What is SMA?
Spinal Muscular Atrophy (SMA) is a hereditary neuromuscular disorder caused by mutations in the SMN1 gene, resulting in degeneration of motor neurons in the spinal cord and progressive muscle weakness. SMA is classified into types 1–4 based on age of onset and severity, with SMA type 1 being the most severe (onset before 6 months).
SMA at Eber: Multidisciplinary Treatment
| Component | Detail |
|---|---|
| SMN-targeted therapy coordination | Nusinersen (Spinraza), risdiplam, or gene therapy (onasemnogene) — coordination with treating neurologist |
| Respiratory management | NIV (non-invasive ventilation), cough assist, pulmonary rehabilitation |
| Robotic rehabilitation | Preservation of motor function; targeted muscle strengthening; gait training for ambulatory SMA |
| Nutritional support | Swallowing evaluation, PEG feeding coordination for non-ambulatory SMA types |
| Orthopedic management | Scoliosis monitoring and correction, contracture prevention, splinting |
| Speech therapy | Communication, swallowing, AAC (augmentative communication) for severe SMA |
| TCM (Spleen-Kidney tonification) | Moxa therapy; herbal medicine targeting muscle atrophy syndrome; improves Qi and blood supply to muscles |
SMA and Pediatric Care at Eber
Eber Medical Group accepts SMA patients from 6 months of age. The pediatric team works closely with Dr. Chen Qiu (Pediatric Orthopedics) for scoliosis and musculoskeletal management, while neurologists manage disease-modifying therapy and rehabilitation teams address motor function preservation.