DNA And Logo Here is some good news for clinicians treating patients suffering from an inherited neuromuscular condition. Newcastle University researchers have now found out a novel gene that speeds up diagnosis and earlier treatment for a debilitating neuromuscular condition. The gene named GFPT1 apparently plays a pivotal role in causing a variation of Congenital Myasthenic Syndrome (CMS).

GFPT1 supposedly tends to develop within the first ten years of life among patients losing muscle strength as well as control in their hips and shoulders or arms and legs. Identifying this gene may help physicians to affirm the presence of the disease without subjecting patients to an earlier treatment with cholinesterase inhibitors. Also therapies designed to tackle the ailment with the assistance of this gene can reportedly aid a wide number of people all over the world.

As a part of the investigation, genes of 13 families affected by the disorder were thoroughly assessed. It was mentioned that GFPT1 is involved in the initiation of amino sugar metabolism. Professor Hanns Lochmüller of the Institute of Human Genetics at Newcastle University and colleagues presume that understanding this ailment in detail can open doors to unique medications for treating patients with inherited neuromuscular condition.

The research is published in The American Journal of Human Genetics.