里斯地普兰治疗脊髓性肌萎缩症。

IF 3.4 Q2 PHARMACOLOGY & PHARMACY Australian Prescriber Pub Date : 2022-08-01 Epub Date: 2022-07-07 DOI:10.18773/austprescr.2022.041

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Risdiplam for spinal muscular atrophy.

The most common form of spinal muscular atrophy is due to mutations in a gene located on chromosome 5. This is sometimes referred to as 5q SMA. As a result of the mutation there is reduced production of survival motor neuron (SMN) protein. This leads to progressive muscle weakness. The most frequent type of spinal muscular atrophy (SMA1) presents in babies as hypotonia, poor head control and impaired swallowing. Due to neuromuscular weakness, respiratory support will be needed and life expectancy is usually under two years.

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来源期刊

Australian Prescriber MEDICINE, GENERAL & INTERNAL-PHARMACOLOGY & PHARMACY

CiteScore

3.80

自引率

7.40%

发文量

审稿时长

>12 weeks

期刊介绍： Australian Prescriber is Australia''s free, national, independent journal of drugs and therapeutics. It is published every two months online. Our purpose is to help health professionals make informed choices when prescribing, including whether to prescribe a drug or not. To do this we provide independent, reliable and accessible information. As well as publishing short didactic reviews, we facilitate debate about complex, controversial or uncertain therapeutic areas. We are part of NPS MedicineWise, an independent, non-profit organisation providing medicines information and resources for health professionals, and stakeholders involved in the quality use of medicines. NPS MedicineWise is funded by the Australian Government Department of Health.

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