Ministers are to consider a number of key Trailblazers Up in the Air campaign asks, including space for disabled toilets on aircrafts and priority storage for wheelchairs.

The Government are also considering the ability for wheelchair users to take their wheelchairs onboard the plane and travel in it.

Trailblazers went to the Flying Disabled Symposium last year, and have seen the prototype model of plane which would allow wheelchair users to travel in their wheelchair with comfort and dignity.

Aviation minister Baroness Sugg said

“We have to do everything possible to ensure passengers are put at the very heart of our aviation industry and the flying experience is a positive one for everyone boarding a plane.”

Our investigation, Up in the Air, into the accessibility of the air industry was sparked by repeated reports of disabled passengers receiving a second-rate service from airlines.

In 2008, legislation was introduced by the European Union to protect the rights of disabled passengers flying in and out of Europe. However, it has been 10 years since the regulation was implemented, and our investigation reveals that disabled passengers still regularly encounter barriers to a smooth and pleasant travelling experience.

Although some disabled passengers have had good experiences, most disabled passengers believe there is much that the airline industry needs to do before it catches up with other mainstream modes of transport.

Our report revealed:

• Six out of ten disabled passengers say their wheelchairs have been damaged when travelling with an airline.
• Six out of ten disabled passengers said they felt unsafe when they transfer from a wheelchair to an airline seat.
• Almost half of disabled passengers feel that airline staff who lift and carry them do not provide a good service.
• Nine out of ten wheelchair users are unable to use airline toilets and therefore have to avoid drinking before or during flights.

Trailblazers Campaigns Officer Michaela Hollywood said:

“We welcome this news from the Government.

Many of our Trailblazers have told us of the frustrating difficulties and lack of dignity they experience when flying. The difficulties start from booking tickets until you return home, impacting on the whole journey and experience.

Wheelchair users being able to travel in their own wheelchair is the ultimate goal, but in the interim the use of Eagle Lifters bridges a gap.

Trailblazers are committed to improving air travel for disabled people, and we look forward to continuing this work.”

You can read our report on air travel here. 

New research has shown that certain mutations in a gene called SCN4A are associated with some cases of ‘cot death’, or sudden infant death syndrome (SIDS).

SCN4A codes for a protein channel that allows sodium to flow in and out of the muscle. This is important for normal muscle contraction. SCN4A mutations are known to cause neuromuscular conditions including periodic paralyses, myotonia, congenital myasthenic syndrome and congenital myopathies, but this is the first time they have been linked to SIDS.

The researchers used sequencing technology to search for SCN4A mutations in 278 infants who had died from SIDS. They also searched for SCN4A mutations in 729 healthy adults, who acted as controls for the study.

This analysis revealed mutations disrupting SCN4A function in four infants, but in no controls. Although this number is small, it is very significant because SCN4A mutations are normally extremely rare.

This study improves understanding of some - but not all – SIDS cases. The researchers have stressed that there are many risk factors involved in SIDS, so the SCN4A mutation was probably not the only cause of death. In addition, SCN4A mutations are found in some adults with neuromuscular conditions, so they are not always lethal. Further research is needed to fully understand the role that SCN4A may have in SIDS.

Our Chair, Professor Mike Hanna, led some of the research based at University College London. In a press release, he said:

Our study is the first to link a genetic cause of weaker breathing muscles with sudden infant death syndrome, and suggests that genes controlling breathing muscle function could be important in this condition. While there are drug treatments for children and adults with genetic neuromuscular disorders caused by SCN4A gene mutations, it is unclear whether these treatments would reduce the risk of sudden infant death syndrome, and further research is essential before these findings can become relevant to treatment.

Further information

Access the full published study in the Lancet.

Read our periodic paralyses factsheet

Get the latest research news

Muscular Dystrophy UK has been asking adults with Duchenne muscular dystrophy for their views on how to improve care for people with this condition.

Over 80 adults participated in our three month consultation, which will help inform the care recommendations for adults living with Duchenne.

The recommendations will outline the key interventions and care that should be available to any young adult with Duchenne, and will be the first formal document created to outline best-practice care for adults with this condition. They are being developed by the Adult North Star Network's collection of neuromuscular expert health professionals and will be published later this year.

