Child motor neurone disease treatment clue

February 27, 2012

Child motor neurone disease treatment clue

BBC News | February 26, 2012

Scottish research has shown it could be possible to reverse the muscle damage seen in children with a form of motor neurone disease.

Spinal muscular atrophy (SMA) – ‘floppy baby syndrome’ – is the leading genetic cause of death in children.

It affects one in 6,000 births, but 50% of those with the most severe form die before the age of two.

The University of Edinburgh mouse study suggests a drug could boost levels of a protein and so reverse muscle damage.

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SMA Gene Associated with Sporadic ALS

February 15, 2012

SMA Gene Associated with Sporadic ALS

MDA/ALS NewsMagazine | February 10, 2012 | By Amy Labbe

Duplications (extra copies) of the SMN1 gene are a “major” risk factor for developing sporadic (noninherited) ALS (amyotrophic lateral sclerosis), a team of scientists based in the Netherlands and United Kingdom has reported.

The SMN1 gene also is implicated in the motor neuron disease spinal muscular atrophy (SMA). Deletions or mutations in the SMN1 gene (SMN stands for “survival of motor neurons”) lead to a deficiency of SMN protein and are the underlying cause of SMA.

ALS and SMA both are diseases in which muscle-controlling nerve cells called motor neurons degenerate and die, leading to profound muscle weakness and, eventually, paralysis.

The research team, including corresponding author L.H. van den Berg at the University Medical Center Utrecht in Utrecht, the Netherlands, described its findings online Feb. 8, 2012, in Neurology. (See SMN1 gene duplications are associated with sporadic ALS.)

Further research is needed to determine how SMN1 gene duplications raise the risk of developing ALS, and any potential for SMN1-based ALS biological markers (biomarkers) or therapies.

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Precious moments with our baby boy

January 30, 2012

Precious moments with our baby boy

Yorkshire Post | January 26, 2012

Watching your baby die from an incurable condition must be the worst thing for any parent. Catherine Scott spoke to one mother who has done just that.

Lucas Hannigan was a perfect baby. Unlike his big brother James he was an easy going baby who slept well. He passed all his newborn health checks and soon his parents Jenny and Steve were able to take their new baby home to Bingley.

But at his eight-week check the GP was puzzled – Lucas was thriving but he was very weak – he called it Hypotonia – and also noticed that his Moro (or startle reflex) was absent, although it had been their when he was born.

The GP wasn’t overly worried but he wanted them to see a paediatrician as he had never seen this before.

The family was referred to a neuromuscular specialist at the Leeds General Infirmary (LGI) .Eventually after a DNA test, Lucus was diagnosed with Spinal Muscular Atrophy (SMA), but by then the family had already pretty much diagnosed the condition themselves.

“The hospital wouldn’t tell us anything, so I put Lucas’s symptoms into the internet and almost immediately came across the Jennifer’s Trust website and couldn’t believe what I was reading.

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Mum strives for awareness of Spinal Muscular Atrophy

December 22, 2011

Mum strives for awareness of Spinal Muscular Atrophy | December 21, 2011 | By Laura McCardle

A mum whose baby daughter died shortly after she was diagnosed with a rare condition wants to raise awareness of it and its treatment.

Donna Bevan’s daughter Nicole was just four-and-a-half months old when she lost her battle with Spinal Muscular Atrophy (SMA) at Royal Berkshire Hospital (RBH) on Saturday, October 22.

Mrs Bevan, of Hunters Hill, Burghfield Common, believes that little Nicole was failed by the RBH and that she may have lived longer if things had been done differently.

Neurologists diagnosed Nicole with SMA on Friday, September 23, and Mrs Bevan felt her husband Nick and she were told very little about the condition except that their daughter “would have 12 months give or take”.

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Zumbathon will boost research efforts of the SMA Trust

November 17, 2011

Zumbathon will boost research efforts of the SMA Trust

Messenger | November 17, 2011

AN Altrincham couple are holding the north west’s largest ever Zumbathon event – to raise funds for research into a devastating condition that affects their baby son.

One-year-old David Dee was diagnosed in July with spinal muscular atrophy – a genetic muscle wasting condition affecting one in 6,000 children that there is currently no cure for.

David is unable to sit up or walk by himself and doctors say he will never walk.

