Hypotonia News and Research

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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.

SRF announces grant to support research on SynGAP-Related Disorder in adults

The SynGAP Research Fund 501(c) today announced a grant to Dr. Danielle Andrade, Dr. Miles Thompson, Dr. Ryan Yuen, Dr. Rogier Kerssebook, and Dr. Anatoljevna Anna Kattentidt to support research on SynGAP-Related Disorder (SRD) in adults.

4 Apr 2024

Understanding giggle incontinence: Causes, symptoms, and management

Giggle incontinence, a unique form of laughter-induced urinary incontinence, primarily affects children without other urological disorders, with treatment options including urotherapy, biofeedback, and methylphenidate.

27 Feb 2024

Researchers discover PPFIA3 gene as a cause of previously unknown syndromic neurodevelopmental disorder

An international collaborative study led by postdoctoral scientist, Dr. Maimuna Paul, and child neurologist, Dr. Hsiao-Tuan Chao, an assistant professor at Baylor College, a faculty member with the Cain Pediatric Neurology Research Foundation Laboratories at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, and an investigator at the McNair Medical Institute with The Robert and Janice McNair Foundation, recently discovered that variants in the PPFIA3 gene cause a previously unknown syndromic neurodevelopmental disorder.

4 Jan 2024

Genetic mutation in OXR1 gene linked to brain development issues

Study investigates the effects of a loss-of-function mutation in the OXR1 gene on neurodevelopment and cellular functions in the human brain. The research shows that OXR1 deficiency impairs neural differentiation, increases sensitivity to oxidative stress, and alters histone methylation, impacting brain development and potentially contributing to neurological disorders.

27 Nov 2023

Dangerous weight loss trend triggers Iatrogenic botulism outbreak in Europe

Researchers study documents relevant laboratory and epidemiological data on travel-associated iatrogenic botulism outbreaks in Europe.

11 Jun 2023

Impact of maternal COVID-19 on neonatal brain development

Researchers described two coronavirus disease 2019 (COVID-19) -infected neonate cases.

10 Apr 2023

PARK2 duplication or microdeletion and neurological diseases

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's.

28 Feb 2023

SynGAP Research Fund awards $180,000 grant to the University of Edinburgh Medical School's Patrick Wild Centre & Centre for Discovery Brain Sciences

SynGAP Research Fund (SRF), a 501(c)(3) public charity whose mission is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies and support systems, along with SynGAP Research Fund UK, today announced they have awarded a $180,000 grant to the University of Edinburgh Medical School's Patrick Wild Centre & Centre for Discovery Brain Sciences to advance the science around gene transfer to correct SYNGAP1 haploinsufficiency.

5 Jan 2023

Study uncovers genetic cause of a novel developmental epilepsy syndrome

Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population.

16 Dec 2022

The currently available evidence on viral-induced parkinsonism

A new review attempts to summarize all known about the relationship between viral illness and parkinsonian disorders to facilitate further research.

31 Aug 2022

Researchers discover mechanism for congenital disorders of glycosylation

Greenwood Genetic Center researchers are reporting the discovery of a mechanism that contributes to the tissue phenotypes seen in PMM2-CDG, the most common of the congenital disorders of glycosylation (CDGs).

8 Dec 2021

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder

A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder.

8 Jul 2021

Research shows how loss of de-N-glycosylation enzyme causes detrimental effects

Peptide: N-glycanase (NGLY1) is an evolutionarily conserved enzyme for removing N-linked glycans (N-glycans) from glycoproteins and is involved in proteostasis of N-glycoproteins in the cytosol. In 2012, a rare genetic disorder called NGLY1 deficiency was discovered by an exome analysis.

7 Jul 2021

Study provides an overview of neonatal withdrawal signs following late in utero exposure to SSRIs

Neonatal withdrawal signs have been documented in newborns of mothers treated with antidepressants and are known as a cause of neonatal morbidity.

19 May 2021

Researchers identify CLCN6 as disease gene for severe lysosomal neurodegenerative disorder

A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie and the Max Delbrück Center für Molekulare Medizin, together with an international team of researchers, have now analyzed the effect of a point mutation that was found in three unrelated affected children.

19 Nov 2020

How COVID-19 lockdown affected the heart

A new study published on the preprint server medRxiv in August 2020 shows that heart rate variability assessments, used to evaluate the health of the heart and blood vessels, are useful in identifying changes in health and well being throughout lockdown related to COVID-19.

4 Aug 2020

Recognizing CDKL5 Deficiency Disorder

News-Medical speaks to Dr. Dan Lavery about the LouLou Foundation, a non-profit organization dedicated to CDLK5 Deficiency Disorder.

17 Mar 2020

Wayne State researchers receive grant to develop new treatments for Barth syndrome

Barth syndrome is a rare and life-threatening, X-linked genetic disorder that primarily affects males and is passed from mother to son; women who are carriers do not show symptoms of the disorder.

16 Feb 2020

Research team publishes findings from study of TAF1 syndrome

An international, multidisciplinary research team from more than 50 institutions, led by geneticist and psychiatrist Gholson Lyon, MD, PhD, of the New York State Office for People With Developmental Disabilities' Institute for Basic Research in Developmental Disabilities, today announced publication of findings from its study of the rare disease TAF1 syndrome.

21 Nov 2019

IBR receives $1.95 million NIH grant for research on rare diseases

The New York State Office for People With Developmental Disabilities' Institute for Basic Research in Developmental Disabilities has received a $1.95 million grant, for a five-year period, from the National Institute of Health's National Institute of General Medical Sciences to support IBR physician-scientist Gholson Lyon, MD, PhD, in his research on rare diseases.

5 Nov 2019