Congenital Muscular Dystrophy: Everything You Need To Know About The New Condition
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.
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.
Elon Musk Is Working On A Consensual Telepathy; Latest Details Inside
Elon Musk has confirmed that Neuralink is real and that he is serious about the technology. The firm will soon develop a “neural lace” technology that would involve implanting tiny brain electrodes.
Health Experts Alarmed About The Rise In STD Cases In South Carolina
Considering the ever growing cases of HIV/Aids all over the world, what's the truth behind claims that health experts have expressed their fear and concern over the rise in teen STD rate? Does this rise in number imply something significant? Here's what health professionals have to say
Is China Competing With NASA? Find Out What China's Warp-Drive Technology Can Do
With the continuous efforts of NASA in conducting various spae missions, is still not enough to learn about the unknown? What's the truth behind claims that China has allegedly developed what NASA thought to be an 'impossible' warp-drive technology? What are its abilities in te first place? Here's what authorities have to say
Play Safe To Stop HIV/AIDS Spread; Check NACA’s Advisory This Valentine's Day
Considering that it’s a few days away till Valentine’s Day, how essential is it for us to know how to prevent Aids/HIV from ever taking place? How significant is the advisory released by NACA about the prevention of these dreaded disease? Find out what authorities have to say
Neutrophil Extracellular Traps: Could It Be The Answer To Multiple Sclerosis?
As the number of Multiple Sclerosis is swiftly rising, experts across the world have yet to determine the cure to the auto-immune disease. But why does MS research Australia support the study about neutrophil extracellular traps? Could it finally be the answer to the long dreaded disease? Here’s what health professionals have to say
This Diabetes Drug Can Also Reduce Heart Problem
As diabetes becomes one of the leading illnesses in the world, is the cure to eradicate the condition finally discovered? What's the truth behind claims the diabetes drug that doesn't just have the ability to allegedly cut the sugar in the patient's body but also reduce the risks brought by heart problems? Find out what health professionals have to say
MORE IN ITECHPOST
'Tokyo Ghoul' Season 3 Delayed By Its Live-Action Movie? Ken Kenaki Returns With Another Identity?
"Tokyo Ghoul" season 3's release is delayed and there are countless speculations as to why it is being pushed back. Reports claim that the show is to give way to "One Punch Man" and "My Hero Acdemia" but new rumors say that it's lack of materials and storyline as well as its live-action movie are causing the delay.