New hope in ‘floppy baby’ treatment

Scientists have made a breakthrough in developing treatment for the most common genetic cause of death in children.

Researchers at the University of Edinburgh have found that infants suffering from a form of motor neurone disease could benefit from drugs that could improve their muscle strength.

Spinal muscular atrophy (SMA), also known as floppy baby syndrome, targets the body’s nerve cells, causing patients to have little or no control over their movements.

Children with SMA also suffer from unhealthy muscles, but tests carried out by the research team found the damage can be reversed.

Tom Gillingwater, professor of neuroanatomy at the University of Edinburgh, led the study.

“Spinal muscular atrophy is the most common genetic cause of death in children,” he said.

“By showing the important role that muscles play in this disease, we can now focus our efforts on trying to block the disease in all affected tissues of the body.”

The research team said SMA is incurable and often fatal, with 50% of the most severe cases resulting in death by the age of two.

The disease affects one in 6,000 births, and one in 40 people carry the genetic mutation that causes it.

Experts say patients’ muscles are damaged by them having low levels of a protein called SMN. This also disrupts the muscles’ blood supply, leading to further damage.

The scientists who conducted the study took mice with SMA and treated them with a class of drugs known as HDAC inhibitors. The drugs increased the levels of SMN protein in muscle.

The study was published in the Human Molecular Genetics and Neuromuscular Disorders journals.