Global Registry for COL6-related dystrophies

September 12th, 2019

The Global Registry for COL6-related dystrophies is a research database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these conditions.  The registry team is based at Newcastle University, UK.  The registry aims to; improve clinical trial readiness, encourage and facilitate further research into the COL6 related dystrophies, provide researchers with data to support their research and assist doctors and other health professionals by providing them with up-to-date information on managing COL6-related dystrophies, to help them deliver better standards of care for their patients.   For more information on how to participate please visit or contact the curator at

Study of Adult Neuromuscular Conditions in Ireland

January 21st, 2019






A Population-Based Epidemiologic Study of Adult Neuromuscular Conditions in the Republic of Ireland

There have been no previous studies in the Republic of Ireland looking at how many adult patients there are with different diseases of the muscles and nerves. We call these conditions ‘neuromuscular conditions’. This study is underway at Cork University Hospital and Beaumont Hospital, Dublin under direction of Dr. Aisling Ryan, Consultant Neurologist, CUH and Prof. Orla Hardiman, Consultant Neurologist, Beaumont Hospital. We are enrolling adult patients with neuromuscular conditions throughout the Republic of Ireland.


In this study we would like to find out exactly how many patients there are with different adult neuromuscular conditions in the Republic of Ireland. This will help us to form lists of patients and find out how common these conditions are, and to generate registers of specific conditions. These registers will be a useful way of ensuring that patients can be kept informed about the latest information that might be relevant to their disease including the latest treatment options. Sometimes there are clinical trials of potential new drugs, and registries will facilitate the inclusion of Irish patients with neuromuscular conditions.


  • To obtain the prevalence data about the number of people with adult neuromuscular conditions in the Republic of Ireland
  • To generate specific registries for certain neuromuscular conditions
  • To generate specific care programmes for patients with adult neuromuscular conditions


Click here to find out more information about the study and enrolling procedure from the Patient’s Information Leaflet sample.Those who are interested to participate in the study or have further questions please do not hesitate to contact Dr Stela Lefter, Neuromuscular Research Fellow, mobile: 086 0245886 or via email:

New Chief Executive Officer

December 20th, 2018

Elaine McDonnell, CEO, MDI

Elaine McDonnell, CEO, MDI

Dear Members and Friends of MDI,

We are pleased to inform you that, following a rigorous, fair and transparent recruitment process for the post of Chief Executive Officer of MDI, Ms Elaine McDonnell, current Interim CEO has been appointed to the full role, effective from 4th February 2019.

Elaine is extremely well known amongst our membership. As a parent of a young adult with muscular dystrophy, she is very aware of many of the challenges that living with muscular dystrophy may bring. Elaine and her family were among many energetic members from the Midlands region who over the years, helped to raise much needed funds and create essential awareness of the condition of muscular dystrophy. Elaine has been involved with Muscular Dystrophy Ireland for nearly 20 years and throughout this time she has served on various committees and sub-committees at both local and national level. She served on the National Executive from 2007 to 2017 fulfilling different roles including National Treasurer, Vice-Chairperson and Chairperson of MDI. Since February of this year, Elaine has worked tirelessly in the role of Interim CEO to bring stability to our organisation.

Building on the foundations laid from the beginning of 2018, with Elaine’s new appointment, Muscular Dystrophy Ireland will continue its work as a member led organisation that listens to the voice of our members and strives to meet the needs of every Individual who needs our support. This will be further supported by the rolling out of our new strategic plan, and we look forward to working with Elaine, our staff, and our members in completing and then implementing this plan over the coming years.

After the significant challenges of the last 3 years since the untimely loss of Joe T Mooney, it is very much time for MDI to begin building upon his legacy and refocus on our values and mission. This is a really important time for our organisation and I hope you will all join me in congratulating Elaine on her new appointment and continue to support and engage with MDI as we strive to develop our organisation for the benefit of all of our members.

Finally, on behalf of everyone in MDI, may I take this opportunity to wish you, your families and friends a peaceful Christmas and a happy New Year.

