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Spinal Muscular Atrophy Symptom and Therapy Options

Aug 01st, 2023 | by Yvonne Lam

Yvonne Lam

August 01st, 2023

What is Spinal Muscular Atrophy (SMA)?

Spinal muscular atrophy is a genetic disorder that affects the central and peripheral nervous system by progressively destroying specialized nerve cells called motor neurons that control essential skeletal muscle activity. There are 5 types of SMA that are based on the age when an onset of symptoms develop. Different types can also be based on which muscle groups are most affected, with those most proximal (such as respiratory muscles) leading to more severe complications.

What is the Cause of Spinal Muscular Atrophy?

SMA is caused by a change in a gene called ‘survival motor neuron 1’ (SMN1). There are normally two copies of the SMN1 gene, with one inherited from each parent, but people with SMA have a gene change in both. Mutations and missing genes are then classified as different types of SMA.

What Are Some Signs and Symptoms of Spinal Muscular Atrophy?

Symptoms can vary based on the type of SMA. Some symptoms can be noticeable within the first six months of life whereas milder symptoms can present when the child is 18 months or older.

Children with SMA can present with:

 

What Are Some Treatment Options for Spinal Muscular Atrophy?

There is currently no complete cure for SMA. However, there has been some development of several treatment options (such as drugs) that affect the genes involved in SMA. Early multidisciplinary treatment can help the child reach their full potential. Therapy for children with SMA would be aimed at increasing participation with the environment and peers as well as increasing independence in functional activities.

  • Occupational therapy may focus on improving upper body function, fine motor skills, posture and coordination to learn new skills and participate in day-to-day activities.
  • Physiotherapy might focus on improving muscle tone, developing muscle strength and endurance and walking with adaptive gait trainers.
  • Speech and language pathology can address different ways of communicating and swallowing impairments.

 

About the Author

Yvonne grew up in Hong Kong and moved to Sydney to study physiotherapy, intrigued by the idea of using movement and therapy to help others get better. She’s always loved being around children and when she went on some paediatric placements during university, she realised that paediatrics was for her. She loves the complexity and the diversity of this field and enjoys working closely with families to help children reach their goals. Outside of work, Yvonne loves sketching and watercolour painting, meeting up with friends, playing badminton and discovering new sights to see while soaking up the sun.

About NAPA Centre 

NAPA Centre provides paediatric therapy services to children diagnosed with Spinal Muscular Atrophy. Learn more about treatment options in this blog post.NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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