Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients
Abstract Background Spinal muscular atrophy (SMA) is a genetic disease that causes muscle weakness and atrophy. Delayed diagnosis can lead to loss of motoric functions, which may then progress to deformities such as thoracolumbar scoliosis, pelvic obliquity, and hip subluxation/dislocation. The lack...
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| Format: | Article |
| Language: | English |
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BMC
2023-03-01
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| Series: | European Journal of Medical Research |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s40001-023-01098-3 |
| _version_ | 1797865182025744384 |
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| author | Dian Marta Sari Vitriana Biben Guswan Wiwaha Dany Hilmanto |
| author_facet | Dian Marta Sari Vitriana Biben Guswan Wiwaha Dany Hilmanto |
| author_sort | Dian Marta Sari |
| collection | DOAJ |
| description | Abstract Background Spinal muscular atrophy (SMA) is a genetic disease that causes muscle weakness and atrophy. Delayed diagnosis can lead to loss of motoric functions, which may then progress to deformities such as thoracolumbar scoliosis, pelvic obliquity, and hip subluxation/dislocation. The lack of information or limited experience among healthcare providers and costly genetic tests can cause delayed diagnosis. The current study aimed to assess the characteristics of patients with SMA. Moreover, the association between SMA type and delayed diagnosis and the risk of spinal deformity in the Indonesian SMA Community was evaluated. Methods This was a cross-sectional study performed on 53 patients diagnosed with SMA. Data about patients’ characteristics were obtained from the Indonesian SMA Community using a questionnaire in August 2019. The information included age, sex, SMA type, age at suspicion and definite diagnosis of SMA, and presence of spinal deformities. Then, descriptive analysis and logistic regression analysis were performed, and the Kruskal–Wallis test and the Chi-square test were utilized. Results The median age of patients suspected of SMA was 24 months. A definitive diagnosis of SMA was obtained at 36 months. Further, 43% of patients presented with SMA type 2 and 58% with spinal deformities. Results showed a positive correlation between time interval between suspicion and definite diagnosis of SMA and the risk of spinal deformities (B = 0,07; p > 0.05). Delayed diagnosis was more common in SMA type 3 than in SMA types 1 and 2, and SMA type 2 was correlated with a twofold risk of spinal deformities (p = 0.03; prevalence ratio = 2.09). Conclusions SMA type 2 is associated with a twofold risk of spinal deformities. Delayed diagnosis is more common in SMA type 3 than in SMA types 1 and 2. Moreover, there was an association between the time interval between suspicion and definite diagnosis of SMA and the risk of spinal deformities in patients with SMA. |
| first_indexed | 2024-04-09T23:05:01Z |
| format | Article |
| id | doaj.art-331ca8b0b95844008465d51a5a8ba1b7 |
| institution | Directory Open Access Journal |
| issn | 2047-783X |
| language | English |
| last_indexed | 2024-04-09T23:05:01Z |
| publishDate | 2023-03-01 |
| publisher | BMC |
| record_format | Article |
| series | European Journal of Medical Research |
| spelling | doaj.art-331ca8b0b95844008465d51a5a8ba1b72023-03-22T10:46:28ZengBMCEuropean Journal of Medical Research2047-783X2023-03-012811810.1186/s40001-023-01098-3Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patientsDian Marta Sari0Vitriana Biben1Guswan Wiwaha2Dany Hilmanto3Doctoral Study Program, Faculty of Medicine, Universitas PadjadjaranDepartment of Physical Medicine and Rehabilitation, Faculty of Medicine, Universitas PadjadjaranDepartment of Public Health, Faculty of Medicine, Universitas PadjadjaranDepartment of Child Health, Faculty of Medicine, Universitas PadjadjaranAbstract Background Spinal muscular atrophy (SMA) is a genetic disease that causes muscle weakness and atrophy. Delayed diagnosis can lead to loss of motoric functions, which may then progress to deformities such as thoracolumbar scoliosis, pelvic obliquity, and hip subluxation/dislocation. The lack of information or limited experience among healthcare providers and costly genetic tests can cause delayed diagnosis. The current study aimed to assess the characteristics of patients with SMA. Moreover, the association between SMA type and delayed diagnosis and the risk of spinal deformity in the Indonesian SMA Community was evaluated. Methods This was a cross-sectional study performed on 53 patients diagnosed with SMA. Data about patients’ characteristics were obtained from the Indonesian SMA Community using a questionnaire in August 2019. The information included age, sex, SMA type, age at suspicion and definite diagnosis of SMA, and presence of spinal deformities. Then, descriptive analysis and logistic regression analysis were performed, and the Kruskal–Wallis test and the Chi-square test were utilized. Results The median age of patients suspected of SMA was 24 months. A definitive diagnosis of SMA was obtained at 36 months. Further, 43% of patients presented with SMA type 2 and 58% with spinal deformities. Results showed a positive correlation between time interval between suspicion and definite diagnosis of SMA and the risk of spinal deformities (B = 0,07; p > 0.05). Delayed diagnosis was more common in SMA type 3 than in SMA types 1 and 2, and SMA type 2 was correlated with a twofold risk of spinal deformities (p = 0.03; prevalence ratio = 2.09). Conclusions SMA type 2 is associated with a twofold risk of spinal deformities. Delayed diagnosis is more common in SMA type 3 than in SMA types 1 and 2. Moreover, there was an association between the time interval between suspicion and definite diagnosis of SMA and the risk of spinal deformities in patients with SMA.https://doi.org/10.1186/s40001-023-01098-3Delayed diagnosisSpinal deformitySpinal muscular atrophy |
| spellingShingle | Dian Marta Sari Vitriana Biben Guswan Wiwaha Dany Hilmanto Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients European Journal of Medical Research Delayed diagnosis Spinal deformity Spinal muscular atrophy |
| title | Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients |
| title_full | Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients |
| title_fullStr | Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients |
| title_full_unstemmed | Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients |
| title_short | Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients |
| title_sort | association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in indonesian patients |
| topic | Delayed diagnosis Spinal deformity Spinal muscular atrophy |
| url | https://doi.org/10.1186/s40001-023-01098-3 |
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