Yours sincerely,

John Rooche
?Muscular Dystrophy Ireland

Statement on Nusinersen (Spinraza)

December 19th, 2017

MDI Statement on Nusinersen

Today (19th December 2017), the National Centre for Pharmacoeconomics (NCPE) have issued their recommendation following the Health Technology Assessment (HTA) of Nusinersen for the treatment of 5q Spinal Muscular Atrophy (SMA). The NCPE has not recommended for reimbursement of Nusinersen at the submitted price.MDI understands that this decision will be very disappointing and frustrating for our members living with SMA and their families who could benefit from this treatment. However, it is important to note, that this recommendation only forms part of reimbursement process. The next stage in the process will involve further price negotiations between Biogen and the HSE Corporate Pharmaceutical Unit and subsequently a final decision will be made by the HSE Drugs Group.

?Any members who have questions about this recommendation can contact

Translarna Press Release

August 2nd, 2017

MDI Statement on Translarna 2nd August 2017

Muscular Dystrophy Ireland Hugely Disappointed at HSE Decision Not to Fund First Therapy to Treat Duchenne Muscular Dystrophy – Calls on Minister for Health to InterveneDate of issue: 02/08/2017Muscular Dystrophy Ireland has today expressed its disappointment at the decision by the HSE not to fund the treatment Translarna, for the small number of children who need it.

Translarna is a new treatment for people with a particular type of Duchenne Muscular Dystrophy – specifically those patients who condition is caused by a particular genetic defect, called a nonsense mutation in the dystrophin gene, and who are aged 5 years and older and able to walk. It is the first treatment to address the underlying genetic cause of Duchenne muscular dystrophy.

Muscular Dystrophy Ireland has raised the issue of access to this therapy over the past two years in the media and in various meetings with public representatives and other stakeholders, most recently, at a meeting of the Oireachtas Joint Committee on Health in July 2017.
Since 2014, over 400 children in 22 European countries have been receiving this treatment. That means that 80% of eligible children in Europe are now receiving the drug and this leaves Ireland as one of the last remaining countries to facilitate treatment.”
It would appear that the Ireland’s decision not to reimburse for Translarna is at odds with regulators, health authorities and experts across Europe.
MDI is therefore calling on the Minister for Health to intervene and to insure that this medication is made available to the small number of children who need it.
MDI will continue to provide support to the families affected by this disappointing decision.

For more information on muscular dystrophy and the work of MDI, visit or follow on Facebook and on Twitter @MD_ireland.


Issued by:
Clair Kelly, Muscular Dystrophy Ireland, tel.: 01 623 6414

Martin Naughton Obituary

October 13th, 2016

Martin Naughton – Obituary

It is with great sadness and deep regret that we at Muscular Dystrophy Ireland (MDI) learned yesterday (13th October 2016)  of the passing of Martin Naughton, former Chairman, Vice Chairman, Board Member, Council Member and lifelong friend and supporter of MDI.

Martin has been actively involved with MDI since 1980.  Myself and Martin (along with our close friend Ursula who passed away in 2006) first became involved with MDI after he saw a notice in a national newspaper, advertising for members to join a new support group which had been set up in Dublin only months earlier.  MDI as a national organisation had only been established eight years previously (in 1972), so this alone indicates just how long Martin was involved with MDI and demonstrates how dedicated and interested he was in helping this new organisation to develop.

Within months of becoming involved with MDI back in 1980, Martin had saw huge potential for the growth and development of MDI, which then was an organisation still in its infancy with less than approximately 100 members nationwide.  Sadly, there are not many members from this period still with us who will realise the impact which Martin has made to the development and growth of MDI, but I for one can confirm this.

PictureIn the early 1980’s Martin was instrumental in helping to direct MDI on to a new path which would lead to the foundation of MDI’s first office spaces.  With Martin in the driving seat, this step alone marked the beginning of a new route that lead to the initial introduction of pilot services such as family support, information and youth services.  Today, I believe that because of the foresight and guidance of individuals such as Martin in these early days, MDI is now the organisation that it is today, which provides unique and valuable services to people with muscular dystrophy (and people with disabilities in general), something which would not have happened without the intervention of individuals such as Martin.

As indicated, Martin served as Chairman, Vice Chairman, Board Member and Council Member of MDI periodically (between the mid 1980’s and recent times) and throughout this timeframe, he constantly expressed a genuine interest and commitment to make certain that MDI remained on track and to ensure that the services we have today would continue to grow and develop and allow people with disabilities (and not just people with muscular dystrophy) to live a full and active life.

