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SMA (spinal muscular atrophy)

August is Spinal muscular atrophy awareness month, commonly known as SMA. We believe its important to raise more awareness for this disease, as many of our clients suffer from this life limiting genetic condition. The goal of SMA awareness month is it show support to families, raise awareness, educate the population, and generate funding to help find a cure.

What is SMA?

SMA damages the nerve cells in the spinal cord, and people with it lose the ability to walk, eat, and breathe over time as their nerve cells waste away. There are 4 types of SMA. Life expectancy for a person with SMA depends on what type they have:

Type 0 – This is very rare, symptoms begin prior to birth, seen in decreased movement. The infant will have severe weakness, difficulty breathing, feeding, and may have joint contractors and cardiac defects. The infants may survive a few months.

Type 1 – This is the most common type of SMA making up 60% of all SMA cases. It is usually diagnosed in the first 6 months. These babies will face many physical challenges including: muscle weakness, trouble breathing, coughing and swallowing. 61% of children with SMA type 1 pass away before their 2nd birthday and 82% before their 4th birthday.

Type 2 – This Type of SMA is usually diagnosed before 2 years of age, as there is a delay in meeting motor milestones. Children with type 2 can usually sit up without help, but will be unable to walk and will require a wheelchair. Over time they are likely to develop scoliosis resulting from weakness in muscles supporting the spine. The majority of children with SMA type 2 can live into early adulthood. And with proper care many are living well into adulthood.    

Type 3 – This is also known as Kugelberg-Welander disease or juvenile SMA. It is usually diagnosed before 3 years of age. However, can be diagnosed as late as the teen years. Children with type 3 will have increasingly limited mobility as the get older, and around 50% of children with SMA type 3 lose the ability to walk at 14 years old. People with type 3 SMA generally have a normal life expectancy.

Type 4 – SMA type 4 is extremely rare and only makes up only 1% of people with SMA. Type 4 usually isn’t diagnosed until people are adults mainly between the age of 18 and 35. Symptoms consist of progressive muscle weakness, scoliosis, muscle tremors, and twitching. Life expectancy is not affected by SMA type 4, and people with it can normally walk unaided until about 60 years of age.   

Who it affects?

SMA is genetic disease that can affect any family, often popping up in families that haven’t seen it before. It affects 1 baby in 10,000 births. It’s SMA is the leading genetic cause of death in babies under the age of 2.     

Treatment of SMA

There is currently no cure for SMA. However, there are treatments that can help to slow down the progression. Early intervention, with targeted therapies is very important given the progressive nature of this disease.

General care of SMA affected clients includes physical, occupational, and rehabilitation therapy to improve posture, joint mobility, and quality of life. These therapies also help with blood flow and slow muscle weakness.

Assistive devices can help patients stay more independent for as long as they can. This is where Active Rehab can help. We have a huge range of products Including but not limited to Strollers, wheelchairs, shower commodes, indoor seats, car seating, and much more. Our equipment is customised to each and every individual client. We want every client to be able to “Live Life” to the full and have as much independence as possible, as well as making life easier for those who work tirelessly to assist those suffering from SMA.

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