Puas yog facioscapulohumeral muscular dystrophy tshwm sim?
Puas yog facioscapulohumeral muscular dystrophy tshwm sim?

Video: Puas yog facioscapulohumeral muscular dystrophy tshwm sim?

Video: Puas yog facioscapulohumeral muscular dystrophy tshwm sim?
Video: Fshd 2024, Lub Xya hli ntuj
Anonim

Facioscapulohumeral musculoskeletal dystrophy ( FSHD ) yog ib tau txais qub txeeg qub teg neuromuscular teeb meem uas ua rau tsis muaj zog feem ntau prominently nqaij nyob rau hauv lub ntsej muag, lub xub pwg hniav, thiab sab caj npab. Lub cheeb tsam ntawm tib neeg chromosomes uas ua rau FSHD muaj ib ntu nrog ntau qhov sib npaug ntawm DNA hu ua D4Z4 rov ua dua.

Yog li, yog Fshd hereditary?

FSHD tej zaum yuav tau txais qub txeeg qub teg los ntawm leej txiv lossis leej niam, lossis nws yuav tshwm sim yam tsis muaj tsev neeg keeb kwm. Qhov feem ntau tshwm sim ntawm FSHD yog a caj flaw (mutation) uas ua rau tsis tsim nyog qhia ntawm ob chav homeobox protein 4 noob (DUX4) ntawm chromosome 4, hauv cheeb tsam 4q35.

Kuj Paub, thawj cov tsos mob ntawm facioscapulohumeral muscular dystrophy yog dab tsi? Feem ntau cov neeg nrog FSHD ceeb toom tsis muaj zog nyob rau hauv cheeb tsam ntawm lub xub pwg hniav - lub scapulae - raws li cov ua ntej kos npe tias qee yam tsis raug.

Ib yam li ntawd, ntau npaum li cas yog facioscapulohumeral muscular dystrophy?

Facioscapulohumeral muscular dystrophy muaj kwv yees li ntawm 1 ntawm 20,000 tus neeg. Kwv yees li 95 feem pua ntawm tag nrho cov mob yog FSHD1; qhov seem 5 feem pua yog FSHD2.

Leej twg nrhiav tau facioscapulohumeral muscular dystrophy?

FSHD yog qhov tsis txaus ntseeg tseem ceeb hauv ntau txog li 90% ntawm cov neeg mob. Landouzy thiab Dejerine thawj zaug piav FSHD xyoo 1884. Tyler thiab Stephens tau piav txog ib tsev neeg loj ntawm Utah uas muaj 6 tiam neeg raug cuam tshuam.

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