This vision of Martin’s was particularly apparent through his involvement with the establishment of the Center for Independent Living (CIL) in Ireland in 1992.   Although Martin never officially took credit for his involvement in the establishment of CIL, it must be noted that he was indeed the initial driving force in ensuring that Independent Living became a reality for so many people living with disabilities in Ireland at that time and indeed at the present time also.  I for one, have thank Martin, for educating me about the philosophy of independent living and for encouraging me to understand, see and take the road which has enabled me to live the life I now choose.  And this I believe, applies to so many people with disabilities in Ireland today.

Anybody now with adequate support services (and especially Personal Assistant Services) must also realise that it was because of Martin’s vision and foresight that they too can now live an independent living lifestyle of their choice and play an active role in society.   In my opinion, Martin instigated these services – without doubt.  His actions must always be recognised and remembered for this.

PictureWith both MDI’s and CIL’s footprints now firmly marching in the right direction, Martin believed that his work as a disability activist, campaigner and visionary was far from complete.  He was always thinking a few steps ahead and in recent years he was once again the main driving force with the establishment of the Áiseanna Tacaíochta Network (the AT Network), a new leading organisation in the Independent Living movement in Ireland which now facilitates a Direct Payments model to people with disabilities for the first time.  Through Direct Payments, individuals move from dependency on disability service providers to directing their own services, mainly Personal Assistance – something which Martin had believed in and had campaigned for, for many years.  And as always, he succeeded in securing and introducing yet another option for people with disabilities to choose from, which would allow us to take control of our lives and live as we saw fit. There are also numerous other areas within the disability sector (too many to mention) in which Martin’s sad passing will result in a massive void and emptiness which I believe that no one can ever fill.   Martin was a unique, talented and amazing individual and the comments which I’ve read on Facebook and elsewhere from fellow colleagues, friends and peers since his passing clearly demonstrates the impact in which Martin has made on their lives.

To refer to Martin’s legacy, the AT Network is something which first and foremost will most definitely be his most recent venture that will have impacted on the lives of so many people with disabilities today.   We must guarantee that this project will now continue to grow and develop in his memory and ensure that we as people with disabilities have the choice to direct our own services.   To sum up Martin’s legacy in just a few words is impossible – he was constantly striving for equality and rights for people with disabilities in every aspect of living.  But if challenged to do so I would have to use the expression “Nothing about us, without us”.  Martin penned this phrase over 25 years ago.  He believed in every syllable and character of this powerful statement and constantly fought and campaigned to ensure that we as people with disabilities would have complete control of our lives and choose our own destiny.  We all must now therefore ensure that the enormous amount of services, work and everything which Martin fought and campaigned for lives on indefinitely.

Martin had an amazing vision as a disability activist, a campaigner, a negotiator, a colleague and he was a genuine friend to me and many many people.  He will be sadly missed by everyone who was fortunate enough to have crossed his path at whatever junction they met.

On behalf of Muscular Dystrophy Ireland, its community and staff, I would like to express my deepest sympathy to Martin’s sisters Chris, Mairead, Cáit, Bernie and Barbara and their extended families, his Personal Assistant’s and many, many friends.

Ar dheis Dé go raibh a anam dílis.
Hubert McCormack
Administrator – MDI
and close friend.

Florence Dougall Obituary

July 30th, 2016

Florence Dougall

Florence Dougall

It was with extreme sadness and regret that we at Muscular Dystrophy Ireland (MDI) learnt of the sad passing yesterday (29/07/2016) of Florence Dougall, Executive Board Member and Company Secretary of MDI. Florence passed away peacefully in Beaumont Hospital, Dublin, surrounded by family, friends and PA’s.

Florence has been involved with Muscular Dystrophy Ireland since the mid 1980’s and has played a huge part at every level within the organisation since becoming a member.  She was an avid supporter of all of MDI’s Awareness, Information and Fundraising activities and has served on many committees over the years.

At the MDI AGM on 7th May 2016, Florence was re-elected as Company Secretary and Board Member for the current year.  She has also served at all Executive level positions in the past 12 years (i.e. Vice-Chairperson, Treasurer and Executive Member) and was Chairperson of MDI for three years from 2005 to 2007.  She was also a member of MDI’s National Council for many years previously.?Florence was a true advocate and supporter of Muscular Dystrophy Ireland and she channelled all her energies not only into ensuring that MDI would continue to be the unique and member led organisation that it is today, but she also fought with passion to help secure and ensure that people with disabilities would have access to all the necessary support services which would enable us as people with disabilities to take control of our lives and allow us to live full and active lives of our choosing.  This was particularly apparent through her campaigning and involvement with Centre for Independent living, when she became one of the first group of people with disabilities in Ireland to secure the services of a Personal Assistant (PA) back in the early 1990’s which enabled her to move into her own apartment and live independently.

