitiko zvezuva nezuva. Vanhu vazhinji vanofanirwa kushandisa wiricheya mukati memakore gumi nemashanu kubva kutanga kwechirwere. Chirwere ichi chinogona kukonzeresa kukurumidza kufa.

Zvinetso zvinogona kusanganisira:

• Chirwere cheshuga
• Kukundikana kwemoyo kana chirwere chemwoyo
• Kurasikirwa kwekugona kutenderera

Fonera wako mupi wezvehutano kana zviratidzo zveFriedreich ataxia zvikaitika, kunyanya kana paine nhoroondo yemhuri yechirwere.

Vanhu vane nhoroondo yemhuri yeFriedreich ataxia avo vane chinangwa chekuva nevana vangangoda kufunga nezvemageneti ekuongorora kuti vaone njodzi yavo.

Ataxia yaFriedreich; Spinocerebellar kudzikira

• Central nervous system uye yekumusoro tsinga system

Mink JW. Kushungurudzika kwekufamba. Mune: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Chinyorwa chePediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016: chitsiko 597.

Warner WC, Sawyer JR. Scoliosis uye kyphosis. Mu: Azar FM, Beaty JH, Kanale ST, eds. Kushanda kwaCampbell Orthopedics. 13 ed. Philadelphia, PA: Elsevier; 2017: chitsiko 44.