Web Results
omim.org/entry/253300

All types are caused by recessive mutations in the SMN1 gene. Lunn and Wang (2008) provided a detailed review of clinical features, molecular pathogenesis, and ...

www.urmc.rochester.edu/neurology/sma/about/genetics.aspx

A gene is a particular sequence of DNA, found on a chromosome containing a particular set of instructions. The gene for SMA is called survival motor neuron (SMN) ...

www.childrenshospital.org/conditions-and-treatments/conditions/s/spinal-muscular-atrophy-sma

Spinal muscular atrophy (SMA) is a rare genetic condition that weakens muscles. Learn more a gene therapy treatment for SMA at Boston Children's Hospital.

www.zolgensma.com/what-is-spinal-muscular-atrophy

SMA is a progressive, rare genetic disease that is caused by the survival motor neuron 1 (SMN1) gene that is missing or not working properly. Learn more about ...

kidshealth.org/en/parents/sma.html

A child who gets the SMN1 gene from only one parent probably won't show any signs of SMA, but could pass the gene to his or her kids. Genetic testing of people ...

www.nature.com/articles/s41434-021-00273-7

Jul 19, 2021 ... Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder and the most common fatal inherited disease of infancy resulting ...

patienteducation.asgct.org/disease-treatments/sma

Sep 13, 2021 ... Spinal Muscular Atrophy (SMA) is a rare genetic disease that affects the motor nerve cells in the spinal cord and is the leading genetic ...

www.ucsfhealth.org/education/faq-carrier-testing-for-spinal-muscular-atrophy

SMA is a genetic condition. Our genes come in pairs, with one copy inherited from each parent. Some genes have mutations in them, and do not function properly.

en.wikipedia.org/wiki/Spinal_muscular_atrophy

Spinal muscular atrophy is due to an abnormality (mutation) in the SMN1 gene which encodes SMN, a protein necessary for survival of ...

www.betterhealth.vic.gov.au/health/conditionsandtreatments/spinal-muscular-atrophy-sma

SMA is a genetic condition caused by a change in a gene called 'survival motor neuron 1' (SMN1).

medlineplus.gov/genetics/condition/spinal-muscular-atrophy

Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy ) in muscles used for movement (skeletal muscles).