Proximal spinal muscular atrophy: current orthopedic perspective

Haaker, Gerrit; Fujak, Albert

doi:10.2147/tacg.s53615

Cited by 30 publications

(17 citation statements)

References 61 publications

(129 reference statements)

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“…Scoliosis occurs in almost all non-ambulant individuals with SMA [56]. When untreated, scoliosis causes chest-cage deformities with subsequent respiratory restriction.…”

Section: Clinical Managementmentioning

confidence: 99%

Spinal Muscular Atrophy

2015

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Incidence The incidence of SMA is 1:11,000 live births [1]. Prevalence The prevalence of the carrier state is approximately 1 in 54 [1]. Severity The clinical severity of SMA correlates inversely with SMN2 gene copy number and varies from an extreme weakness and paraplegia of infancy to a mild proximal weakness of adulthood. Natural History The natural history of SMA is complex and variable. For this reason, clinical subgroups have been defined based upon best motor function attainment during development. Type 1 SMA infants never sit independently. Type 2 SMA children sit at some point during their childhood, but never walk independently. And Type 3 SMA children and adults are able to walk independently at some point in their childhood.

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“…Scoliosis occurs in almost all non-ambulant individuals with SMA [56]. When untreated, scoliosis causes chest-cage deformities with subsequent respiratory restriction.…”

Section: Clinical Managementmentioning

confidence: 99%

Spinal Muscular Atrophy

2015

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“…Spinal muscular atrophy (SMA) is a rare and debilitating genetic neuromuscular disease caused by a loss of function mutation or deletion of the survival motor neuron gene 1 (SMN1) [ 1 – 3 ]. It affects one in approximately 15,000 live births [ 4 , 5 ]. SMA is characterized by progressive loss of motor neurons, muscle weakness, and atrophy [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Treatment preference among patients with spinal muscular atrophy (SMA): a discrete choice experiment

Monnette

Er²,

Hong

et al. 2021

Orphanet J Rare Dis

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Objective To examine patient/caregiver preference for key attributes of treatments for spinal muscular atrophy (SMA). Background In the rapidly evolving SMA treatment landscape, it is critically important to understand how attributes of potential treatments may impact patient/caregiver choices. Design/methods A discrete choice experiment survey was developed based on qualitative interviews. Patients with SMA (≥ 18 years) and caregivers of patients were recruited through a U.S. patient organization. Respondents made choices in each of 12 sets of hypothetical treatments. The relative importance of five treatment characteristics was compared (measured by regression coefficients [RC] of conditional logit models): (1) improvement or stabilization of motor function, (2) improvement or stabilization of breathing function, (3) indication for all ages or pediatric patients only, (4) route of administration [repeated intrathecal (IT) injections, one-time intravenous (IV) infusion, daily oral delivery] and (5) potential harm (mild, moderate, serious/life threatening). Results Patient ages ranged from less than 1 to 67 years (n = 101, 65 self-reported and 36 caregiver-reported) and 64 were female. Total SMA subtypes included: type 1 (n = 21), type 2 (n = 48), type 3 (n = 29), other (n = 3). Prior spinal surgery was reported in 47 patients. Nusinersen and onasemnogene abeparvovec-xioi use were reported in 59 and 10 patients, respectively. Improvement in motor and breathing function was highly valued [RC: 0.65, 95% confidence interval (CI): 0.47–0.83 and RC: 0.79, 95% CI: 0.60–0.98, respectively]. Oral medication and one-time infusion were strongly preferred over repeated IT injections (RC: 0.80, 95% CI: 0.60–0.98 and RC: 0.51, 95% CI: 0.30–0.73, respectively). Patients least preferred an age-restricted label/approved use (≤ 2 years of age) (RC: − 1.28, 95% CI: − 1.47 to − 1.09). Cross-attributes trade-off decision suggested a lower willingness for a high-risk therapy despite additional efficacy gain. For some patients, there may be willingness to trade off additional gains in efficacy for a change in route of administration from repeated intrathecal administration to oral medication. Conclusions Improvements in motor/breathing function, broad indication, oral or one-time infusion, and minimal risk were preferred treatment attributes. Treatment decisions should be made in clinical context and be tailored to patient needs.

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“…SMA1 management requires close monitoring and proactive supportive care as a result of progressive pulmonary failure and swallowing dysfunction, leading to chronic aspiration and failure to thrive [ 4 ]. In recent years, the clinical management of SMA1 patients has evolved with advances in multidisciplinary supportive care such that the basic care needs of the patient are emphasized [ 5 ]; advances include early, proactive pulmonary care (e.g., airway clearance and noninvasive ventilatory support [ 5 ]), scoliosis surgical strategies [ 6 ], and nutritional support optimization [ 4 ]. As a result, a greater proportion of SMA1 children are receiving supportive care [ 3 , 7 ].…”

Section: Introductionmentioning

confidence: 99%