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

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

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

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

Mutations of IRF2BPL gene associated with previously undiagnosed neurological disorder

Mutations of IRF2BPL gene associated with previously undiagnosed neurological disorder

Researchers aim to reveal new direction for Barth syndrome treatment

Researchers aim to reveal new direction for Barth syndrome treatment

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

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

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

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

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

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

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

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

CUMC researchers identify new neurodevelopmental syndrome

CUMC researchers identify new neurodevelopmental syndrome

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

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

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers uncover new syndrome that causes intellectual disability

UNIGE researchers identify new recessive disease

UNIGE researchers identify new recessive disease

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

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

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

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

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

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

Researchers discover new cause of congenital myopathy

Researchers discover new cause of congenital myopathy

Scientists create functional neurons to study ASD development

Scientists create functional neurons to study ASD development

Autism Speaks: Ten most significant autism research achievements in 2009

Autism Speaks: Ten most significant autism research achievements in 2009

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

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