Florence relished this new sense of freedom and embraced life to the full, using every hour of every day to maximize life’s full potential.  She also continued tirelessly to advocate and fight to ensure that Independent Living, and particularly the Personal Assistant Services, would continue to grow and stay permanently on Government’s agenda.Through all this time, Florence also managed to hold down a permanent position as Receptionist with the Central Remedial Clinic for nearly 40 years, where she made many life-long friends.

Florence was a lady and her sad passing will without question leave a huge void in the character and structure of the Board of MDI and the organisation as a whole.  Her elegance and glamour alone very much demonstrated the standards which she expected from MDI – if it wasn’t good enough for Florence, she wouldn’t expect anything less for anyone else.  It was always a pleasure to be in Florence’s company and her presence and matriculate attention to detail is just one of the many great qualities which she will always be remembered for.

?On behalf of Muscular Dystrophy Ireland, its community and staff, I would like to express my deepest sympathy to Florence’s sisters Ann, Doreen, Heather, Hilary, Jacqui, and Valerie (and their extended families), to her current Personal Assistants Diava, Jean, Kate and Patrycja and to her relatives and many many friends.

Ar deis de, go raibh a ainm usuail.
Hubert McCormack
Administrator – MDI,
& Close Friend

Joe T Obituary

September 15th, 2015

Joe T Mooney – Obituary

Joe T Mooney - RIP: 1965 - 2015

Joe T Mooney – RIP: 1965 – 2015

The morning of the 15th September 2015 is a moment in time that will forever be etched in the history of Muscular Dystrophy Ireland (MDI) as a sad and poignant date which has regrettably marked the end of an era for our organisation.  It was on this morning and with great sadness and shock that we at MDI had learned of the sudden and untimely passing of our CEO and esteemed friend and colleague, Joe T Mooney.
Joe T was appointed as CEO of Muscular Dystrophy Ireland in July 2001 and for the next fourteen years he provided distinguished leadership and support to members, families, colleagues and to the organisation as a whole.  Prior to his appointment as CEO of MDI, Joe T had been involved with the organisation for almost 20 years previously, when he first became involved with the Donegal Branch of MDI in the early 1980’s as a volunteer.Joe T worked and campaigned tirelessly over the years to support and enhance the quality of life for people with disabilities in general and not just for people with muscular dystrophy where he had a personal interest, given that he had lived with this condition since childhood. ?

Despite his disability, Joe T had never let his condition get in the way from achieving goals. While at college completing a business studies course in the early 1980’s Joe T and his late brother Seamus had designed and patented a disability transfer aid “The Mooney Buggy”, in conjunction with the Institute of Industrial Research and Standards (now Enterprise Ireland).  The Mooney Buggy was subsequently bought by a UK manufacturer for development in 1986.  After graduating, Joe T then ran a successful mushroom business in his home town of Carndonagh, Co Donegal for a number of years before moving to Dublin in the early 1990’s.

As mentioned, Joe T had a personal connection with muscular dystrophy and this also extended to his immediate family as his brother Seamus and sister Dymphna (who both sadly passed away in 1989 and 2005 respectively) also grew up with muscular dystrophy and despite many obstacles both had qualified and worked as accountants.  Joe T too grew up in Carndonagh and although he lived in Dublin since the early 1990’s, he had always referred to Donegal as his home. He had very strong family values and regularly traveled to Carndonagh to visit his mother Mai, his brother and sisters and extended family.   His father Benny died in 2008, yet despite all this heartache, Joe T continued to strive to improve the quality of life for people with disabilities across the board.

As CEO of MDI, Joe T focused a lot of his energies in developing unique services for the organisation and gave his time way beyond the call of duty.  Since July 2001, he had been the main driving force in bringing MDI to a new chapter in the history of the organisation, with the planning, development and opening of a unique and brand new resource centre of excellence and respite facility for people with neuromuscular conditions in Ireland.   Joe T insisted on playing a full “hands-on” approach from day one in the development of this new facility and throughout the actual construction of this premises in Chapelizod he was on the building site most days, even on the coldest days of Winter 2010, overseeing, insisting and arguing with architects and builders to ensure that the highest level of accessibility would be achieved for all disabilities, and the proof can now be seen in the fabulous premises which became the new and permanent Head Office for Muscular Dystrophy Ireland in April 2011.  This new space is now also Ireland`s first National Resource Centre for Neuromuscular Conditions and in addition, it incorporates a fully independent and wheelchair accessible “Home from Home” self-catering apartment facility which is available for short term stays for people with a physical or sensory disability.

