Duchenne muscular dystrophy

Duchenne muscular dystrophy chirwere chakagarwa muscular chirwere. Inosanganisira kushaya simba kwemhasuru, iyo inokurumidza kuwedzera kuipa.

Duchenne muscular dystrophy chimiro che muscular dystrophy. Inokurumidza kukurumidza. Mimwe tsandanyama dystrophies (kusanganisira Becker muscular dystrophy) inowedzera kuwedzera zvishoma nezvishoma.

Duchenne muscular dystrophy inokonzerwa neyakaremara gene ye dystrophin (puroteni mumhasuru). Nekudaro, zvinowanzoitika muvanhu vasina nhoroondo yemhuri inozivikanwa yemamiriro acho.

Mamiriro acho anowanzo bata vakomana nekuda kwenzira iyo chirwere ichi chinogarwa nhaka. Vanakomana vevakadzi vanotakura chirwere ichi (vakadzi vane jini rakaremara, asi vasina zviratidzo ivo pachavo) mumwe nemumwe ane mukana we50% wekuve nechirwere. Ivo vanasikana mumwe nemumwe ane 50% mukana wekuva vatakuri. Kashoma, mukadzi anogona kubatwa nechirwere ichi.

Duchenne muscular dystrophy inoitika mune angangoita 1 pavane 3600 vacheche vese vechirume. Nekuti ichi chirwere chakagara nhaka, njodzi dzinosanganisira nhoroondo yemhuri yeDuchenne muscular dystrophy.

Zviratidzo zvinowanzoonekwa pamberi pemakore 6. Vanogona kuuya vachiri vacheche. Vazhinji vakomana havaratidze zviratidzo mumakore ekutanga ehupenyu.

Zviratidzo zvinogona kusanganisira:

• Kuneta
• Kudzidza matambudziko (iyo IQ inogona kunge iri pazasi pe75)
• Kuremara kwehungwaru (zvinogoneka, asi hazviwedzere kukura nekufamba kwenguva)

Tsvina kushaya simba:

• Inotanga mumakumbo uye muchiuno, asi zvakare inoitika zvishoma zvakanyanya mumaoko, mutsipa, uye nedzimwe nzvimbo dzemuviri
• Zvinetso nehunyanzvi hwemotokari (kumhanya, kusvetuka, kusvetuka)
• Kakawanda kuwira
• Dambudziko rekusimuka kubva pakureva nhema kana kukwira masitepisi
• Kupfupika kwemweya wekufema, kuneta uye kuzvimba kwetsoka nekuda kwekuneta kwemhasuru yemoyo
• Dambudziko kufema nekuda kwekushomeka kwemhasuru yekufema
• Zvishoma nezvishoma kuwedzera kwemhasuru kushaya simba

Kufambira mberi kunetseka kufamba:

• Kugona kufamba kunogona kurasikirwa nezera regumi nemaviri, uye mwana anofanirwa kushandisa wiricheya.
• Kufema kunetseka uye chirwere chemwoyo chinowanzotanga nezera makumi maviri.

Iyo yakazara yetsinga system (neurological), moyo, mapapu, uye bvunzo yemhasuru inogona kuratidza:

• Asina kujairika, anorwara moyo mhasuru (cardiomyopathy) inova inoonekwa nezera regumi.
• Kuvhiringidzika kwemoyo kukundikana kana kusagadzikana kwemoyo rhythm (arrhythmia) iripo mune vese vanhu vane Duchenne muscular dystrophy pazera remakore gumi nemasere.
• Kukanganisa kwechifuva uye kumashure (scoliosis).
• Akawedzera mhasuru yemhuru, magaro, nemapfudzi (kutenderera makore mana kana mashanu). Iyi mhasuru inozopedzisira yatsiviwa nemafuta uye inobatanidza nyama (pseudohypertrophy).
• Kurasikirwa kwemhasuru (kutambisa).
• Tsandanyama contractures muzvitsitsinho, makumbo.
• Tsvina dzakaremara.
• Matambudziko ekufema, anosanganisira mabayo uye kumedza nechikafu kana mvura inopinda mumapapu (munguva dzekupedzisira dzechirwere).

