Spinal Muscular Atrophy

Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a rare, genetic neuromuscular condition that is likened to the childhood version of Motor Neuron Disease. It progressively affects the nerve cells that control muscles, resulting in weakness and paralysis.. The condition can be classified into 4 types, graded depending on age of onset and motor function achieved.

Type 1 is the most severe, with a high mortality rate and is diagnosed in children before 6 months. Respiratory care forms the cornerstone of maintaining quality and length of life.

Type 2 is normally diagnosed between 7 and 18 months, and children have delayed developmental milestones like sitting, crawling and standing. Scoliosis (curvature) of the spine may also complicate physical function.

Type 3 and 4 are milder forms of SMA where children often are able to walk but have difficulties with running and balance. Sometimes issues only arise when they turn into adults.

Common challenges:

  • Weakness/ paralysis

  • Shortened muscles

  • Unable to roll

  • Unable to sit

  • Difficulty walking

  • Chest issues

  • Reflux, aspiration pneumonia

  • Delayed speech

The role of a paediatric neurological physiotherapist in SMA:

Infants with Type 1 SMA can benefit from developmental play. Recent advances in drug therapy for SMA has shown some exciting and promising results. Whilst Nusinersen (Spinraza) is certainly not a cure for SMA, early studies have shown some improvement of motor function in Type 1 SMA. Pediatric neurological physiotherapists are physiotherapists with additional training and expertise in treating problems related to the brain, spinal cord, inner ear and nerves that affect childhood development.

Paediatric neurological physiotherapists can assess and teach appropriate play positions to take advantage of any potential for improvement in function. Chest physiotherapy and use of inexsufflation devices are integral in managing complications such as pneumonia in Type 1 and 2. Postural transitions and gait training may be appropriate for Type 3 and 4 to improve strength, functional skills and endurance. Knowing what one can expect over the lifetime allows important decisions to be made earlier on to reduce secondary changes associated with SMA.

What we do for children and adults with SMA:

  • Family-centered and goal-focused care for children and adults with SMA

  • Provide you with a thorough understanding of the physical problems that come with your presentation and type of SMA

  • Design a personalised neurological rehabilitation, maintenance or chest physiotherapy program

  • Prescribe and teach you how to use appropriate equipment

  • Provide hands-on treatment to teach children and adults to move better or more efficiently

  • Educate you on how to best support their physical function over their lifespan

  • Liaise with Spinal Muscular Atrophy Australia to assist you in obtaining additional services

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Our Locations

Glen Waverley

101 Springvale Road,
Glen Waverley VIC 3150

Heidelberg

Cape Vue Building, Level 2/68
Cape St, Heidelberg VIC 3084

Highett

Shop 3-4, 487 Highett Road,
Highett VIC 3190