I-Facioscapulohumeral dystrophy yemisipha

I-Facioscapulohumeral muscular dystrophy ubuthakathaka bemisipha nokulahleka kwezicubu zemisipha eziya ziba zimbi ngokuhamba kwesikhathi.

I-Facioscapulohumeral muscular dystrophy ithinta imisipha yomzimba engenhla. Akufani neDuchenne muscular dystrophy neBecker muscular dystrophy, ethinta umzimba ongezansi.

I-Facioscapulohumeral muscular dystrophy yisifo sofuzo ngenxa yokuguquka kwe-chromosome. Kubonakala kwabesilisa nabesifazane. Kungakhula enganeni uma ngabe omunye umzali ephethe isakhi sokuphazamiseka. Ku-10% kuya ku-30% wamacala, abazali abasiphathi isakhi sofuzo.

I-Facioscapulohumeral muscular dystrophy ingenye yezindlela ezivame kakhulu ze-muscle dystrophy ezithinta umuntu oyedwa kwabangu-15,000 kuya kwabangu-1 kwabadala abangama-20 000 e-United States. Ithinta abesilisa nabesifazane ngokulinganayo.

Abesilisa bavame ukuba nezimpawu eziningi kunabesifazane.

I-Facioscapulohumeral muscular dystrophy ithinta kakhulu ubuso, ihlombe, kanye nemisipha yengalo ephezulu. Kodwa-ke, ingathinta nemisipha ezungeze okhalweni, okhalweni nasemlenzeni ophansi.

Izimpawu zingavela ngemuva kokuzalwa (ifomu lezinsana), kepha imvamisa aziveli kuze kube yiminyaka eyi-10 kuya kwengama-26. Kodwa-ke, akuvamile ukuthi izimpawu zivele kamuva kakhulu empilweni. Kwezinye izimo, izimpawu azikaze zivele.

Izimpawu zivame ukuba mnene futhi kancane kancane ziba zimbi kakhulu. Ubuthakathaka bemisipha ebusweni buvamile, futhi bungafaka:

• Ijwabu lehla
• Ukungakwazi ukushaya ikhwela ngenxa yobuthakathaka bemisipha yesihlathi
• Ukuncipha kobuso ngenxa yobuthakathaka bemisipha yobuso
• Isimo sobuso esidangele noma esithukuthele
• Kunzima ukuphimisa amagama
• Kunzima ukufinyelela ngaphezu kwezinga lehlombe

Ubuthakathaka bemisipha ehlombe kubangela ukukhubazeka njengamaphiko amahlombe abiziwe (amaphiko aphikisayo) namahlombe axegayo. Umuntu unenkinga yokuphakamisa izingalo ngenxa yobuthakathaka behlombe nengalo yengalo.

Ubuthakathaka bemilenze engezansi kungenzeka njengoba lesi sifo siba sibi kakhulu. Lokhu kuphazamisa ikhono lokudlala imidlalo ngenxa yokwehla kwamandla nokulinganisela okungalungile. Ubuthakathaka bungaba bukhulu ngokwanele ukuphazamisa ukuhamba. Amaphesenti amancane abantu asebenzisa isihlalo sabakhubazekile.

Ubuhlungu obungapheli bukhona kuma-50% kuya ku-80% wabantu abanalolu hlobo lwe-muscular dystrophy.

Ukuzwa ukulahleka kanye nesigqi senhliziyo esingajwayelekile kungavela kepha akuvamile.

Ukuhlolwa komzimba kuzobonisa ubuthakathaka bemisipha yobuso nehlombe kanye ne-wing scapular. Ubuthakathaka bemisipha yangemuva kungadala i-scoliosis, kanti ubuthakathaka bemisipha yesisu kungaba yimbangela yesisu esixegayo. Umfutho wegazi ophakeme ungaqashelwa, kepha imvamisa ubumnene. Ukuhlolwa kwamehlo kungakhombisa ushintsho emithanjeni yegazi ngemuva kweso.

Ukuhlolwa okungenziwa kufaka phakathi:

• Ukuhlolwa kwe-Creatine kinase (kungahle kuphakame kancane)
• Ukuhlolwa kwe-DNA
• I-Electrocardiogram (ECG)
• I-EMG (i-electromyography)
• I-Fluorescein angiography
• Ukuhlolwa kofuzo kwe-chromosome 4
• Ukuhlolwa kokuzwa
• Imisipha biopsy (ingaqinisekisa ukuxilongwa)
• Ukuhlolwa okubonakalayo
• Ukuhlolwa kwenhliziyo
• Ama-X-ray womgogodla ukuthola ukuthi kukhona yini i-scoliosis
• Ukuhlolwa komsebenzi wePulmonary

Njengamanje, i-facioscapulohumeral muscular dystrophy isalapheki. Ukwelashwa kunikezwa ukulawula izimpawu nokuthuthukisa ikhwalithi yempilo. Umsebenzi uyakhuthazwa. Ukungasebenzi njengendawo yokulala kungenza isifo semisipha sibe sibi kakhulu.

Ukwelashwa ngokomzimba kungasiza ekugcineni amandla emisipha. Okunye ukwelashwa okungenzeka kufaka:

• Ukwelashwa emsebenzini ukusiza ukuthuthukisa imisebenzi yokuphila kwansuku zonke.
• I-Oral albuterol yokwandisa ubukhulu bemisipha (kepha hhayi amandla).
• Ukwelashwa kwenkulumo.
• Ukuhlinzwa ukulungisa i-scapula enamaphiko.
• Izinsiza zokuhamba nezinsiza zokuxhasa izinyawo uma kunobuthakathaka beqakala.
• BiPAP ukusiza ukuphefumula. I-oksijeni yodwa kufanele igwenywe ezigulini ezine-CO2 ephezulu (hypercarbia).
• Izinsizakalo zokwelulekwa (udokotela wezifo zengqondo, isazi sokusebenza kwengqondo, usonhlalakahle).

Ukukhubazeka kuvame ukuba kuncane. Isikhathi sokuphila kaningi asithinteki.

Izinkinga zingafaka:

• Ukuhamba okunciphile.
• Ukwehla kwekhono lokuzinakekela.
• Ukukhubazeka kobuso namahlombe.
• Ukulahlekelwa ukuzwa.
• Ukulahleka kombono (okungajwayelekile).
• Ukungakwazi ukuphefumula. (Qiniseka ukuthi ukhuluma nomhlinzeki wakho wezokunakekelwa kwempilo ngaphambi kokuba ube ne-anesthesia ejwayelekile.)

Shayela umhlinzeki wakho uma kuvela izimpawu zalesi simo.

Ukwelulekwa ngofuzo kunconyelwa imibhangqwana enomlando womndeni walesi sifo efisa ukuba nezingane.

I-Landouzy-Dejerine muscular dystrophy

• Imisipha yangaphandle engaphezulu

I-Bharucha-Goebel DX. Ama-dystrophies emisipha. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 627.

UPreston DC, uShapiro BE. Ubuthakathaka obunamandla, obude, nobubanzi. Ku: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, ama-eds. I-Neurology kaBradley ekwenziweni kwemitholampilo. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2016: isahluko 27.

I-Warner WC, iSawyer JR. Izinkinga ze-Neuromuscular. Ku: Azar FM, Beaty JH, Kanale ST, ama-eds. I-Operational Orthopedics yaseCampbell. Umhlaka 13. IPhiladelphia, PA: Elsevier; 2017: isahluko 35.