The impact of disease-modifying therapy ranges from cure to no impact with a wide range of intermediates. In cases where the intermediate group reaches a plateau after the acquisition of some muscle strength, it is necessary to set a functional level appropriate for increased motor power and establish a long-term exercise plan to maintain it. As the disease status stabilizes and the life span increases, early nonsurgical interventions are required, such as using a standing frame to prevent joint contracture, applying a spinal brace at the early stage of scoliosis, and maintaining sitting postures that exaggerate lumbar lordosis. In cases where scoliosis and hip displacement occur and progress even after conservative managements are implemented, early referral to surgery should be considered. Oromotor activity and swallowing function are influenced not only by the effects of disease-modifying drugs, but also by post-birth experience and training. Therefore, although the feeding tube cannot be removed, it is necessary to make efforts to simulate the infant feeding development while maintaining partial oral feeding. Since the application period of non-invasive ventilators has increased, it has become more important to prevent long-term complications such as facial abrasion, skin allergy, orthodontic deformities, and maxillary flattening caused by the interface. Dual ventilator mode or interface can also be utilized.

Citations

• Immediate and Sustained Effects of Intensive Equine-Assisted Physiotherapy Based on Neuroproprioceptive “Facilitation and Inhibition” on Psychomotor Development, Clinical Functions, Quality of Life, and Molecular Biological Indicators in Children With Spi
  Katerina Marikova, Jindra Reissigova, Miloslav Vilimek, Marie Cerna, Marketa Pokorna, Kamila Rasova
  JMIR Research Protocols.2026; 15: e83266.     CrossRef
• Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategies
  Linda Ottoboni, Chiara Panicucci, Giulia Magni, Delia Gagliardi, Michela Ripolone, Laura Napoli, Maurizio Moggio, Giacomo Pietro Comi, Claudio Bruno, Stefania Paola Corti
  Neurobiology of Disease.2026; 221: 107324.     CrossRef
• The role of rehabilitation in the development of motor skills in patients with spinal muscular atrophy 5q receiving pathogenetic therapy
  Yuliya O. Papina, Aleksandr R. Stevanovich, Evgeniya A. Melnik, Svetlana B. Artemyeva, Dmitry V. Vlodavets
  L.O. Badalyan Neurological Journal.2026; 6(4): 209.     CrossRef
• The role of rehabilitation in the development of motor skills in patients with spinal muscular atrophy 5q receiving pathogenetic therapy
  Yuliya O. Papina, Aleksandr R. Stevanovich, Evgeniya A. Melnik, Svetlana B. Artemyeva, Dmitry V. Vlodavets
  L.O. Badalyan Neurological Journal.2026; 6(4): 209.     CrossRef
• Persistent deficits in the motor unit following mono and dual administration of SMN up-regulators in the SmnΔ7 mouse model of spinal muscular atrophy
  Inga Partlova, Laura H. Comley, Alice E. Haigh, Paloma Serena Tarodo, Lyndsay M. Murray
  Experimental Neurology.2026; 404: 115898.     CrossRef
• Short-term and long-term outcomes of transcutaneous spinal cord stimulation in SMA: findings from consecutive courses
  Natalia Shamantseva, Anton Novikov, Maria Maldova, Ivan Shalmiev, Margarita Bystrova, Natalia Krutikova, Tatiana Moshonkina
  Journal of Neural Engineering.2026; 23(4): 046013.     CrossRef
• Physical and Respiratory Rehabilitation in Spinal Muscular Atrophy: A Critical Narrative Review
  Serena Cammarano, Vincenzo Alessio Chirico, Benedetto Giardulli, Giovanna Mazzuoccolo, Carlo Ruosi, Bruno Corrado
  Applied Sciences.2025; 15(8): 4398.     CrossRef
• Treatment Guidelines and Rehabilitation in Spinal Muscular Atrophy and Duchenne’s Muscular Dystrophy
  Eleni Drakou, Sarah Wright, Leslie D. Delfiner, David Cancel
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• Management of Hip and Spine in Neuromuscular Disorders
  Unwana Abasi, Abigail Allen, Coral Candelario-Velazquez, Sheena Ranade, David Cancel
  Physical Medicine and Rehabilitation Clinics of North America.2025; 36(3): 429.     CrossRef
• Multimodal Analysis of Biomarkers for SMA - Data from the First Six-Month Nusinersen Follow-Up
  Corina Sporea, Mihaela Axente, Gabriel Cristian Bejan, Andrada Mirea, Mihaela Badina
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• The effect of thoracolumbosacral orthosis on scoliosis progression and chest deformity in children with type 1 spinal muscular atrophy: A randomized controlled trial
  Emre Dansuk, Ayşe Nur Tunalı Van Den Berg, Görkem Ata, Seval Kutluturk Yıkılmaz, Sedat Oktem, Taher Babaee
  PLOS One.2025; 20(9): e0323341.     CrossRef
• Spinal Muscular Atrophy (SMA)
  Kaitlyn Rodriguez, Mara Karamitopoulos
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Objective
To describe the classification and prognosis of the patients with spinal muscular atrophy (SMA).

Method: The medical records of thirty one patients, who were diagnosed as SMA by electromyography or muscle biopsy from January 1987 to December 1999, were reviewed retrospectively. Classification of SMA was mainly based on age at onset and achieved milestones.

Results: Patients with SMA type I, II and III were 17 (54.8%), 7 (22.6%) and 3 (9.7%) respectively. Four patients were unclassifiable due to functional improvements. Two patients who were classified as SMA type I, had achieved ability to sit unaided at last follow up (at 20 months and 24 months old). Two patients who were classified as SMA type II, could walk independently at last follow up (at 34 month and 26 years old). In three of SMA type I patients, functional improvements of rolling over and head control were achieved.

Conclusion: Classification of SMA based on age at onset and achieved milestones was helpful in prediction of prognosis. But 12.9% of SMA patients were not classifiable due to unexpeceted functional improvement. (J Korean Acad Rehab Med 2003; 27: 38-42)

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular atrophy have been identified and named as survivor motor neuron (SMN) and neuronal apoptosis inhibitory protein genes. The clinical symptoms, courses and evaluation findings of proximal SMA type III are similar to those of distal SMA and proximal muscle myopathies such as limb girdle muscular dystrophy and fascioscapulohumeral muscular dystrophy. It cannot be diagnosed with muscle biopsy and electromyographic findings exclusively. In our case, the patient showed similar clinical manifestations of distal SMA. So we couldn't diagnose this case as SMA type III until we detected SMN 1 gene deletion. This case could be a good model for diagnostic approach to SMA type III and differential diagnosis to similar diseases. (J Korean Acad Rehab Med 2007; 31: 113-118)