Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients

Dian Marta Sari; Vitriana Biben; Guswan Wiwaha; Dany Hilmanto

doi:10.1186/s40001-023-01098-3

Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients

Eur J Med Res. 2023 Mar 20;28(1):130. doi: 10.1186/s40001-023-01098-3.

Authors

Dian Marta Sari^{1

2}, Vitriana Biben³, Guswan Wiwaha⁴, Dany Hilmanto⁵

Affiliations

¹ Doctoral Study Program, Faculty of Medicine, Universitas Padjadjaran, Bandung, West Java, Indonesia.
² Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Universitas Padjadjaran, Eykman 38, Bandung, 40161, West Java, Indonesia.
³ Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Universitas Padjadjaran, Eykman 38, Bandung, 40161, West Java, Indonesia. vitriana@unpad.ac.id.
⁴ Department of Public Health, Faculty of Medicine, Universitas Padjadjaran, Bandung, West Java, Indonesia.
⁵ Department of Child Health, Faculty of Medicine, Universitas Padjadjaran, Bandung, West Java, Indonesia.

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.

Keywords: Delayed diagnosis; Spinal deformity; Spinal muscular atrophy.

MeSH terms

Child, Preschool
Cross-Sectional Studies
Delayed Diagnosis
Humans
Indonesia / epidemiology
Muscular Atrophy, Spinal* / complications
Muscular Atrophy, Spinal* / diagnosis
Muscular Atrophy, Spinal* / epidemiology
Spinal Muscular Atrophies of Childhood* / diagnosis
Spinal Muscular Atrophies of Childhood* / genetics