NDDRF knowledgebase

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting.[1][2][3] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death.[4] It may also appear later in life and then have a milder course of the disease.

The common feature is progressive weakness of voluntary muscles, with arm, leg and respiratory muscles being affected first.[5][6] Associated problems may include poor head control, difficulties swallowing, scoliosis, and joint contractures.[7][6]

[1]"Spinal muscular atrophy". nhs.uk. 23 October 2017. Retrieved 24 October 2020.
[2]"Spinal muscular atrophy: MedlinePlus Genetics". medlineplus.gov. Retrieved 24 October 2020. Emedicine.medscape.com. Retrieved 2016-11-13.
[3]"Spinal Muscular Atrophy (SMA) | Boston Children's Hospital". www.childrenshospital.org. Retrieved 25 October 2020.
[4]"FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality". FDA. 24 May 2019. Retrieved 27 May 2019.
[5]"Spinal Muscular Atrophy Fact Sheet | National Institute of Neurological Disorders and Stroke". NINDS. Retrieved 27 May 2019.
[6]"Spinal muscular atrophy". Genetics Home Reference. Retrieved 27 May 2019.
[7]"Spinal Muscular Atrophy". NORD (National Organization for Rare Disorders). Retrieved 27 May 2019.