Communicating a Failure to Communicate

Newcastle University scientists have identified a new gene which will allow rapid diagnosis and earlier treatment of a debilitating neuromuscular condition

Congenital Myasthenic Syndrome (CMS), is a rare, debilitating neuromuscular disorder affecting about 1 in 500,000 births.

Known as GFPT1, the gene tends to develop in the first 10 years of life and signifies CMS is present. Congenital Myasthenic Syndrome (CMS) affects the way signals travel between the brain and muscles, causing paralysis and sometimes death. Patients lose muscle strength and control in their hips and shoulders or arms and legs.

Professor Hanns Lochmüller of the Institute of Human Genetics at Newcastle University said the gene's discovery means physicians can order genetic analysis and confirm the condition. This confirmation allows for earlier, potentially more effective treatment with cholinesterase inhibitors, which are used to increase neuromuscular transmission and function.

Researchers analyzed the genes of 13 families affected by CMS to find GFPT1.

Congenital Myasthenic Syndrome symptoms include weakness that increases with activity, droopy eyelids, curvature of the spine (scoliosis), and feeding and respiratory problems. These symptoms usually begin shortly after birth or before adolescence.