Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy kushaya simba kwemhasuru uye kurasikirwa kwemhasuru yemhasuru inowedzera kuwedzera nekufamba kwenguva.

Facioscapulohumeral muscular dystrophy inokanganisa masimba epamusoro emuviri. Hazvina kufanana neDuchenne muscular dystrophy uye Becker muscular dystrophy, iyo inokanganisa muviri wezasi.

Facioscapulohumeral muscular dystrophy chirwere chemageneti nekuda kwekuchinja kwechromosome. Inoonekwa mune vese varume nevakadzi. Inogona kukura mumwana kana mumwe mubereki akatakura geni rechirwere. Mune gumi kubva muzana kusvika makumi matatu muzana ezviitiko, vabereki havatakure geni.

Facioscapulohumeral muscular dystrophy ndeimwe yemhando dzakajairika dzemhasuru dystrophy inobata 1 mu15,000 kusvika 1 muvakuru zviuru makumi maviri muUnited States. Inobata varume nevakadzi zvakaenzana.

Varume vanowanzove nezviratidzo zvakawanda kupfuura vakadzi.

Facioscapulohumeral muscular dystrophy inowanzo bata kumeso, pabendekete, uye mhasuru dzepamusoro dzeruoko. Nekudaro, inogona zvakare kukanganisa mhasuru dzakatenderedza chiuno, chiuno, uye gumbo repazasi.

Zviratidzo zvinogona kuoneka mushure mekuzvarwa (fomu yehucheche), asi kazhinji hazviwoneki kusvika pazera regumi kusvika makumi maviri nematanhatu. Zvisinei, hazvishamise kuti zviratidzo zvionekwe zvakanyanya mushure mehupenyu. Mune zvimwe zviitiko, zviratidzo hazvimbomiri.

Zviratidzo zvinowanzo nyoro uye zvishoma nezvishoma zvichinyanya kukura. Tsvina kushaya simba kwechiso zvakajairika, uye zvinogona kusanganisira:

• Eyelid ichinyura
• Kusakwanisa kuridza muridzo nekuda kwekushaya simba kwemhasuru dzedama
• Kupera kwekuratidzwa kwechiso nekuda kwekushaya simba kwemhasuru yechiso
• Kushungurudzika kana kutsamwa kumeso kumeso
• Zvakaoma kududza mazwi
• Zvakaoma kusvika pamusoro pefudzi

Papfudzi tsandanyama kushaya simba kunokonzeresa hurema senge anotaurwa mafudzi mashizha (scapular mapapiro) uye akatsvedza mapfudzi. Munhu wacho anonetseka kusimudza maoko nekuda kwefudzi uye ruoko mhasuru kushaya simba.

Kushaya simba kwemakumbo epazasi zvinogoneka sezvo kusagadzikana kuri kuwedzera. Izvi zvinokanganisa kugona kutamba mitambo nekuda kwekudzikira kwesimba uye nehuremu hwakadzikama. Iko kushaya simba kunogona kuve kwakakomba zvakakwana kuti kukanganise kufamba. Chikamu chidiki chevanhu vanoshandisa wiricheya.

Kurwadziwa kusingaperi kuripo mu50% kusvika 80% yevanhu vane mhando iyi yemuscular dystrophy.

Kunzwa kurasikirwa uye zvisina kujairika moyo mutinhimira kunogona kuitika asi kushoma.

Kuongorora kwemuviri kunoratidza kushaya simba kwechiso nemhasuru dzemapendekete pamwe nekukwirisa mapapiro. Kushaya simba kwemhasuru dzekumashure kunogona kukonzera scoliosis, nepo kushomeka kwemhasuru yemudumbu kungave iko kunokonzeresa dumbu. Kuwedzera kweropa kunogona kucherechedzwa, asi kazhinji kuri munyoro. Kuongorora kweziso kunogona kuratidza shanduko mumidziyo yeropa kumashure kweziso.

Miedzo inogona kuitwa inosanganisira:

• Creatine kinase test (inogona kunge yakati kurei)
• Kuongororwa kweDNA
• Electrocardiogram (ECG)
• EMG (chisarudzo chemagetsi)
• Fluorescein angiography
• Genetic kuyedza kwechromosome 4
• Kunzwa bvunzo
• Tsvina biopsy (inogona kusimbisa kuongororwa)
• Kuongorora kwekuona
• Kuedza kwemoyo
• X-ray yemuzongoza kuti uone kana paine scoliosis
• Pulmonary basa bvunzo

Parizvino, facioscapulohumeral muscular dystrophy inoramba isingarapike. Mishonga inopihwa kudzora zviratidzo uye kugadzirisa hupenyu. Chiitiko chinokurudzirwa. Kusashanda sekurara pamubhedha kunogona kuita kuti chirwere chetsandanyama chiwedzere.

Kurapa kwepanyama kunogona kubatsira kuchengetedza simba remhasuru. Zvimwe zvinogona kurapwa zvinosanganisira:

• Basa rekurapa kubatsira kuvandudza zviitiko zveupenyu hwezuva nezuva.
• Oral albuterol kuwedzera mhasuru (asi kwete simba).
• Kurapa kwekutaura.
• Kuvhiya kugadzirisa mapapiro mapapiro.
• Rubatsiro rwekufamba netsoka dzekutsigira tsoka kana paine kushomeka kwemakumbo.
• BiPAP kubatsira kufema. Oxygen chete inofanira kudzivirirwa kune varwere vane yakakwira CO2 (hypercarbia).
• Counselling services (chiremba wepfungwa, chiremba wezvepfungwa, mushandi wezvemagariro).

Kuremara kunowanzo kuve kushoma. Hupenyu hwakawanda kazhinji hahuvhiringidzike.

Zvinetso zvinogona kusanganisira:

• Kuderera kwekufamba.
• Kuderera kwekugona kuzvitarisira.
• Kuremara kwechiso nemapfudzi.
• Kunzwa kurasikirwa.
• Kuona kurasikirwa (kushoma).
• Kufema kusakwana. (Iva nechokwadi chekutaura nemubatsiri wako wehutano usati wawana anesthesia.)

Fonera waunopa kana zviratidzo zveichi mamiriro zvichikura.

Genetic counselling inokurudzirwa kune vakaroorana vane nhoroondo yemhuri yechirwere ichi vanoshuvira kuve nevana.

Landouzy-Dejerine tsandanyama dystrophy

• Mashura epamberi epamusoro

Bharucha-Goebel DX. Tsandanyama dystrophies. Mune: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsamba 627.

Preston DC, Shapiro BE. Proximal, distal, uye zvakajairika kushaya simba. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chitsiko 27.

Warner WC, Sawyer JR. Neuromuscular kusagadzikana. Mu: Azar FM, Beaty JH, Kanale ST, eds. Kushanda kwaCampbell Orthopedics. 13 ed. Philadelphia, PA: Elsevier; 2017: chits. 35.