Key result
Spinal muscular atrophy type III is linked to an 18-year longer diagnostic delay versus type II.
Why the study?
To understand the diagnostic process of Korean patients with spinal muscular atrophy by analyzing their clinical characteristics and challenges.
Observational (n=38)
No
Absolute Event Rate: 21% vs 3%
p-value: p=0.021
Korean patients with spinal muscular atrophy, particularly those with type III, experience significant diagnostic delays and frequent misdiagnoses, highlighting the need for improved awareness and early genetic testing.
Supports targeted education to reduce diagnostic delays in SMA type III; leaves open prospective evaluation of interventions.
Purpose: Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by the loss of motor neurons in the spinal cord and brainstem, leading to muscle atrophy and weakness.To understand the diagnostic process of Korean patients with SMA, we analyzed their clinical characteristics and challenges. Materials and Methods:We conducted a retrospective study of 38 patients with SMA (9 type II and 29 type III) between January 2000 and September 2023.Clinical, laboratory, and genetic data were reviewed. Results:The median ages at symptom onset and diagnosis were 3.0 years [interquartile range (IQR): 1.0-7.3years] and 25.0 years (IQR: 10.5-37.3years), respectively.The median diagnostic delay was 19.6 years (IQR: 6.4-31.0years).A significantly longer delay was observed in SMA type III patients (median: 21.0 years, IQR: 11.0-31.0years) compared to SMA type II patients (median: 3.0 years, IQR: 0.9-21.0years) (p=0.021).No significant difference was observed in the number of clinic visits before diagnosis between patients with SMA type II (median: 2.0, IQR: 1.0-4.5)and those with type III (median: 2.0, IQR: 2.0-6.0,p=0.282).The number of clinic visits before diagnosis showed no significant association with the age at symptom onset and diagnosis (p=0.998 and 0.291, respectively).Conclusion: Our investigation is the first examination of the diagnostic journey of Korean patients with SMA.As treatments for SMA progress, the significance of an accurate diagnosis has increased, highlighting the importance of reviewing the diagnostic advancements made thus far.
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Kim et al. (2024) conducted an observational in Spinal muscular atrophy (n=38). Spinal muscular atrophy type III vs. Spinal muscular atrophy type II was evaluated on Diagnostic delay (duration between symptom onset and age at diagnosis in years) (p=0.021). Patients with spinal muscular atrophy type III experienced a significantly longer median diagnostic delay of 21.0 years compared to 3.0 years for patients with type II.
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