However, there is some hope, as clinical trials by the charity the SMA Trust continue to make significant advances and a new drug is currently being tested in human trials.

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Maghull six-year-old with strength of newborn baby raising £17,000 to replace broken wheelchair

November 17, 2011

Maghull six-year-old with strength of newborn baby raising £17,000 to replace broken wheelchair

Liverpool Echo | November 17, 2011 | By Liza Williams

A MERSEYSIDE schoolboy with the strength of a newborn baby needs a new wheelchair after the wheels fell off his old one.

Six-year-old Ryan Noble, from Maghull, has spinal muscular atrophy, a degenerative disease.

His family are now trying to raise £17,000 for a specialist chair to help him get about with the help of the Caudwell Children national charity.

The Balder powered wheelchair is not available on the NHS but would transform his life, according to his mum Suzanne.

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Woodham Mortimer aunt braves bungee jump to help ‘amazing’ Nancie

November 5, 2011

Woodham Mortimer aunt braves bungee jump to help ‘amazing’ Nancie

Maldon Chronicle | October 24, 2011

A DARING aunt who is terrified of heights took to the skies at the weekend to raise money for a specialist bathroom for her disabled niece.

Nancie Seaber suffers from a debilitating condition, called spinal muscular atrophy, which means she has no muscle control and is confined to a wheelchair.

But, in a bid to make two-and-a-half-year-old Nancie’s life a little easier, auntie Kellie Jewell did a bungee jump to raise funds for a wet room she can bathe in.

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Pedal-powered tribute

August 23, 2011

Pedal-powered tribute | August 20, 2011 | By Will Frampton

A WESTBURY couple are holding a fundraising day at Westbury Town Football Club in memory of their baby Maisie, who died last year.

Dad Jim Pickernell, 30, has played with the reserves for the club, where his father-in-law is chairman, for five years, and thought it would be the perfect venue for a children’s bike and trike challenge.

The couple, of Timor Road, are hoping to raise as much as possible for the Children’s Intensive Care Unit at Bristol Children’s Hospital, where Maisie was cared for.

Maisie died last May aged just nine weeks and four days, after suffering from spinal muscular atrophy, a genetic condition which is most severe in babies. The event, on September 4, will raise money through sponsorship as youngsters aim to complete five full laps of the pitch.

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Health check on babies improved

July 18, 2011

Health check on babies improved

Leicester Mercury | July 18, 2011

A mum whose baby daughter died from a rare genetic disorder has succeeded with her campaign to bring in a training programme for health visitors.

Lucy Wright’s daughter Georgia died from muscle condition spinal muscular atrophy (SMA), aged seven months, in August 2008.

Since then, her mum, of Melton, has worked with a charity to urge NHS trusts to bring in training for health visitors which would help them to identify the condition earlier.

Leicestershire Partnership NHS Trust, which is responsible for health visitors in the county, is believed to be the first organisation in the country to bring in the training.

Lucy, 30, said: “If the training had been in place when Georgia was born, her condition might have been diagnosed earlier and it would have given her more quality of life in the time we had with her.

“I am pleased my campaign for the extra training in Leicestershire and Rutland has been a success but my work continues.

“I would like to see it introduced in every primary care trust in the country.”

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Drugs trial hope for brave Ruby

July 10, 2011

Drugs trial hope for brave Ruby

Worcester News | July 9, 2011 | By Richard Vernalls

A BRAVE young girl battling a rare genetic condition has started a cutting-edge medical trial which could offer hope of a brighter future to thousands of sufferers around the world.

Five-year-old Ruby Crowther has had more hurdles than most youngsters of her age to overcome.

The bright little girl, who goes to Rushwick CE Primary School, Worcester, has a degenerative nerve condition called type-2 spinal muscular atrophy (SMA), which causes the nerves sending messages to her muscles to die off.

We previously reported how Ruby needs a specially adapted wheelchair because she cannot walk and has limited use of her arms.

However, doctors have put her on a new trial involving a new drug called Olesoxime which is supposed to regenerate the nerves damaged by her condition.

She is one of only a handful of UK patients on the year-long trial. There are regular medical checks at Birmingham’s Heartlands Hospital where precise measurements are taken, to guage progress.

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