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Sporer, Scott M.; Smith, Brian G.

doi:10.1097/00004694-200301000-00002

Cited by 20 publications

(5 citation statements)

References 14 publications

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“…Hip subluxations are frequent in patients with SMA, mostly in nonambulatory patients 19–22. Treatment for patients with SMA type I is usually not requested because of poor general condition;19,20 thus, the highest incidence for orthopedic-relevant hip subluxations and dislocations can be found in SMA type II and type III patients.…”

Section: Hip Joint Involvementmentioning

confidence: 99%

“…Treatment for patients with SMA type I is usually not requested because of poor general condition;19,20 thus, the highest incidence for orthopedic-relevant hip subluxations and dislocations can be found in SMA type II and type III patients. Subluxation occurs in approximately 30%–40% of SMA type II patients and 10%–30% of SMA type III patients.…”

Section: Hip Joint Involvementmentioning

confidence: 99%

“…Subluxation occurs in approximately 30%–40% of SMA type II patients and 10%–30% of SMA type III patients. Dislocation occurs in approximately 30% of SMA type II patients and 20%–30% in SMA type III patients 19–22. The weakness of hip-stabilizing muscles, the lack of physiological weight-bearing and missing axialization are the reasons for recurrent hip dysplasia, subluxation, and dislocation 19.…”

Section: Hip Joint Involvementmentioning

confidence: 99%

“…Nonetheless, clinical problems of hip dislocations and subluxations have been only rarely reported. Some sporadic cases of hip pain have been described in patients without positioning problems or limitations in daily life activities despite recurrent hip dislocation 19–22. In contrast, operatively corrected hip joints, including hips corrected with surgical reduction and osteotomy, have a higher incidence for redislocations and only a marginally better outcome after operation 20.…”

Section: Hip Joint Involvementmentioning

confidence: 99%

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Proximal spinal muscular atrophy: current orthopedic perspective

Haaker¹,

Fujak²

2013

TACG

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Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is caused by a defective “survival motor neuron” (SMN) protein that is mainly associated with proximal progressive muscle weakness and atrophy. Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. Active research for possible treatment options has become possible since the disease-causing gene defect was identified in 1995. Nevertheless, a causal therapy is not available at present, and therapeutic management of SMA remains challenging; the prolonged survival is increasing, especially orthopedic, respiratory and nutritive problems. This review focuses on orthopedic management of the disease, with discussion of key aspects that include scoliosis, muscular contractures, hip joint disorders, fractures, technical devices, and a comparative approach of conservative and surgical treatment. Also emphasized are associated complications including respiratory involvement, perioperative care and anesthesia, nutrition problems, and rehabilitation. The SMA disease course can be greatly improved with adequate therapy with established orthopedic procedures in a multidisciplinary therapeutic approach.

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Section: Hip Joint Involvementmentioning

confidence: 99%

Section: Hip Joint Involvementmentioning

confidence: 99%

Section: Hip Joint Involvementmentioning

confidence: 99%

Section: Hip Joint Involvementmentioning

confidence: 99%

See 2 more Smart Citations

Proximal spinal muscular atrophy: current orthopedic perspective

Haaker¹,

Fujak²

2013

TACG

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“…One of the symptoms typical of SMA patients is scoliosis which is accompanied by improper head position, chest deformity and oblique position of pelvis [3, 8, 9, 12]. Difficulties in treating scoliosis are also caused by hip joint dislocations [12, 24] and increasing contractures [7, 10, 23].…”

Section: Introductionmentioning

confidence: 99%

Reliability of four tests to assess body posture and the range of selected movements in individuals with spinal muscular atrophy

Stępień

Jędrzejowska

Guzek

et al. 2019

BMC Musculoskelet Disord

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BackgroundThe majority of individuals with spinal muscular atrophy (SMA) experience progressive skeletal deformities which may affect the quality of life and mobility. To date, no studies have evaluated the reliability of tests assessing body posture and joint mobility in SMA patients. The purpose of this study was to assess the reliability of Cervical Rotation test (CR), Supine Angle of Trunk Rotation test (SATR), Hip Extension test (HE) and Pelvic Obliquity test (PO) developed to evaluate the musculoskeletal system in SMA individuals.MethodsThirty individuals (12 girls and 18 boys) aged 4–15 with SMA type II (n = 24) and III (n = 6) confirmed by genetic examinations were qualified for the study. The participants were examined twice by three physiotherapists on the same day. The examination included four tests, i.e. CR, SATR, HE and PO tests aimed at assessing ranges of rotation in the cervical spine, chest deformities, ranges of hip extension and pelvis position while sitting. Statistical calculations were made with the use of statistical software IBM SPSS Statistics version 20. Reliability was assessed using the Intraclass Correlation Coefficient (ICC).ResultsIntraobserver reliability was excellent for CR (ICC range 0.839–0.911), SATR (ICC range 0.918–0.939 - the upper part of the sternum; ICC range 0.951–0.975 - the lower part of the sternum), HE (ICC range 0.988–0,991) and PO (ICC range 0.896–0.935) tests.The interobserver ICC reached the excellent values in CR (ICC range 0.912–0.920), SATR (ICC = 0.888 - the upper part of the sternum, ICC = 0.951 - the lower part of the sternum), HE (ICC range 0.922–0.923) and PO (ICC = 0.928) tests.ConclusionsCR, SATR, HE and PO tests are reliable and may be used for examining individuals with SMA. The application of these tests provides a possibility to detect early changes in the musculoskeletal system in children and adolescents and to assess the effectiveness of the implemented pharmacotherapy and rehabilitation.

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Management of Spinal Muscular Atrophy in the Adult Population

2022

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Spinal muscular atrophy (SMA) is a group of neurodegenerative disorders resulting from the loss of spinal motor neurons. 95% of patients share a pathogenic mechanism of loss of survival motor neuron (SMN) 1 protein expression due to homozygous deletions or other mutations of the SMN1 gene, with the different phenotypes influenced by variable copy numbers of the SMN2 gene. Advances in supportive care, disease modifying treatment and novel gene therapies have led to an increase in the prevalence of SMA, with a third of SMA patients now represented by adults.Despite the growing number of adult patients, consensus on the management of SMA has focused primarily on the pediatric population. As the disease burden is vastly different in adult SMA, an approach to treatment must be tailored to their unique needs. This review will focus on the management of the adult SMA patient as they age and will discuss proper transition of care from a pediatric to adult center, including the need for continued monitoring for osteoporosis, scoliosis, malnutrition, and declining mobility and functioning. As in the pediatric population, multidisciplinary care remains the best approach to the management of adult SMA.Novel and emerging therapies such as nusinersen and risdiplam provide hope for these patients, though these medications are of uncertain efficacy in this population and require additional study.

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Untitled

Cited by 20 publications

References 14 publications

Proximal spinal muscular atrophy: current orthopedic perspective

Proximal spinal muscular atrophy: current orthopedic perspective

Reliability of four tests to assess body posture and the range of selected movements in individuals with spinal muscular atrophy

Management of Spinal Muscular Atrophy in the Adult Population

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