ROMMER
Condition

Spinal Muscular Atrophy (SMA)

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What Is Spinal Muscular Atrophy (SMA)?

Spinal muscular atrophy (SMA) is a genetic neuromuscular disease caused by mutation of the SMN1 gene, resulting in degeneration of the motor neurons in the spinal cord. As a result, voluntary muscle groups gradually weaken and lose their function. SMA is one of the most common genetic causes of infant mortality. With the new generation of disease-modifying treatments (nusinersen, onasemnogene abeparvovec, risdiplam), the life expectancy and quality of life of patients have increased significantly.

Types of SMA

  • SMA Type 1 (Werdnig-Hoffmann): Most severe; symptoms appear before 6 months of age, and without treatment patients cannot sit independently.
  • SMA Type 2: Patients can sit but cannot walk; symptoms appear between 6–18 months of age.
  • SMA Type 3 (Kugelberg-Welander): Patients can walk; symptoms appear after 18 months of age.
  • SMA Type 4: Adult onset; mild clinical course.

Rehabilitation Approach at ROMMER

With the new generation of disease-modifying treatments significantly changing the natural history of SMA, rehabilitation has become even more critical for maximising the functional gains achieved by these treatments:

  • Respiratory Physiotherapy: Respiratory muscle support exercises, secretion management, and cough assistance techniques (manual, mechanical) are planned to protect respiratory capacity.
  • Motor Skill Development: Sitting balance, trunk control, transition movements, and upper limb functions are worked on according to the child's motor level.
  • Hydrotherapy: Thanks to the buoyancy of water, muscle strengthening and range of motion exercises can be performed with less effort.
  • Contracture Prevention: Regular stretching programmes and appropriate positioning techniques prevent joint stiffness.
  • Orthotics and Assistive Technology: Spinal orthoses for scoliosis management, ankle-foot orthoses, power wheelchairs, and communication devices are provided.
  • Nutritional Support: Dysphagia management and adequate calorie/nutrient intake are monitored in collaboration with the dietician.

Multidisciplinary Approach

SMA management requires a comprehensive team including physiotherapist, pulmonologist, cardiologist, dietician, speech-language therapist, and orthopaedic surgeon. At ROMMER, a treatment plan tailored to the family's needs and the child's current goals is prepared together and regularly updated.

Frequently Asked Questions

How does SMA rehabilitation differ from other neuromuscular diseases?+
SMA management requires a very specific approach that carefully balances respiratory support, contracture prevention, and functional development. With new disease-modifying treatments, there is now much more room for motor gains — rehabilitation must be planned in coordination with the medical treatment to capitalise on this window.
What exercises can children with SMA do?+
The exercise programme is individualised based on SMA type and motor level. Hydrotherapy, gentle stretching, trunk and upper limb exercises, and technology-assisted activities can all be incorporated. Importantly, exercises must avoid overloading already weakened muscles.
How often is respiratory physiotherapy needed?+
This depends on the child's respiratory capacity. Children with SMA Type 1 and 2 typically need daily respiratory physiotherapy, including secretion clearance and breathing exercises. Pulmonary function tests guide the frequency.
What about scoliosis in SMA?+
Spinal scoliosis is very common in non-ambulatory SMA patients. Spinal orthoses can slow progression in younger children. Surgical correction is considered when the curve is significant and respiratory function is adequate for surgery.

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