Roche in spinal muscular atrophy (SMA)

Passion and partnership in a rare disease

Roche in spinal muscular atrophy

SMA is an autosomal recessive genetic disorder caused by reduced levels of SMN protein throughout the body, resulting from mutations in the survival motor neuron-1 (SMN1) gene. It affects approximately 1 in 10,000 babies born worldwide each year and is the most common genetic cause of death in infants.

It is a disease that robs people of their physical strength by affecting motor nerve cells, taking away the ability to walk, eat and even breathe.

Tags: Science, Patients, Neuroscience,