Spinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival motor neuron 1 (SMN1) gene. The most recent SMA best practice recommendations were published in 2018 shortly after the approval of the first SMN-enhancing treatment. The availability of disease-modifying therapies for 5q SMA and implementation of SMA newborn screening (NBS) has led to urgency to update the SMA best practice recommendations for diagnosis and to reevaluate the current classification of SMA. In addition, the availability of disease-modifying therapies has opened the door to explore improved diagnosis of adult-onset SMA. A systematic literature review was conducted on SMA NBS. An SMA working group of American and European health care providers developed recommendations through a modified Delphi technique with serial surveys and virtual meeting feedback on SMA diagnosis to fill information gaps for topics with limited evidence. A community working group of an individual with SMA and caregivers provided insight and perspective on SMA diagnosis and support through a virtual meeting to guide recommendations. The health care provider working group achieved consensus that SMA NBS is essential to include in the updated best practice for SMA diagnosis (100%). Recommendations for the following are described: characterizing NBS-identified infants before treatment; minimum recommendations for starting or offering SMA NBS in a state or country; recommendations for activities and services to be provided by an SMA specialty care center accepting SMA NBS referrals; and recommendations for partnership with individuals with SMA and caregivers to support NBS-identified infants and their caregivers. Limited data are available to advance efficient diagnosis of adult-onset SMA. Updating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.

Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by biallelic variants of the Survival Motor Neuron 1 gene (SMN1) that affects approximately 1 in 15,000 live births. Availability of 3 SMN-enhancing treatments for SMA has led to urgency to review how clinicians and patients use these treatments for SMA, while additional research and real-world data and experience are being collected. This work describes important factors to assist with decision-making for SMN-enhancing treatments. A systematic literature review was conducted on SMN-enhancing treatments for SMA and related studies. A working group of American and European health care providers with expertise in SMA care identified barriers and developed recommendations through a modified Delphi technique with serial surveys and feedback through virtual meetings to fill gaps for information where evidence is limited. A community working group of an individual living with SMA and caregivers provided insight and perspective on SMA treatments and support through a virtual meeting to guide recommendations. The health care provider working group and the community working group agreed that when determining whether to start, change, add, or discontinue a treatment, essential considerations include patient and family/caregiver perspective, and treatment safety and side effects. When initiating treatment for patients newly diagnosed with SMA, important patient characteristics are age and Survival Motor Neuron 2 gene (SMN2) copy number. Furthermore, when initiating, changing, or adding treatment, current clinical status and comorbidities drive decision-making. When considering a medication or treatment plan change, unless there is an urgent indication, a treatment and associated patient outcomes should be monitored for a minimum of 6–12 months. When determining a treatment plan with an adolescent or adult with SMA, consider factors such as quality of life, burden vs benefit of treatment, and reproductive issues. Access to care coordination and interdisciplinary/multidisciplinary care are essential to treatment success. Sharing information about current knowledge of treatments and shared decision-making between health care providers and patients living with SMA and caregivers are essential to overcoming barriers to providing SMN-enhancing treatments.

Background: 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.

Background: Bulbar dysfunction is a well-recognized burden experienced by individuals with spinal muscular atrophy (SMA). Metrics that capture the impact of these problems are lacking. Objectives: To develop and validate an SMA-Bulbar Scale that captures and quantifies patient-reported experiences with bulbar dysfunction. Methods: Cure SMA database members were invited to complete online surveys and a 31-item Bulbar Scale developed by the authors with reference to both bulbar dysfunction in the literature and consultations with SMA-dedicated health care providers, pharmaceutical companies, and persons affected by SMA. Results: 166 adults with SMA reported a range of bulbar dysfunctions. The most common problems, occurring more than 80% of the time, were prolonged meal times, difficulty with mouth opening, and swallowing pills. In addition, 10% of the respondents reported a worsening feeding function over the course of their lives. Across the diverse array of bulbar functions, exploratory and confirmatory factor analyses of responses identified three coherent dimensions of bulbar dysfunction: Swallowing; Mealtimes and Communication; and Breath Sounds, Speech, Voice, and Secretion Management. Higher scores of overall bulbar dysfunction, (p < .001) and each factor (p < .001), were reported by respondents with any degree of feeding restrictions. Sex, age, or use of SMA disease-modifying treatment did not correlate with bulbar scores. Conclusions: This patient-reported scale of bulbar function in adults with a wide range of SMA severity captures and quantifies the variable manifestations of experienced bulbar impairment. With preliminary evidence of validity, the scale supports efforts to standardize accurate identification of bulbar dysfunction, incorporate the perspectives of people with SMA on key areas of their daily functioning, provide metrics essential for meaningful endpoints in clinical trials, inform practice guidelines, and promote advancement of the regulatory science needed for the evaluation and development of therapeutic interventions. Identification of three coherent dimensions of bulbar dysfunction may improve further investigations.

This is a retrospective radiographic review to assess post-operative sagittal plane deformities in patients with Spinal Muscular Atrophy type 2 that had been treated with posterior spinal instrumentation. Thirty-two patients with a history of either spinal fusion (N = 20) or growing rods (N = 12) were identified with an average of 7.6 (2.1–16.6) years post-operative follow-up. Forty percent (13/32) of the patients were identified as having obvious “tucked chin” (N = 4), “tipped trunk” (N = 9), or both (N = 3). Sacral incidence was the only parameter that was statistically significant change between pre-operative or immediate post-operative measurements (66.9° vs. 55.2° p = 0.03). However, at final follow-up, the post-operative thoracic kyphosis had decreased over time in those that developed a subsequent sagittal deformity (24.2°) whereas it increased in those that did not (44.7°, p = 0.008). This decrease in thoracic kyphosis throughout the instrumented levels, resulted in a greater lordotic imbalance (30.4° vs. 5.6°, p = 0.001) throughout the instrumented levels in the group that developed the subsequent cervical or pelvic sagittal deformities. In conclusion, sagittal plane deformities commonly develop outside the instrumented levels in children with SMA type 2 following posterior spinal instrumentation and may be the result of lordotic imbalance that occurs through continued anterior growth following posterior instrumentation.