Communicating a Failure to Communicate

Researchers discover gene for Congenital Myasthenic Syndrome, which disrupts signals between brain and muscles

/ Author:  / Reviewed by: Joseph V. Madia, MD

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

Scientists have discovered a gene that will allow for the rapid diagnosis of Congenital Myasthenic Syndrome (CMS), a rare, debilitating neuromuscular disorder affecting about 1 in 500,000 births.

The gene, known as GFPT1, tends to develop in the first 10 years of life and signifies CMS, which 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.
 

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Last Updated:
February 14, 2011