Type 2 – Information

 

Type 2

(Intermediate SMA or Chronic Childhood SMA)

 

The onset of the symptoms of SMA type 2 is usually between the ages of seven and 18 months. Parents often notice that milestones such as sitting are delayed. These children do eventually develop the ability to sit unsupported but they may need some help to get into a sitting position. Some children with SMA type 2 are able to crawl or stand with assistance or bracing, but they usually never walk.

Weakness of the spinal muscles results in scoliosis (curvature of the spine) which may require bracing and eventually surgery. Shortening of the muscle (contractures) can restrict movement especially around the hip, knee and ankle joints. Usually the muscles used in chewing and swallowing are not significantly affected early on. The muscles of the chest wall are affected, causing poor breathing function and susceptibility to respiratory infections and complications.

Sometimes muscle weakness can seem to be non-progressive, but in most cases weakness and disability will slowly increase. Severe illness with prolonged periods of relative immobility, putting on excessive weight or growth spurts may contribute to deterioration in function.

Parents initially notice floppy or limb limbs (hypotonia), and while type 2 children may be able to stand with assistance or bracing, they usually never walk. Those who experience swallowing difficulty may also have difficulty maintaining or gaining weight, therefore assisted feeding with a nasogastric tube or a PEG may be required. Weakness of the spinal muscles may result in scoliosis (curvature of the spine), especially for those that are wheelchair bound. Muscle wasting in the limbs can result in stiffness (contractures). Physical therapy and orthopaedic intervention to reinforce the spine may be appropriate.

 

As with all forms of SMA, weakness increases over time though physical growth continues at a normal pace. There is a wide variation in symptoms. Severity and prognosis depends on the age of diagnosis and while some with type 2 die prematurely, but with the advancement of treatments ( like a cough assist machine) many type 2 children live well into adult hood, hold jobs, have relationships and  live happy lives.

Keeping the airways clear with the use of a cough assist machine at times of illness can greatly reduce respiratory illness recovery times. Bi Pap may also be an option for families wanting breathing support.

Always remember SMA is a physical disability only, their intelligence in not affected. Children with SMA type 2 are bright and alert and it is important that they receive all the available opportunities to develop their intellectual capacities to their fullest extent. They can attend a main stream school and it is often reported that children with SMA have an above average intelligence.

The symptoms of SMA type 2 include:
• Muscle weakness and poor muscle tone
• The legs tend to be weaker than the arms
• Some children have swallowing and feeding difficulties
• Increased susceptibility to respiratory tract infections
• Scoliosis (curvature of the spine)
• Deformities of the hands, feet and chest may develop in childhood
• Joints may be affected by tendon contractures which reduce movement of the limbs

 

 

FREQUENTLY ASKED QUESTIONS ABOUT TYPE II

 

Q: How long will my child survive?

A: This is an unknown with Type 2. Some children can live well into adulthood and others can be weaker & live less, a good respiratory plan is a great way to keep on top of any issues that may arise

 

Q: Will they get better over time?

A: Sadly No unless research finds a treatment for SMA

 

Q: What equipment will the child need?

A: Depending on the childs level it can range from standing frame, walker, manual wheelchair, power wheelchair AFO’s etc

 

Q: Is there any therapy?

A: At this stage there is no drug therapy as such however, keeping the child as activity as they can be through exercise etc i.e. swimming. Talk to you physio

 

Q: Has my child got an intellectual disability?

A: SMA does not cause intellectual disability as the brain is not a muscle. There for your child’s intelligence is unaffected.  Like all children they will thrive for information.

 

Q: My child is tired all the time is this normal?

A: The Child’s body and muscles are working twice as hard as other children therefore they will tire easy. It may be easier to schedule appointments or activities in the morning when you know they have had good rest before hand (like an overnight sleep).

 

Q: Can my child go to mainstream school?

A: There is no reason for your child not to be mainstreamed.  Talk to your local school about the different ways they can provide an accessible education for your child.  Many SMA children are high achievers

 

Q: What will we need to do around the home?

A: Modifications such as lifters ramps, toilet grab rails talk to OT and Physio about what is best for your child.

 

Q: Can my child do activities like their peers?

A: Yes it just takes the long road to do it not the short cut. Give them every opportunity to participate in ‘everyday activities’. Make sure you give your child every opportunity to participate in activities. If there is a way that it can be done the organisers will find it. There are lots of clubs that encourage participation form people with a disability. These include:- Riding for the disabled, Sailability, disabled flying. The sky’s the limit!

 

Q Who will be involved with my child? 

A: This may differ state by state.  Generally speaking there will be neurologist, spinal, respiratory, physio, occupational therapy, genetic counsellor, social worker etc

 

Q: Do I need to see a counsellor?

A: Counsellors are a very individual and personal thing.  Counsellors can provide individualised solutions to your family, and should be considered as an option.

 

 

 

Q:  All my friends and family can only see the disability?

A: Explain to your family/friends about the disease and how important it is for the child to have a normal life as possible.  Information is worth more than money. It is best to be upfront with these people than them thinking the worst or receiving wrong information on the ‘Chinese whisper’ grapevine.