Spinal muscular atrophy (SMA)
is an autosomal recessive, neurodegenerative disease characterized by the progressive loss of motor neurons in the anterior horn of the spinal cord – and to a lesser extent, in the brainstem. The consequence is increasing muscle weakness and atrophy, particularly affecting the proximal (trunk-near) muscles. SMA is among the most common genetically caused diseases resulting in early childhood mortality.
The underlying cause is a mutation or deletion in the SMN1 gene (Survival Motor Neuron 1) located on chromosome 5q13, which is responsible for the production of the essential SMN protein. This protein is vital for the function and survival of motor neurons. The severity of the disease is significantly influenced by the number of functional SMN2 gene copies, which produce a less efficiently transcribed backup protein.
The disease is classified into four types (SMA Types 1–4), depending on the age at onset and the highest motor milestone achieved:
- SMA Type 1 (Werdnig-Hoffmann disease): Manifestation before 6 months of age, no ability to sit independently, often severe course with early respiratory insufficiency.
- SMA Type 2: Onset between 6 and 18 months, children can sit independently but typically never stand or walk unaided
- SMA Type 3 (Kugelberg-Welander syndrome): Onset after 18 months and into adolescence; patients learn to walk but often lose this ability over time.
- SMA Type 4: Late-onset, mild form in adulthood with slow progression.
Despite being primarily a motor disorder, secondary complications such as scoliosis, contractures, swallowing and breathing difficulties, and recurring infections can occur. However, intellectual development generally remains unaffected.
Diagnosis is now routinely performed using genetic testing, sometimes already included in newborn screening programs. Electrophysiological and imaging procedures serve as additional tools for functional assessment.
The Current State of Therapy
In recent years, the therapeutic landscape for SMA has fundamentally changed. Several causal therapies are now available:
- In recent years, the therapeutic landscape for SMA has fundamentally changed. Several causal therapies are now available.
- Risdiplam (Evrysdi®): An oral therapy that also promotes splicing of the SMN2 gene.
- • Onasemnogene abeparvovec (Zolgensma®): A one-time gene therapy that delivers a functional copy of the SMN1 gene via an AAV9 viral vector.
These therapies can stabilize or slow the progression of the disease – particularly when initiated early. However, they are not curative and show highly variable outcomes depending on the initial condition and timing of treatment.
Our Innovative Therapy Approach: Activation Through Neural Stimulation
In addition to existing genetic-pharmaceutical treatment options, we offer a non-invasive, complementary therapy that specifically stimulates neural activity. Our approach is based on modern methods of functional nerve stimulation, aiming to enhance neuronal excitability, activate preserved motor neurons, and support motor learning
Our therapy is intended for both children and adolescents with any type of SMA – regardless of whether drug therapy has been started. Through a combination of targeted electrical or sensorimotor stimulation, individually tailored programs, and accompanying movement therapy, existing motor resources can be strengthened, muscular function supported, and quality of life sustainably improved.
Particularly in patients whose progress with drug treatment has plateaued, or whose motor function needs further development in daily life, our method can make a valuable contribution. It can also serve as supportive treatment in post-therapeutic care (e.g., after gene therapy), helping to stabilize and expand newly acquired motor abilities.
Особенно у пациентов, у которых медикаментозное лечение перестает давать результаты или необходимо дальнейшее развитие двигательных функций в повседневной жизни, наш метод может сыграть важную роль. Он также эффективно применяется в посттерапевтическом сопровождении (например, после генной терапии) для стабилизации и расширения приобретённых двигательных навыков
Why is it Worth Trying?
Our therapy is not an alternative, but a targeted complement to existing treatment strategies. It offers new opportunities for SMA patients who actively seek to improve their quality of life – through gentle, targeted stimuli that reactivate the nerve-muscle system.
We support you and your child individually, with expertise, state-of-the-art technology, and great commitment..
Learn more about our method – and how we can walk a new path together.
