Sengoli: Clyde Lopez
Letsatsi La Creation: 20 Phupu 2021
Ntlafatsa Letsatsi: 16 November 2024
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Friedreich’s ataxia - causes, symptoms, diagnosis, treatment, pathology
Video: Friedreich’s ataxia - causes, symptoms, diagnosis, treatment, pathology

Friedreich ataxia ke lefu le sa tloaelehang le fetisoang ke malapa (a futsitsoeng). E ama mesifa le pelo.

Friedreich ataxia e bakoa ke bofokoli ba lefutso le bitsoang frataxin (FXN). Liphetoho tsa lefutso lena li etsa hore 'mele o etse karolo e ngata haholo ea DNA e bitsoang trinucleotide repeat (GAA). Ka tloaelo, 'mele o na le likopi tse ka bang 8 ho isa ho tse 30 tsa GAA. Batho ba nang le Friedreich ataxia ba na le likopi tse ka bang 1 000. Likopi tse ngata tsa GAA tseo motho a nang le tsona, lefu lena le qala kapele bophelong mme le mpefala kapele.

Friedreich ataxia ke boloetse bo fetelletseng ba liphatsa tsa lefutso. Sena se bolela hore o tlameha ho fumana kopi ea liphatsa tsa lefutso tse sa sebetseng ho 'm'ao le ntate oa hau.

Matšoao a bakoa ke ho senyeha ha meaho libakeng tsa boko le lesapo la mokokotlo tse laolang tšebelisano, motsamao oa mesifa le mesebetsi e meng. Matšoao a atisa ho qala pele ho bocha. Matšoao a ka kenyelletsa:

  • Puo e sa tloaelehang
  • Liphetoho ponong, haholo-holo pono ea mebala
  • Fokotsa bokhoni ba ho utloa ho thothomela maotong a tlase
  • Mathata a maoto, joalo ka menoana ea hamore le li-arches tse phahameng
  • Tahlehelo ea kutlo, sena se etsahala ho batho ba ka bang 10%
  • Mehato ea mahlo ea Jerky
  • Tahlehelo ea khokahano le botsitso, e lebisang ho oeng khafetsa
  • Bofokoli ba mesifa
  • Ha ho na maikutlo maotong
  • Mehato e sa tsitsang le e sa tsamaellaneng (ataxia), e mpefalang le nako

Mathata a mesifa a lebisa liphetohong mokokotlong. Sena se ka baka scoliosis kapa kyphoscoliosis.


Lefu la pelo hangata le hlaha mme le ka lebisa ho hloleha ha pelo. Ho hloleha ha pelo kapa li-dysrhythmias tse sa arabeleng kalafo li ka baka lefu. Lefu la tsoekere le ka hlaha maemong a morao a lefu lena.

Liteko tse latelang li ka etsoa:

  • ECG
  • Lithuto tsa Electrophysiological
  • EMG (motlakase oa motlakase)
  • Ho etsa liteko tsa lefutso
  • Liteko tsa ho tsamaisa methapo
  • Biopsy ea mesifa
  • X-ray, CT scan, kapa MRI ea hlooho
  • X-ray ea sefuba
  • X-ray ea mokokotlo

Liteko tsa tsoekere ea mali (tsoekere) li ka bontša ts'oaetso ea lefu la tsoekere kapa tsoekere. Ho hlahlojoa mahlo ho ka bontša tšenyo ea methapo ea mahlo, e atisang ho etsahala ntle le matšoao.

Kalafo ea Friedreich ataxia e kenyelletsa:

  • Tlhabollo
  • Phekolo ea puo
  • Phekolo ea 'mele
  • Lithuso tsa ho tsamaea kapa litulo tsa likooa

Lisebelisoa tsa masapo (li-brace) li ka hlokahala bakeng sa mathata a scoliosis le maoto. Ho phekola lefu la pelo le lefu la tsoekere ho thusa batho ho phela halelele le ho ntlafatsa bophelo ba bona.


Friedreich ataxia e ntse e mpefala butle butle mme e baka mathata ho etsa mesebetsi ea letsatsi le letsatsi. Batho ba bangata ba hloka ho sebelisa setulo sa likooa pele ho feta lilemo tse 15 lefu le qalile. Lefu lena le ka lebisa lefung la pele ho nako.

Mathata a ka kenyelletsa:

  • Lefu la tsoekere
  • Ho hloleha ha pelo kapa lefu la pelo
  • Ho lahleheloa ke matla a ho tsamaea

Bitsa mofani oa tlhokomelo ea bophelo haeba matšoao a Friedreich ataxia a etsahala, haholoholo haeba ho na le nalane ea lelapa ea lefu lena.

Batho ba nang le nalane ea lelapa ea Friedreich ataxia ba ikemiselitseng ho ba le bana ba ka batla ho nahana ka tlhahlobo ea liphatsa tsa lefutso ho bona kotsi ea bona.

Atxia ea Friedreich; Ho senyeha ha Spinocerebellar

  • Sisteme ea methapo e bohareng le methapo ea methapo

Mink JW. Mathata a tsamaiso. Ka: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, bahlophisi. Buka ea Nelson ea Pediatrics. 20th, ed. Philadelphia, PA: Elsevier; 2016: khaolo ea 597.


Warner WC, Sawyer JR. Scoliosis le kyphosis. Ka: Azar FM, Beaty JH, Kanale ST, eds. Masapo a sebetsang a Campbell. 13th ed. Philadelphia, PA: Elsevier; 2017: khaolo ea 44.

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