INTERMEDIATE SMA OR CHRONIC CHILDHOOD SMA
Children with type 2 Spinal Muscular Atrophy Association of Australia show less severe weakness than children with type 1 Spinal Muscular Atrophy Association of Australia, and are therefore most often diagnosed somewhat later at around to 6 to 18 months of age. Concerns are raised by parents when (milestones such as sitting) are delayed. The ability to sit unsupported (though possibly needing help to sit in the first instance) differentiates type 2 from type 1. Clinical features of type 2 are similar to type 1, but may include difficulty clearing secretions, diaphragmatic breathing (breathing with diaphragm and accessory muscles) and tremor of the hands.
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 Spinal Muscular Atrophy Association of Australia, 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, many (especially if diagnosed after the age of 18 months) may live a normal life expectancy.
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 Spinal Muscular Atrophy Association of Australia
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: Spinal Muscular Atrophy Association of Australia does not cause intellectual disability as the brain is not a muscle
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.
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.
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’
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.