Spinal Muscular Atrophy (SMA)

What is Spinal Muscular Atrophy?

Spinal muscular atrophy (SMA) is a genetic disorder that affects the control of muscle movement. It is caused by a loss of anterior horn cells (spinal motor neurons). Messages from the nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from them to specific muscles. Upper motor neurons instruct the lower motor neurons to produce movements in the arms, legs, chest, face, throat and tongue. This loss of spinal motor neurons means that there is a lack of nerve signal from the spinal motor neurons to bunches of muscle fibres. Having no nerve signal causes these groups of muscle fibres to waste away (atrophy) which leads to weakness of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. For more information about Spinal muscular atrophy click here

Standards of Care

The Guide to the 2017 International Standards of Care for SMA TREAT-NMD are available here. Clinicians, academics, health care professionals and patient representatives from Spinal Muscular Atrophy UK, Cure SMA, SMA Europe, Muscular Dystrophy UK and TREAT-NMD have used the 2017 care recommendations, to work together to produce a current and comprehensive medical guide for people with SMA and their families.

This user-friendly guide summarises the key recommendations outlined in these two scientific articles published in November 2017:

Diagnosis and Management of SMA: Part 1 Recommendations for diagnosis, rehabilitation, orthopaedic and nutritional care

Diagnosis and Management of SMA: Part 2.  Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

Further information about these standards can be found on the Treat-NMD page

Click here for the Treat-NMD Standards of Care 

Healthcare Professionals

Cure SMA in conjunction with Medscape Education recently launched a continuing education activity (CME), titled, "Optimizing Quality of Life of Patients With SMA". The aim of this CME is to enhance current awareness of SMA diagnostic requirements and increase health care providers’ understanding of existing and evolving treatment options in SMA, with an emphasis on the urgency of early treatment as it relates to improved outcomes and quality of life. 

The target audience for this education includes paediatricians, neurologists, and other clinicians who provide care to patients with SMA. Although some of these treatment options may not be available in New Zealand they are some really helpful resources available on the portal to help recognise and diagnose the early signs of SMA.

The module and website features materials created by Cure SMA for SMArt Moves, and can be accessed here: https://www.curesma.org/smartmoves/healthcare-professionals/

Useful Resources 

USA - www.smafoundation.org

Cure SMA - http://www.curesma.org/ 

Click here for Cure SMA's Breathing Basics - Respiratory care for children with SMA

Support Groups

Spinal muscular atrophy

This is a Facebook support group for people who have or know of people who have spinal muscular atrophy in New Zealand. A place to share information, ideas and offer support. Search SMA New Zealand on Facebook.

SMA Adult

This is Facebook group is hoping to address a lack of 'Adult' support for people with SMA. Everyone is welcome though discussion's should lean towards the issues people with SMA face later in life. You will need to join the group to see the posts. Search SMA Adult Support Group on Facebook.

Q&A: Here is where we answer some of our members questions. If you have any questions please email them to [email protected] and we will endeavour to answer them.