Ally Cadence Trust for Spinal Muscular Atrophy
0800 23 43 762
0333 44 43 762
" Supporting families affected
  by SMA Type 1 "
" Supporting families affected
  by SMA Type 1 "
0800 23 43 762
0333 44 43 762
0800 23 43 762
0333 44 43 762
" Supporting families affected by SMA Type 1 "

Spinal Muscular Atrophy Type 1

ACT for SMA Butterfly Logo
SMA Type 1, also known as Floppy Baby Syndrome, severe Infantile Spinal Muscular Atrophy and Werdnigg Hoffman Disease, is the most severe form of the disease and is generally picked up by the time a child reaches 6 months old.
Typically a life expectancy of 2 years is given, however we are seeing changes since the introduction of the treatment Nusinersen - Please see the SMA UK's Website for more details on this drug, and the trials that have taken place.
Muscle weakness can result in problems with feeding, swallowing, breathing and moving. A common cold can easily turn into pneumonia which can sometimes result in respiratory failure. 
Because children with SMA are 'tummy breathers' it is important to sit them in a position which allows them to breathe easily (ideally around 30-40 degrees).  This can cause a problem whilst travelling in a traditional car seat, and as such we would recommend the use of a more specialist seat which we can provide for you.
Children with SMA Type 1 have limited movement, however, their brains are completely unaffected and they communicate through their big beautiful eyes and beaming smiles. They are very alert and seem to make up for their physical disabilities with their facial expressions, and they love to play just like any other child.
Playing includes sensory toys that are lightweight, brightly coloured and much easier to hold than many other toys. Looking at toys with bright lights and watching television programs are also among favourite activities. Babies can be sat up at a good position in a bean bag, a 30 to 40 degree angle seems the be the best position for most. This position allows them to look around freely and sit up enough to play with toys on an arch above them, whilst being able to breathe more easily. We have a variety of sensory toys that may be available for loan.
Causes of SMA Type 1
The absence or abnormality of the SMN1 gene results in production of low levels of the SMN protein, which is essential for the survival of motor neurons. SMA affects these motor neurons in the spinal cord, which are called anterior horns cells. Messages travel from the brain, down the spinal cord, through these horn cells and along motor neurons to the muscles, which are then told to move.
In a person with SMA, these messages cannot get through as they should as the anterior horn cells cannot provide an effective link between the brain and the muscles. This means the ability to control the muscles gets less and less to the point where they get weak and waste away. In general the higher the level of SMN protein and later onset of symptoms the less severe the SMA is.
Symptoms of SMA Type 1
Children with this type of SMA are usually very floppy and this can be evident within a few weeks of birth. Many mothers recall their baby being less active in pregnancy.
There is significant weakness of the neck which makes it difficult for a child to hold its head up. Children with Type 1 are unable to sit unsupported and have difficulty in rolling over. Weakness in the chest muscle can be very noticeable by watching how the child breathes, many appear to breathe from their tummy rather than from their chest.
Another noticeable sign is tongue fasciculations (flickering), although this can be so slight that a parent wouldn't notice it until they made a conscious effort to look for it as a symptom. Other possible symptoms include; recurrent chest infections, having a weak cry or cough, and having sweaty hands. Constipation can be a common problem along with excess drooling (secretions)
Here is a short list of typical signs and symptoms of SMA Type 1:
  • Being generally floppy / hypotonia
  • Legs lying in the "Frogs Leg" position
  • Little or no movement of the legs (this does not always include the feet)
  • Reduced movement or control of the arms
  • "Bell Shaped" torso, caused by breathing using muscles around the tummy area
  • Having fists clenched a lot
  • Head often tilted to one side, even while lying down
  • Recurrent chest infections
These symptoms can vary in severity depending how advanced the SMA is in each child, some may not show up till later. Many of the symptoms listed above are also symptoms of other diseases so do not panic straight away if a child in your family shows many of these signs. If you are worried that a member of your family may have Spinal Muscular Atrophy, please visit our contact page and get in touch to explain your concerns.

Although we do not have any medical training we can give you our opinion based on past experience and also offer advice on the best way to look into things further.
Diagnosis of SMA Type 1
Spinal Muscular Atrophy Type 1 is diagnosed through a simple blood test which looks for the absence of the SMN1 gene. Occasionally doctors may also want an EMG (Electromyography) and/or muscle biopsy to be carried out.  An EMG  is a technique used for evaluating and recording the electrical activity produced by the skeletal muscles.

Treament of SMA Type 1
Although research into SMA is progressing everyday there is currently no known cure. There is a treatment available, known as Spinraza, which may help to prolong life expenctancy - more details for this can be found via the SMA Trust's Website.
There are lots of things that can be done to help make life more comfortable and enjoyable;

Tube Feeding
Because babies are at risk of aspirating, due to the difficulty in swallowing, feeding may have to be done via a NG tube of a G tube. An NG tube is passed through the childs nose and goes down into the stomach, whereas a G tube is surgically placed through the skin and directly into the childs stomach. By feeding this way you can be sure of exactly what your baby is getting and massively reduce the risk of baby aspirating into their lungs.

Water Therapy
Water therapy is very good for SMA babies. The buoyancy of the water allows them to move their arms and legs freely which can be very enjoyable for both parent and child, however, extra care must be taken to ensure the child does not aspirate on the water.

There may become a time when oxygen is needed. This could just be at night time, or it could be permanent. The hospital will arrange, if needed, for oxygen to be installed in your home. You will also be provided with smaller oxygen bottles to allow freedom to go out as you like.

If your baby is in hospital and it is felt there is a need for suctioning this will be done by the physiotherapist or nurses using a suction machine. A small tube is passed through the nose which then suctions secretions off the chest. It is possible to have a portable suction machine for use within the home but it is very important that this is used to remove secretions from within the mouth only.

Physiotherapy can help to shift secretions off the baby's chest. The exercises that are done are very important as they help to reduce the effects of chest infections. Also exercises on the arms and legs can help improve circulation which is important because of the lack of movement. Babies positions should also be changed regularly to help with their circulation.
Available Help
The Ally Cadence Trust can be contacted at any time of day on our freephone number. If you are worried your child has SMA, you have questions regarding SMA or you just need support/someone to talk to please phone us. We can also put you in touch with your local SMA support family. Please see our Contact Us page for details.
We know how important it is to provide a quick response upon diagnosis, and we will happily provide support to anywhere within the United Kingdom, including home visits, as soon as you are ready. We stock various items of equipment that we can both give and loan out to families upon diagnosis (completely free of charge).  For more information on the items we can provide please click here.

Other Types of SMA

For details on other types of SMA please click here.

Sign up for our newsletter...
First Name:
Last Name:
We will not share your e-mail address with anyone
Make a monthly donation
I would like to donate £
per month, to ACT for SMA.
Please Gift Aid my donation.

 Monthly Donate Advert
Make a donation
I would like to make a donation
of £ to ACT for SMA.
Please Gift Aid my donation.

 Card Logos