There were a number of key recommendations made by adults with Duchenne in response to our consultation about how their care could be improved:

• Improving access to specialist physio

• Providing specialist care closer to home

• Improving support at  the point of diagnosis

• Increasing awareness about research opportunities

• Improving access to NHS wheelchair services

The North Star network was originally set up to help drive improvements in services and set national standards of care for children living with Duchenne. Since then, children with the condition now benefit from a national database which logs their clinical data, and has led to major breakthroughs such as the use of steroids in children with Duchenne. The Adult North Star network is working to ensure the same level of support is provided in adult care.

Further information on the publication of the care guidelines will be made available on our news page later this year.

If you would like to let us know your views on care for adults with Duchenne then get in touch with our Campaigns team campaigns@musculardystrophyuk.org.

Access to physiotherapy and psychological support were the focus of the All Party Group on Muscular Dystrophy in the Northern Ireland Assembly yesterday.

Physiotherapy provision

Siobhan MacAuley, clinical specialist in neuro-physiotherapy, spoke about the provision of adult physiotherapy and trying to assess the physiotherapy needs of different types of muscular dystrophy.

The discussion on accessing physiotherapy included points on:

• difficulties in accessing physiotherapy
• gap in paediatric physiotherapy
• importance of respiratory physiotherapy and availability of cough assist machines
• implementation of guidelines and standards of care

Psychology support

Suzanne Glover, who has spinal muscular atrophy, talked about Muscular Dystrophy UK’s Mental Health Matters campaign and her own experiences of accessing counselling support.

The perspectives shared following Suzanne’s testimony included:

• need for counsellors and psychologists to have a basic understanding of muscular dystrophy and neuromuscular conditions
• lack of counselling service being offered to people with muscle-wasting conditions
• effect on the wider family as well as someone with the condition
• exploring charity support which is available

Mark Durkan MLA, Chair of the All Party Group, will be writing to the Department of Health to raise the issues covered at the meeting and call for improvements to care and support for people with muscular dystrophy and neuromuscular conditions in Northern Ireland.

AMO Pharma recently presented data from its trial investigating tideglusib (AMO-02) in teenagers and adults with congenital and childhood-onset myotonic dystrophy.

The phase 2 study enrolled 16 participants aged between 13 to 34 years old. Every day for 14 weeks, the participants took an oral dose of either: 400mg tidegusib, 1000mg tideglusib, or a placebo. Their condition was monitored by both doctors and caregivers over the 14 weeks.

Most participants who received the drug had improved cognitive (brain) function and felt less fatigued (tired). They were also better at performing day-to-day tasks and activities. In addition, several participants showed improvements in autistic symptoms.

Both doses of tideglusib were safe and well tolerated. However the higher dose (1000mg/day) appeared to more beneficial than the lower dose (400mg/day).

Dr Michael Snape, Chief Executive Officer of AMO Pharma, said:

These significant data are an important step in the development of AMO-02 as a potentially safe and effective treatment option for many patients living with congenital and childhood onset myotonic dystrophy type 1. We look forward to advancing the clinical development program for AMO-02 and are grateful to the clinicians, caregivers and patients who participated in this landmark trial.

AMO Pharma is planning to further evaluate the efficacy of tideglusib in larger multi-site clinical trials in the US, Canada and UK. We will let you know as soon as the company releases any more information.

Further Information

Read AMO Pharma's press release

Get the latest myotonic dystrophy research news

Find out more about our current research projects

On Wednesday (March 21^st) Muscular Dystrophy UK’s Trailblazers held the first Employers Working Group meeting as part of the Employability project. City Bridge Trust have funded MDUK to develop policy recommendations to get more disabled people into work. The meeting was at the Guildhall in London and saw employers across several sectors come together to discuss disability in the workplace.

The Working Group discussed disability throughout the recruitment process and in the workplace to understand what employers think and might have concerns on when hiring a disabled person. Employability Officer Emma Vogelmann encouraged the group to be open and honest as this will allow the policy recommendations to target the correct areas and be well informed. The meeting was a great success and there were lots of interesting points made.

