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Hip Pain in Nonambulatory Children with Type-I or II Spinal Muscular Atrophy
Rewais B Hanna1, Nick Nahm2, Melissa A Bent1,3
1Department of Orthopedics and Rehabilitation, University of Wisconsin-Madison, Madison, Wisconsin.
Insights
Hip pain is common in children with spinal muscular atrophy (SMA), especially type II. Radiographs may not fully capture pain, suggesting symptom-based care is crucial for managing this condition.
Area of Science:
- Pediatric Neurology
- Orthopedics
- Genetics
Background:
- Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder affecting motor neurons.
- Nonambulatory children with SMA often experience significant health complications.
- Hip pain is a reported issue, but its prevalence and characteristics in this population require further definition.
Purpose of the Study:
- To determine the prevalence of hip pain in nonambulatory children with SMA (type I or II).
- To characterize hip pain and associated interventions prior to the widespread use of disease-modifying therapies (DMTs).
- To establish a baseline for evaluating DMTs' impact on hip pathology in SMA.
Main Methods:
- Retrospective chart review of nonambulatory children diagnosed with SMA (types I or II) between 1993 and 2017.
- Analysis of subjective reports of hip pain and interventions received.
- Radiographic evaluation of hip instability and spinal deformity.
Main Results:
- Hip pain was reported by 49% of type II SMA patients versus 12% of type I (p = 0.001).
- Pain prevalence correlated with SMN2 gene copy number (2 copies: 17%, 3 copies: 53%).
- Most patients had abnormal hip radiographs, but few required invasive intervention; interventions provided limited pain relief.
Conclusions:
- Hip pain is a frequent symptom in nonambulatory children with SMA, particularly type II.
- Symptom reporting should guide clinical management over radiographic findings alone.
- This data is vital for assessing the long-term effects of DMTs on hip health in SMA.
Abstract:
The purpose of the present study was to define the prevalence of hip pain in nonambulatory children with spinal muscular atrophy (SMA) (type I or II) treated with aggressive medical management, prior to widespread use of disease-modifying therapies (DMTs).
Methods:
A retrospective chart review (1993 to 2017) was performed on children diagnosed with SMA to identify subjective reports of hip pain and associated interventions, while radiographs were evaluated to assess hip instability and spinal deformity.
Results:
Seventy-two patients (33 with type I and 39 with type II) met the inclusion criteria. Hip pain was more frequent in type-II SMA (49% versus 12%; p = 0.001). Seventeen percent of the patients with 2 copies of the SMN2 (survival motor neuron 2) gene, 53% of patients with 3 copies, and 1 of the 2 patients with 4 copies reported hip pain. Nearly all patients had abnormal findings on hip radiographs made at the onset of pain or at the latest follow-up; however, no patient with type-I and 18% of those with type-II SMA had pain that was severe enough to undergo invasive intervention (p = 0.01). The intervention reduced the pain in most of those patients but completely eliminated it in only 1 patient. No significant differences were found with respect to the mean age at the onset of scoliosis, the mean age at the time of scoliosis surgery, or whether insertion of growing rods or posterior spine fusion was performed between those with and without hip pain requiring invasive treatment.
Conclusions:
This study is, to our knowledge, the largest investigation to date to assess hip pain among nonambulatory children with type-I or type-II SMA and suggests that symptoms rather than radiographs be utilized to direct care. These data will be crucial in assessing any effects that the new DMTs have on the natural history of hip pathology and pain in nonambulatory patients with SMA.
Level Of Evidence:
Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.
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