DataM Intelligence | competitive Intelligence Spinal Muscular Atrophy treatment is evolving fast, with gene therapy, oral drugs, and next-g ...

A blood test that can help diagnose Alzheimer’s disease has received clearance from the Food and Drug Administration. This is a step toward a goal of scientists and doctors to one day be able to ...

Spinal muscular atrophy (SMA) is a disorder affecting the motor neurons—nerve cells that control voluntary muscle movement. These cells are located in the spinal cord. Because the muscles cannot ...

A child with a rare genetic disorder — spinal muscular atrophy type I — was treated prenatally for the first time. Courtesy of Jakob Owens via Unsplash During an amniocentesis test, a long, thin ...

NEW YORK — Dutch diagnostics firm MRC Holland said Friday that two of its blood-based assays for spinal muscular atrophy (SMA) have been certified under Europe's In Vitro Diagnostic Regulation (IVDR).

The test had to be requested from a laboratory located outside the country to be conducted in the Dominican Republic. This testing confirmed SMA Type 1 by identifying a homozygous deletion in the SMN1 ...

This DNA will be tested for SMA. Amniocentesis. You can have this test 16 to 20 weeks into your pregnancy. Using an ultrasound for guidance, your doctor will insert a small needle into your abdomen.

The standard diagnostic testing for SMA is molecular genetic testing. 2,3 This widely available and cost-effective test is used to confirm the homozygous deletion in the SMN1 gene, present in 95% of ...

Spinal muscular atrophy (SMA), a rare genetic disease that affects the nervous system and muscles, is caused by mutations in the SMN1 gene. The SMN1 gene encodes for the SMN protein, which is ...

Spinal muscular atrophy (SMA) is the most common genetic cause of death in childhood. The disease is caused by loss of function mutations in the survival motor neuron 1 gene (SMN1) encoding SMN.

MANILA, Philippines—An advocate of awareness and care for Spinal Muscular Atrophy (SMA), a rare genetic disease, urged the Philippine government to make genetic testing accessible and affordable ...

A confirmatory diagnostic test demonstrates the presence of homozygous SMN1 mutations. This has a sensitivity of about 95% and almost 100% specificity.