Joe T’s work within the disability sector extended way beyond his employment with MDI.  Up to his untimely passing, he was actively involved as a volunteer at community level with a number of local organisations, some of which he was a founding member of.  He had been actively involved with the Centre for Independent Living since its conception in 1992 and had sat on various boards (on a voluntary basis) over the years.  He was also the first manager of “Vantastic” a wheelchair accessible transport service which was established in 1994 and he held this position until 1996, when he became manager of the then newly formed “Independent Living Community Service” – a joint company between Centre for Independent Living and Rehab. Here he remained as manager until 2001 before becoming CEO of MDI.

Despite his work commitments, Joe T still found time on a voluntary capacity to set up the Lucan Disability Action Group (LDAG) in October 2000 to help address the needs of people with disabilities in the Lucan area where he had lived for the past 17 years.  Services provided by LDAG include transport, advocacy and Personal Assistants / Note Takers for students with a disability in third level education. This organisation has grown from strength to strength over the years and Joe T served here as Chairperson since its foundation.  He was also a founding member and Chairperson of West Dublin Disability Services (WDDS), another disability services organisation which is also based in Lucan. WDDS is a Community Employment Scheme which trains participants to become fully qualified Care and Personal Assistants for people with disabilities.

Joe T was also a board member of the Disability Federation of Ireland since 2001 and in 2014 he was re-elected for a further three years to serve on this Board, where he actively engaged in influencing policy and best practice within the disability sector.

Through his work and involvement with organisations such as the above and as a result of his foresight for the progression and development of disability services, I believe that it can be stated without question that Joe T was also responsible for the creation of at least 50 plus jobs within the disability sector.  Such a vision would have had a great influence on the lives of many individuals from beyond the disability community through the creation of such employment opportunities.  This foresight therefore demonstrates just how much of an impact Joe T’s vision will have had on the lives of everyone whom he worked with.

Disability issues always remained high on Joe T’s agenda and because he understood that people with disabilities may need assistance at any time, day or night, he insisted on being available 24/7 to MDI’s membership (and beyond) and his mobile phone was therefore never switched off.

The news of Joe T’s passing came as a devastating shock to me and to our fellow colleagues, peers and friends.  He was not only the CEO of MDI.  He was a colleague, a mentor, a peer, a disability activist, a gentleman and a true friend to many within our organisation.  He was also an exceptional individual with a real and unique positive vision for change, a tireless campaigner for disability rights, and a man of real hands on action who would always strive to help to improve the quality of life for anyone who was fortunate enough to have met him through his work with MDI and beyond.

Joe T’s legacy will undoubtedly extend beyond his devoted and tireless work for the members of Muscular Dystrophy Ireland.   For many years, he was a leading representative and advocate pushing boundaries, and challenging the status quo for the rights of people with disabilities in Ireland.  That lasting impact will be felt right across the country for a very long time to come.

On behalf of Muscular Dystrophy Ireland, its community and staff, I would like to express my deepest sympathy to Joe T’s family – his wife Aisling, his mother Mai, his sisters Anna, Judy and Marie, his brother Paschal and to his relatives and many friends.

Ar dheis Dé go raibh a anam.

Hubert McCormack
Administrator – MDI,
Colleague & Close Friend  

All Ireland Conference

May 16th, 2015

Muscular Dystrophy UK and Muscular Dystrophy Ireland

All Ireland Information Sharing Day

Riddell Hall, Queens University, Belfast (Riddell Hall)
Saturday 16th May 2015 from 10am – 5pm (Registration 9.30am)
This is the second cross border conference on neuromuscular conditions in Ireland. The purpose of this event is to share information and research news between Muscular Dystrophy UK and Muscular Dystrophy Ireland..

  • Internationally esteemed speakers include Professor Francesso Muntoni, Aoife Bradly (Genetic Counsellor), Professor Eileen Treacy and Dr. Ros Quinlivan.
  • Afternoon workshops will take place on Disability Sports and Independent Living.
  • Activities for children from 6 to 16 years will be available. Please pre-book this facility by Friday 8th May.

