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Spinal muscular atrophy

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The case of Spinal Muscular Atrophy: Deadly inherited diseases start to yield – Tri Corner News

Part I of 2 A few years ago, a friend asked me if I could take over a…

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Teenager with degenerative muscle disease struggles to swallow food or even cough – Bristol Live

A teenager who suffers from a rare degenerative muscle disease struggles to cough or even swallow his…

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Instagram blogger inspires others with disabilities to enjoy colourful fashion – The Independent

The fashion industry has been making strides in recent years to become more inclusive and diverse. However, it…

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Scientists investigate new strategy to treat spinal muscular atrophy in infants – The Scripps Research Institute

Spinal muscular atrophy (SMA) is a genetic disease that can leave infants with weak muscles and trouble…

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Scientists investigate new strategy to treat spinal muscular atrophy in infants – Medical Xpress

Spinal muscular atrophy (SMA) is a genetic disease that can leave infants with weak muscles and trouble…

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Health chiefs urged to approve life-changing drug for Muscular Dystrophy patients – The Scottish Sun

PATIENTS with a genetic condition could lose the ability to move, breathe and swallow unless health bosses…

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Bath Half Marathon: These inspirational people from Midsomer Norton and Radstock are running in aid of local charities – Somerset Live

Local people are currently gearing up to prepare for the Bath Half Marathon – and it is…

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Mother’s plea for drug which could help her disabled son – ITV News

A mother from Welwyn Garden City is urging the NHS to allow the use of a drug…

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Spinal muscular atrophy (SMA) patients could get access to drug earlier than expected – Daily Mail

Patients with the devastating genetic condition, spinal muscular atrophy (SMA), could gain access to vital treatment earlier…

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Have Scientists Found a Treatment for Spinal Muscular Atrophy? – Medical News Bulletin

Spinal muscular atrophy often leads to an inability to breathe or death. Researchers tested a new gene therapy for the disease. Spinal muscular atrophy…

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Most people in favor of screening for spinal muscular atrophy – Science Daily

Research from the University of Warwick indicates that most people are in favour of newborn screening for the potentially deadly condition spinal muscular…

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‘I felt like second-class citizen when British Airways denied me boarding’, disabled composer says – Evening Standard

Evening Standard

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Nusinersen Improves Motor Function, Survival in Infants With Spinal Muscular Atrophy – Neurology Advisor

Infants with spinal muscular atrophy who receive nusinersen experience greater survival and motor function improvement compared with controls, according to findings from a…

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Gene therapy could cure Spinal Muscular Atrophy – ABC Online

A criticism is often levelled at pharmaceutical companies that they don’t seek to cure diseases – they only seek to find a long-term…

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New drug enables infants with genetic disorder to live longer, gain motor function – Science Daily

Infants with the most severe form of spinal muscular atrophy (SMA) were more likely to show gains in motor function and were 47…

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Most would-be parents who carry severe genetic disorders are unaware – The Age

Nearly 90 per cent of couples at risk of having babies with devastating genetic conditions have no family history of the disorders and…

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Acadiana family fighting to find a cure for Spinal Muscular Atrophy – KATC Lafayette News

Spinal Muscular Atrophy is a genetic disorder that affects the control of muscle movement. It affects crawling, walking,…

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Family fundraising for new wheelchair so 3-year-old girl can go to school – Bath Chronicle

Family and friends are fundraising to buy a three-year-old girl a new wheelchair for her birthday. Isabel Freeman from Midsomer Norton is unable to…

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Charity’s fears over cuts applied to patient’s healthcare budget – Norfolk Eastern Daily Press

Muscular Dystrophy UK has told Norwich Clinical Commissioning Group (CCG) its patients deserve clarity after 39-year-old Kirsty Read looked into the money she…

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Stratford District Council retains Disability Confident Employer status – Stratford upon Avon Herald

STRATFORD-ON-AVON District Council has retained its Disability Confident Employer status until 2019. To achieve this standard the council has shown a commitment to support…

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‘We were told to say goodbye to Noah and then had to fight to get a life-saving drug… now we want to give something back’ – Belfast Telegraph

Like most parents Jonny Collins (36) from Lisburn thinks he has the happiest, best four-year-old child in the world. But Jonny, who is…

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Iowa State University biomedical researcher conducts promising trial of potential therapy for spinal muscular atrophy – Iowa State University

A drug developed by an Iowa State University biomedical researcher as a potential treatment for spinal muscular atrophy showed promising results in a…

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11 Fast Facts About Spinal Muscular Atrophy – SMA News Today

How much do you know about spinal muscular atrophy (SMA)? It’s a genetic disease that progressively weakens the muscles of babies and small…

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Spinal muscular atrophy drug gives new hope for babies with cruel disease – ABC Online

Spinal muscular atrophy, or SMA, is one of those diseases you probably will not hear about until it affects someone you love. Then…

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Desktop 3D Printer Produces Arm Brace for Child with SMA – Machine Design

A child living in Poland was the recipient of a 3D-printed hand exoskeleton that would help him to perform everyday tasks while living…