Susie Worster from Wall to Wall attended the meeting and said:

“We had a great session.  Being able to discuss the benefits and issues around working with disabled people has been very helpful and hopefully will pave the way for more collaboration in the future.”

Sharon Jacques from Amnesty International who also attended the meeting said:

"The meeting was a great occasion to network and develop my knowledge base around diversity hiring and what organisations can (and should) do. The opportunity to talk openly, and safely, with other organisations, was invaluable. I am really looking forward to what we can achieve!"

Emma Vogelmann who led the meting said:

“I was so pleased with how the meeting went. The best part was that the attendees felt able to speak honestly and openly about disability. This will not only benefit my work but it also allowed them to learn from each other and bring new ideas to their organisation.”

If you’re an employer and would like to join the working group, email our campaigns team: campaigns@musculardystrophyuk.org

The Duchenne muscular dystrophy treatment, Translarna, is available on the NHS across the UK. In England this is part of what is called a Managed Access Agreement (MAA). Muscular Dystrophy UK and Action Duchenne have answered some frequently asked questions below, including details about Translarna and the MAA process.

About Translarna

Q: What is Translarna?

A: In August 2014, Translarna became the first drug to be given approval to treat the genetic cause of Duchenne muscular dystrophy, outside of a clinical trial. It has been designed to address a particular genetic mutation, called a “nonsense mutation”, causing 10-15 percent of cases of the condition.

Q: Who is Translarna for?

A: Translarna (also known as ataluren) has been developed to treat children whose Duchenne muscular dystrophy is caused by a ‘nonsense’ mutation. Translarna is the first drug to address an underlying genetic cause of muscular dystrophy to be recommended for use on the NHS in England. It is available for children who are:

• aged five years and over
• are still able to walk – 10 steps unaided

Currently, Translarna is not licensed for younger children or children who have lost the ability to walk. More clinical trials will be needed to assess the efficacy and safety of Translarna in these groups of individuals.

Q: How does Translarna work?

A: Translarna works by enabling the protein-making apparatus in cells to ignore and move past the premature stop signal, allowing the cells to produce a functional dystrophin protein. Translarna is taken orally in a powdered solution that is dissolved into a small amount of liquids.

Q: Can you take Translarna when you are on steroids?

A: Ataluren will be considered as a treatment option for all ambulatory patients aged 5 years and older living with Duchenne resulting from a nonsense mutation (nmDMD). It will be added to existing standard treatment, including use of corticosteroids.

About the Managed Access Agreement (MAA)

Q: What is a Managed Access Agreement?

A: An agreement between NHS England and NICE which enables patients to receive new treatments while long-term data on them is still being gathered and before final funding decisions are taken (at the end of the 5 years).

Q: Who is eligible for the MAA?

A: Translarna will be considered as a treatment option for all ambulatory patients aged 5 years and older with Duchenne resulting from a nonsense mutation. All patients need to sign up to the MAA patient agreement before starting treatment with Translarna.

Q: How many people are receiving Translarna via the MAA?

A: About 80 children in England have been started on Translarna since August 2016 via the Managed Access Agreement.

Q: Are there any reasons I will stop receiving Translarna via the MAA?

A: A patient will stop receiving Translarna under the following ‘stop criteria’:

• The Patient is non-compliant with assessments for continued therapy (non-compliance is defined as fewer than two attendances for assessment in any 14 month period).
• If a patient has lost all ambulation (i.e. can no longer stand even with support) and has become entirely dependent on wheelchair use for all indoor and outdoor mobility (other than for reasons of an accident and/or an intercurrent illness), the patient’s physician needs to discuss stopping ataluren treatment.

In such cases as defined above, patients should stop treatment no later than 6 months after becoming fully non-ambulant. If you have any questions about the stop criteria, you should raise these with your physician.

Q: What happens at the end of the MAA?

A: At the end of 5 years, NICE will review all the extra information they have gathered (including all the clinical and Quality of Life data) and look again at how well Translarna works in patients. If at the end of the 5 year MAA, NICE no longer recommends Translarna for NHS funding, then NHS England funded treatment would need to stop.

However, if at the end of the 5 year MAA, NICE recommends Translarna for further NHS funding, then it will continue to be funded in England according to the arrangements between NICE and NHS England at that time.