For further information please contact:
Demelza Stuart
Advocacy & Information Officer
MD Northern Ireland
Tel: +44 7801047977 or +44 2890644983
Clair Kelly
Information Officer
Muscular Dystrophy Ireland
75 Lucan Road, Chapelizod, Dublin 20
Tel: +353 (0)1 6236414

Judy Windle Obituray

August 24th, 2014

Judy Windle – Obituary

It was with great sadness to all at Muscular Dystrophy Ireland (MDI) to learn of the sad passing today (24th August 2014) of former Chairperson and Executive Board Member of MDI, Mrs Judy Windle.

Judy has been involved with MDI since 1974 and has served at all key executive level positions with MDI since first becoming involved with the organisation.  She held the positions of Chairperson, Vice-Chairperson and Secretary with MDI for over 25 years and also represented MDI at European level simultaneously, where she held posts such as President and Secretary General of the European Alliance of Muscular Dystrophy Associations (EAMDA).

She was a founder member of the Dublin branch of Muscular Dystrophy Ireland in the mid 1970’s and was also instrumental in helping to shape the future development and direction of MDI, which now provides information and support services to 675 people living with muscular dystrophy in Ireland, as well as funding medical research.

Judy Windle -R.I.P

Judy Windle -R.I.P

MDI is now a well established, member led, non profit organisation and it is because of the hard work, tireless commitment and endless dedication of people such as Judy which has helped to ensure that research and support services for people with neuromuscular conditions will always remain a priority for MDI and be part of the public agenda.

Judy’s passing marks the end of an era for Muscular Dystrophy Ireland. She will be sadly missed by everyone involved with MDI and we would like to express our deepest sympathy and condolences to her daughter Siobhan, sons Henry and Nicholas and all the Windle family at this sad time.  Our thoughts and prayers are with you.  Rest in peace Judy.

Cavan, Monaghan, Louth Head Office - Dublin, Kildare, Wicklow Cork and Kerry Carlow, Kilkenny, Waterford, Wexford and Tipperary South Clare, Limerick and Tipperary North Laois, Longford, Offaly & Westmeath Galway, Mayo & Roscommon Donegal, Sligo, Leitrim
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1. Muscular Dystrophies

  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Manifesting carrier of Duchenne
  • Congenital muscular dystrophy - General
  • • MDC1A (merosin-deficient congenital muscular dystrophy)
  • • Rigid spine syndrome (RSS)
  • • Ullrich congenital muscular dystrophies
  • • Bethlem myopathy
  • Emery-Dreifuss muscular dystrophy

2. Myotonic Disorders

  • Congenital Myotonic Dystrophy
  • Myotonia
  • Myotonic Dystrophy

3. Congenital Myopathies

  • Central Core Myopathy
  • Minicore (Multicore) myopathy
  • Myotubular or Centronuclear myopathy
  • Nemaline myopathy

4. Mitochondrial Myopathies

  • Mitochondrial Myopathies

5. Metabolic Disorders

  • Metabolic disorders (general)
  • McArdle’s Disease
  • Pompe’s Disease

6. Periodic Paralyses

  • Periodic Paralyses

7. Autoimmune Myositides

  • Polymyositis, Dermatomyositis and Sarcoid myopathy
  • Juvenile dermatomyositis
  • Inclusion body myositis

8. Spinal Muscular Atrophies

  • Severe (Type I)
  • Intermediate (Type II)
  • Mild (Type III)
  • Adult spinal muscular atrophy

9. Hereditary Motor and Sensory Neuropathies

  • (Also known as Charcot-Marie-Tooth or Peroneal muscular atrophy)

10. Disorders of the Neuromuscular Junction

  • Congenital myasthenic syndromes
  • Myasthenia Gravis

11. Friedreich’s Ataxia

  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle types of muscular dystrophy (LGMD) - General
  • • LGMD 1B (also known as Laminopathy)
  • • LGMD 1C (also known as Caveolinopathy)
  • • LGMD 2A (also known as Calpainopathy)
  • • LGMD 2B (also known as Dysferlinopathy)
  • • LGMD 2I
  • Ocular myopathies including ocularopharangeal muscular dystrophy

12. Other (Please Specify)

13. Unspecified