Miedzo inogona kusanganisira:

• Electromyography (EMG)
• Genetic bvunzo
• Tsvina biopsy
• Serum CPK

Iko hakuna kurapwa kunozivikanwa kweDuchenne muscular dystrophy. Kurapa kunovavarira kudzora zviratidzo zvekuvandudza hupenyu.

Steroid zvinodhaka zvinogona kudzora kurasikirwa kwesimba mhasuru. Dzinogona kutanga kana mwana achionekwa kana simba remhasuru parinotanga kudzikira.

Mimwe mishonga inogona kusanganisira:

• Albuterol, mushonga unoshandiswa kune vanhu vane asthma
• Amino acids
• Carnitine
• Coenzyme Q10
• Zvisikwa
• Mafuta ehove
• Green tii inotora
• Vhitamini E

Zvisinei, migumisiro yemishonga iyi haina kuratidzwa. Masero emashizha uye kurapwa kwemajini kunogona kushandiswa mune ramangwana.

Iko kushandiswa kwesteroids uye kushomeka kwechiitiko chemuviri kunogona kutungamira kukuwedzeredza kuwedzera uremu. Chiitiko chinokurudzirwa. Kusashanda (senge bedrest) kunogona kuita kuti chirwere chetsandanyama chiwedzere. Kurapa kwepanyama kunogona kubatsira kuchengetedza simba remhasuru uye basa. Kurapa kwekutaura kunowanzodiwa.

Mimwe mishonga inogona kusanganisira:

• Inobatsira kufefetedza (inoshandiswa masikati kana husiku)
• Zvinodhaka kubatsira moyo kushanda, senge angiotensin inoshandura enzyme inhibitors, beta blockers, uye diuretics
• Orthopedic zvishandiso (senge brace uye mawiricheya) kusimudzira kufamba
• Kuvhiyiwa kwepine kurapa kufambira mberi scoliosis kune vamwe vanhu
• Proton pump inhibitors (kune vanhu vane gastroesophageal reflux)

Mimwe mishonga mitsva yekurapa iri kuongororwa mumiedzo.

Unogona kudzikisira kushushikana kwehurwere nekujoinha boka rekutsigira uko nhengo dzinogovana zvakajairika matambudziko nematambudziko. Iyo Muscular Dystrophy Association chinhu chakanakisa sosi yeruzivo nezve chirwere ichi.

Duchenne muscular dystrophy inotungamira mukuwedzera kuwedzera hurema. Rufu runowanzoitika nezera makumi maviri neshanu, kazhinji kubva pamatambudziko emapapu. Nekudaro, kufambira mberi mukutarisira kwekutsigira kwakakonzera kuti varume vazhinji vararame kwenguva yakareba.

Zvinetso zvinogona kusanganisira:

• Cardiomyopathy (inogona zvakare kuitika mune vechikadzi vanotakura, avo vanofanirwawo kuongororwa)
• Congestive moyo kutadza (kushoma)
• Kuremara
• Mwoyo arrhythmias (zvisingawanzoitika)
• Kukanganisa kwepfungwa (zvinosiyana, kazhinji kushoma)
• Kugara zvachose, hurema hunofambira mberi, kusanganisira kudzikira kwekufamba uye kudzikira kwekugona kuzviriritira
• Pneumonia kana zvimwe zvirwere zvekufema
• Kukundikana kwekufema

Fonera wako mupi wezvehutano kana:

• Mwana wako ane zviratidzo zveDuchenne muscular dystrophy.
• Zviratidzo zvinowedzera, kana zviratidzo zvitsva zvinokura, kunyanya fivha ine chikosoro kana matambudziko ekufema.

Vanhu vane nhoroondo yemhuri yechirwere vangangoda kutsvaga kwehungwaru. Dzidzo yegenetic inoitwa panguva yekuzvitakura yakanyatsojeka pakuona Duchenne muscular dystrophy.

Pseudohypertrophic muscular dystrophy; Muscular dystrophy - mhando yeDuchenne

• X-yakabatanidzwa yakawandisa majini kusakwana - mashandisiro anoita vakomana
• X-yakabatanidzwa yakawandisa majini kukanganisa

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.

Muscular Dystrophy Association webhusaiti. www.mda.org/disease/duchenne-muscular-dystrophy. Yakasvika Gumiguru 27, 2019.

Selcen D. Zvirwere zvetsandanyama. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 26th ed. Philadelphia, PA: Elsevier; 2020: chitsiko 393.

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.