Long before, muscular dystrophy has been regarded as a hereditary condition characterized by a group of rare muscle-wasting diseases with a wide range of biological features, symptoms, and genetic origins. Experts say that in order to obtain a precise diagnosis and offer appropriate genetic counseling, doctors should firstly be able to conduct series of clinical, biochemical, and genetic tests. Now, a new study has recently found that mutations taking place in the gene named as INPP5K, allegedly causes a new type of congenital muscular dystrophy that presents with short stature, intellectual disability, and cataracts.

The New Type Of Congenital Muscular Dystrophy

According to reports revealed by Medical News Today, even before, there are really several types of muscular dystrophy, depending on the particular genes that are involved. These types of muscular dystrophy is then considered to affect different muscle groups, the severity of impairment, and the age at which signs and symptoms first appear. Apparently, here in the new study, it was found that it highlights congenital muscular dystrophy, a type that becomes apparent at or near birth. Babies born with the disease are weak at birth and may have difficulties swallowing or breathing.

Meanwhile, co-corresponding author for the study, Chiara Manzini, Ph.D., who also happens to be an assistant professor in the GW Institute for Neuroscience and in pharmacology & physiology at the GW School of Medicine and Health Sciences, said that the average pediatrician may only see one child with a rare disorder in his or her entire career. The good news is, Prof. Manzini has claimed that from a research standpoint, they would be able to develop new, targeted therapies to help these patients.

Study Proposition

Furthermore, as per News Medical Life Sciences, Manzini said that now that they were able to to identify the genetic mutation, they now aim to discover as to why the disruption in the gene causes this disorder. The experts has revealed that the unique mechanism of this gene could potentially help them in developing certain therapies that they have not thought about before, and may move research in a different direction. Ultimately, it was also found that the study has been published in the American Journal of Human Genetics.