Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA)

What is spinal muscular atrophy?

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.

What causes SMA?

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.

Medical treatment for SMA

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.

How can we help at Complete Neuro Rehab in the treatment of SMA?

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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