ROMMER
Condition

Spinal Muscular Atrophy (SMA)

By submitting this form, you acknowledge that you have read and accepted our Patient Information Noticeand Commercial Electronic Message Notice.

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.

Would You Like to Book an Appointment?

Our specialist team will create the most suitable treatment plan for you.

Contact Us
WhatsApp