Spinal Muscular Atrophy Type III (SMA-III)
Patient Condition
The patient developed difficulty walking and easily fell at the age of 5, and was diagnosed with SMA-III type at the age of 7. Genetic testing: homozygous deletion of exon 7 of SMN1 gene, and SMN2 copy number was 4. The patient was 12 years old at the time of diagnosis, could walk independently but had abnormal gait (wide-base gait), had difficulty going upstairs, and was positive for Gowers 'sign. The HFMSE score is 52 and the RULM score is 28. Respiratory function is normal. Mild scoliosis of the spine (Cobb angle 8 degrees). He had not received previous disease revision treatment and was only maintained with physical therapy.
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Evaluation and treatment option selection | ||
| Risdiplam oral treatment initiated | ||
| Rehabilitation enhancement and functional maintenance | ||
| Long-term maintenance and follow-up |
Treatment Outcome
| before | HFMSE 52, difficulty walking, difficulty going upstairs, positive Gowers sign, no disease modification treatment, and gradual decline in motor function |
|---|---|
| after | HFMSE 64 points, can climb stairs normally, the walking distance in 6 minutes is increased by 80 meters, motor function continues to improve, and daily life is completely self-reliant |
| highlight | Oral Risdiplam treatment increased motor function scores in patients with SMA-III by 23%, significantly improving exercise ability and quality of life |