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.

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