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Spinal Muscular Atrophy (SMA) is a genetic disorder that affects nerve cells so that muscles can't be used and become wasted, or atrophied.

SMA is a genetic disease and types I, II and III are autosomal recessive conditions meaning that if both your parents are carriers, you have a 1 in 4 chance of having the disease. SMA does not descriminate between gender or race . It's estimated that about one million people in the UK are SMA carriers (about one in 40 people) and around one in 20,000 babies are affected with type one SMA.  
 
SMA affects the nervous system in an area of the spinal cord called the anterior horn. The nerve cells become damaged, breaking the link between the brain and the muscles. As a result, the muscles do not recieve messages from the brain telling them to move therfore can't be used and waste away (become atrophied). This can lead to problems with breathing as physical activities including crawling, walking, feeding and head control.

The severity of the symptoms depends on the type of SMA.

Type I (Werdnig-Hoffman disease) 

Is the most severe. It may present it's self before birth or shortly afterwards (mothers may notice decreased movement of the foetus late in pregnancy), and affected babies are rarely able to lift their head or develop normal movement. Swallowing, feeding and breathing may be difficult, and the child rarely survives to the age of two.

Type II (moderate)

usually appears in the first couple of years. The child may reach adulthood, but they may need help to sit or stand, and strain on the muscles can cause complications.

Type III (Kugelberg-Welander disease)

Is milder form of SMA and may be diagnosed as late as adolescence. Those affected may have problems walking or getting up from sitting.

Adult-onset SMA 

Tends to present its's self very slowly, and it's not generally life-threatening. Symptoms are variable and depend on the muscles affected. Fatigue may be a problem, but the muscles used for swallowing and respiratory function are rarely affected. Adult-onset SMA may be inherited in other ways.

SMA with Respiratory Distress (SMARD1)

In SMARD1, the main symptom is severe respiratory distress due to a paralysis of the diaphragm. Most patients show symptoms between the age of 1 to 6 months with respiratory failure and progressive muscle weakness.

Currently, there's no cure or treatment for Spinal Muscular Atrophy, but supportive care, is very important, especially physio and to respiratory function (click below for further information on types of sma for supportive treatment of each type.)

Within affected families, once the abnormal gene has been identified, carriers can be detected by a blood test, and antenatal screening using CVS (chorionic villus sampling) is available.
 
PGD (Preimplanation Genetic Diagnosis) is also available for families who have suffered loss/ been affected by SMA .

View our fundraising activities, aswell as our upcoming events, previous events.

More information can be found on The Jennifer Trust website at www.jtsma.org.uk which is updated as more is learned about these inherited neuromuscular conditions.

The Annabellerose Foundation helps The Jennifer Trust to support and promote research into SMA. Please click on the link below:

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Registered Charity Number 1139272