A new form of congenital muscular dystrophy has been discovered which is caused by mutations in a previously un–linked gene.

The study was published in the American Journal of Human Genetics.

The discovery will allow a precise genetic diagnosis for a greater number of children affected by this condition, and help inform better clinical management.

The study, led by Dr Yalda Jamshidi from St George’s, University of London and Dr Chiara Manzini from George Washington University, examined the DNA of five individuals who were affected by early onset of a group of conditions including muscle weakness and an inability to stand or walk.

Other symptoms included cataracts, intellectual disability and short stature.

Although some of the symptoms varied between individuals, the results identified mutations in the same disease gene. Mutations in this gene – INPP5K – had not previously been reported.

To get a better idea of the gene’s role in development the researchers blocked the expression of the gene in zebrafish. They found that the fish then showed muscle damage and eye defects, similar to the features seen in the individuals with the mutations.

Dr Jamshidi said: “These findings can be used for diagnostic testing of people with symptoms similar to those described in this study and where the gene responsible for their condition is not known. If INPP5K is found to be the faulty gene, patients will get better guidance and more accurate information on their condition.”