SMA is a genetic disease that effects the central nervous system. The spinal cord contains an amazing collection of nerve cells that work to control our muscles. SMA is known as a muscular disease as it primarily effects the muscles. Atrophy is a term used to describe the loss of muscle bulk due to the muscle reducing in size.
Chromosome 5 SMA (which is the most common form of SMA) is caused by a deficiency of SMN. SMN ‘survival of motor neuron’ is a motor neuron protein – it plays a big role in gene expression in motor neurons.
Spinraza has been approved for the treatment of SMA. It is a drug that has been designed to treat the underlying defect in SMA, therefore it may be useful in slowing, stopping or reversing the symptoms ofSMA.
Zolgensma is a gene-replacement therapy. It is a one-time IV infusion usually administered to children younger than 2 years old.
Rizdiplam has been approved for children and adults with SMA over the age of 2 years old. It is a medication that has been designed to enhance the production of a ‘backup’ gene known as SMN2.
We assess the condition on the first consultation and once our therapist has a thorough idea of the symptoms, they will work with you to devise a therapy plan.
Treatment plans may include:
· Stretches and positioning
· Postural re-education
· Movement activation on muscles that require strengthening
· Functional movement work such as rolling training
· Pilates based strengthening
· Transfer advice
· OMEGO therapy – a device we can use to move the limbs through passive and active range of movement without the need for full weight bearing. This is a fun and engaging therapy option with the opportunity for leg press style strengthening.
· Lite-Gait – body weight support
· Exercise therapy and support to complete home exercises.
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