Hypotonia News and Research

RSS

Hypotonia literally means loss of muscle tone. The condition was first described in 1956 among infants who were termed “floppy infants”. In healthy muscles some amount of stiffness or tension is always maintained even at rest. This can be assessed clinically as tone of the muscle.

Gene linked to rare progressive brain disease causes new kind of congenital disorder

A new kind of congenital disorder caused by a group of mutations in a gene previously linked only to a rare progressive brain disease has been discovered by an international team co-led by Saudi investigators.

20 May 2019

Mutations of IRF2BPL gene associated with previously undiagnosed neurological disorder

An international team of scientists, including researchers from Baylor College of Medicine, has discovered mutations of gene IRF2BPL that are associated with a previously undiagnosed neurological disorder in seven unrelated individuals.

27 Jul 2018

Researchers aim to reveal new direction for Barth syndrome treatment

The Barth Syndrome Foundation recently announced awardees from its 2017 grant cycle. Miriam Greenberg, Ph.D., professor of biological sciences in the College of Liberal Arts and Sciences at Wayne State University and a resident of Ann Arbor, Michigan, received a one-year, $50,000 grant for the project, "Cardiolipin activates pyruvate dehydrogenase (PDH) - a potential new target for treatment of Barth syndrome."

28 Mar 2018

Researchers move closer to solving puzzle of 15q13.3 microdeletion syndrome

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that usually contains six genes, but which one of the genes is responsible for the clinical characteristics of patients has not been clear.

2 Feb 2018

Researchers achieve new step towards treatment of myotubular myopathy using gene therapy

A team of researchers in France, led by Dr. Ana Buj-Bello (Genethon/Inserm) and teams at the University of Washington and Harvard Medical School in the United States, achieved a new step towards the treatment of myotubular myopathy by gene therapy.

5 Apr 2017

Use of next-generation gene sequencing in NICUs may improve diagnosis of rare diseases

The use of next-generation gene sequencing in newborns in neonatal intensive care units (NICUs) may improve the diagnosis of rare diseases and deliver results more quickly to anxious families, according to new research in CMAJ (Canadian Medical Association Journal).

30 May 2016

Disorders in PIGG gene can cause intellectual disability with seizures and hypotonia

A research group led by Osaka University and collaborative institutions discovered that disorders in the same gene PIGG are the cause for intellectual disability with seizures and hypotonia. PIGG is one of the enzymes active in the GPI anchor glycolipid synthesis and the current study revealed its significance in the development of the cerebral nervous system.

22 Apr 2016

CUMC researchers identify new neurodevelopmental syndrome

A multicenter research team led by Columbia University Medical Center has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.

22 Apr 2016

UNIGE researchers identify PIGG gene that plays crucial role in recessive disease

15 Apr 2016

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists' cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.

5 Apr 2016

UNIGE researchers identify new recessive disease

The objective of genetic medicine is to analyze all the genes that make up the human genome, in order to identify as many genetic diseases as possible. Indeed, each gene variation has the potential to trigger specific defects. Among all genetic conditions, diseases known as "recessive" occur only when both the father and the mother are healthy carriers of the same defective gene which can be passed down to their children.

18 Mar 2016

Dosing commences in Essentialis’ DCCR clinical study in obese Prader-Willi syndrome patients

Essentialis announced today the dosing of the first patient in clinical study PC025, which is designed to evaluate the safety and efficacy of diazoxide choline controlled release tablets (DCCR) in obese Prader-Willi syndrome patients.

27 Jun 2014

Argininosuccinic aciduria (ASA) and gene therapy: an interview with Dr Julien Baruteau, UCL Institute for Women's Health, London

This rare genetic condition can theoretically affect patients at any age but symptoms are more often observed in childhood and even uncommonly during the first days of life.

2 Sep 2013

WSU researchers to test novel hypothesis that cardiolipin deficiency leads to disruption of TCA cycle

Barth Syndrome (BTHS) is a rare and serious genetic disorder that primarily affects males and is passed from mother to son; women who are carriers do not show symptoms of the disorder. Fifty percent of children born to a mother who is a carrier will inherit the defective gene, and all daughters born to an affected man will be carriers. BTHS is caused by a mutation in the tafazzin gene that results in decreased production of cardiolipin, an essential lipid for energy metabolism.

8 Aug 2012

Researchers discover new cause of congenital myopathy

University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.

26 Jul 2012

Scientists create functional neurons to study ASD development

Using induced pluripotent stem cells from patients with Rett syndrome, scientists at the University of California, San Diego School of Medicine have created functional neurons that provide the first human cellular model for studying the development of autism spectrum disorder (ASD) and could be used as a tool for drug screening, diagnosis and personalized treatment.

12 Nov 2010

Autism Speaks: Ten most significant autism research achievements in 2009

Autism Speaks, the world's largest autism science and advocacy organization has released its annual list of the 10 most significant research achievements to have impacted autism during the previous year. Every year, Autism Speaks documents the progress made toward its mission to discover the causes and treatment for autism spectrum disorders, and compiles a list of the 10 most significant research achievements to have impacted autism during the previous year.

10 Feb 2010

FDA approves ZyStor Therapeutics' ZC-701 for Phase I human safety trial

ZyStor Therapeutics, Inc., a biotechnology company developing a new class of targeted protein therapeutics for the treatment of Lysosomal Storage Diseases using the Company's proprietary Glycosylation Independent Lysosomal Targeting technology, today announced that it has received clearance from the U. S. Food and Drug Administration to proceed into a clinical trial for its first drug candidate, ZC-701, an enzyme replacement therapy for the treatment of Pompe disease.

14 Oct 2009