Recent therapeutic developments of spinal muscular atrophy

Bora, Gamze; Yeşbek-Kaymaz, Ayşe; Bekircan-Kurt, Can Ebru; Haliloğlu, Vildan Göknur; Topaloğlu, Haluk; Erdem‐Yurter, Hayat; Erdem-Özdamar, Sevim

doi:10.3906/sag-1712-1

Turk J Med Sci

2018

DOI: 10.3906/sag-1712-1

|View full text |Cite

Recent therapeutic developments of spinal muscular atrophy

Gamze Bora¹,

Ayşe Yeşbek-Kaymaz²,

Can Ebru Bekircan-Kurt³

et al.

Abstract: Proximal spinal muscular atrophy (SMA) is an inherited neurodegenerative disease with a heterogeneous clinical phenotype. Although there is no cure for SMA, several strategies are currently being developed. In this review, we summarize the ongoing clinical trials and molecular mechanisms of successful approaches to SMA treatment.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2023

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 70 publications

(98 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

Changes in the Treatment of Spinal Muscular Atrophy

Momoki

2023

Nichidai Igaku Zasshi

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA) is a lower motor neuron disease that causes muscle atrophy and progressive muscle weakness due to degeneration and loss of spinal cord anterior horn cells. SMA was first described in 1891, and the survival motor neuron1 gene was identified as the cause in 1995. The prevalence of SMA is 1-2/100,000, and the carrier frequency is 1/40-60.The onset of the disease ranges from prenatal to adulthood and is classified into 5 groups (types 0-IV) based on age of disease onset and archived motor functions. Type I onset in infancy is characterized by decreased muscle tone, loss of tendon reflexes, and decreased voluntary movements of the proximal limbs and trunk from approximately 1 to 3 months of age. Sitting posture is not acquired throughout life. As muscle weakness progresses, respiratory function declines, and ventilatory management is introduced at an average age of 6 months. Without ventilatory management, 90% of children die by the age of 2 years due to respiratory infections. There is no treatment other than symptomatic treatment, such as tracheostomy and ventilatory management at home, and it has been considered one of the most serious diseases in the field of pediatric neurology.Recently, international clinical trials have resulted in the development of nusinersen, a nucleic acid drug, onasemnogene abeparvovec, a gene therapy drug, and risdiplam, a small molecule drug. These new therapies have dramatically changed SMA practice. They have halted the progression of symptoms and have the potential to improve not only life expectancy but also neurological prognosis. It is also now possible to prevent the onset of the disease itself by administering the drug before onset. It is becoming more important to diagnose the disease at an earlier stage and to detect and treat the disease before it develops through newborn mass screening.

show abstract

Changes in the Treatment of Spinal Muscular Atrophy

Momoki

2023

Nichidai Igaku Zasshi

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Recent therapeutic developments of spinal muscular atrophy

Cited by 1 publication

References 70 publications

Changes in the Treatment of Spinal Muscular Atrophy

Changes in the Treatment of Spinal Muscular Atrophy

Contact Info

Product

Resources

About