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‘We don’t know how long we’ve got her for’: First-time parents share anguish as they spend their final moments with their terminally ill baby daughter born with a rare muscle-wasting disease – Daily Mail

A young couple has opened up about their anguish as they spend whatever time they have left with their terminally ill baby daughter. Sydney…

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Family’s debt because they can’t pay electric bill to keep daughter alive – Metro

A family say they are running into debt because of the high energy bills to keep their daughter alive. Maddison Sherwood has a rare…

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Family of girl, 8, struggling to pay electricity bill for equipment to keep her alive – Nottingham Post

The family of an eight-year-old girl say they are running into debt with their power provider after their monthly bill rocketed due to…

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Polish Designer Uses Sinterit Lisa 3D Printer to Make Exoskeleton Arms for Children with Spinal Muscular Atrophy – 3DPrint.com

I’ve heard it said that a kid’s main job is just to be a kid – go play, and enjoy the time before…

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Top 5 Reads for Spinal Muscular Atrophy Patients and Caregivers – SMA News Today

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that causes a loss of motor neurones and muscle, often causing premature death in…

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Disabled man who can barely move jailed for armed robbery – Metro

A severely disabled man who can barely move has been jailed for armed robbery in a case that has sparked outrage in Russia. Anton…

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Disgusted mum blasts ‘scumbags’ who stole disabled daughter’s food bag and pump that she relies on to eat – Mirror.co.uk

An angry mum has lashed out at the “scumbags” who broke into her car and stole her disabled daughter’s food bag. Lisa Warren said…

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Disney appeal launched for ‘miracle girl’ – Loughborough Echo

THE PARENTS of an eight year old “miracle girl” from East Leake have started an appeal to try and make their little girl’s…

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First-time mother, 33, shares her anguish as she spends her final months with her terminally ill baby girl – Daily Mail

Like many first time parents, for Rachael and Jonathan the arrival of their first-born child 14 weeks ago was a special and memorable…

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Nusinersen approved in the EU as first treatment for spinal muscular atrophy – Hospital Healthcare Europe

The European Commission (EC) has granted a marketing authorisation for Spinraza® (nusinersen) for the treatment of 5q spinal muscular atrophy (SMA), Biogen has…

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The cruel disorder killing little Mackenzie – The Courier Mail

THEY can’t cure her. All they can do is spend whatever time they have left with her. And talk about what it is…

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Evaluating Olesoxime as a Treatment for Spinal Muscular Atrophy – Medical News Bulletin

While spinal muscular atrophy (SMA) is relatively rare (approximately 1 out of every 11,000 births), there are few treatments currently available to slow…

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Study opens new line of attack on spinal muscular atrophy – Brown University

Scientists have discovered a physiological chain of events in animal models in which motor neurons and their communication with muscle become disrupted by…

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New Malden parents raising money to give ‘cheeky and intelligent’ two-year-old with spinal muscular atrophy power chair – Surrey Comet

The parents of a two-year-old boy with spinal muscular atrophy (SMA) are raising money to buy a power chair to give him his…

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Parents of Northern Ireland toddler with rare muscle-wasting disease say new drug offers hope – Belfast Telegraph

The mother of a little girl who might not live beyond her second birthday has told how access to a new drug has…

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How motor neurons falter in spinal muscular atrophy – Futurity: Research News

Scientists have discovered a chain of events in which the mutation that causes spinal muscular atrophy disrupts motor neurons and their communication with…

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Spinal Muscular Atrophy: New Clues to Cause and Treatment – Bioscience Technology

Spinal muscular atrophy (SMA), a neurodegenerative disease that causes progressive muscle wasting and paralysis, may be partly due to abnormalities in the synapses…

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Spinal muscular atrophy: New clues to cause and treatment – Medical Xpress

Spinal motor neurons (blue) affected by SMA (right image) have significantly less expression…

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Nusinersen receives positive CHMP opinion for the treatment of spinal muscular atrophy – Hospital Healthcare Europe

Biogen has announced the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) adopted a positive opinion recommending…

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Brown University Discovers Cure For Fatal Spinal Muscular Atrophy – University Herald

While spinal muscular atrophy (SMA), generally, has still no cure, experts at Brown University have found a “multipronged counterattack” for older patients and…

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New line of attack on spinal muscular atrophy – Science Daily

Though spinal muscular atrophy (SMA) in its most severe form remains incurable and fatal in early childhood, researchers are sustaining a multipronged counterattack…

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Family raising £10000 to help extend baby Ella’s life – LoughboroughEcho.net

Seven-month-old Ella-Rose Long, of Holland Close, Loughborough, who has been diagnosed with…

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Nusinersen Improves Motor Function in Children with Spinal Muscular Atrophy – Specialty Pharmacy Times

Data from a phase 3 end of study of…

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Family travels to France for son’s live-saving treatment – ITV News

When I meet Dani Ingrosso and John Else at the Trousseau Hospital in Paris, they are full of energy and positivity. You wouldn’t know…

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How to Handle Breathing Difficulties in Spinal Muscular Atrophy – SMA News Today

Many children with type 1 and type 2 spinal muscular atrophy (SMA) suffer from breathing difficulties. This is due to the weakened muscles…

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