Duchenne muscular dystrophy: the management of scoliosis

Archer, James E.; Gardner, Adrian; Roper, Helen; Chikermane, Ashish; Tatman, A.

doi:10.21037/jss.2016.08.05

Cited by 59 publications

(40 citation statements)

References 86 publications

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“…28,104,105 Posterior spinal instrumentation and fusion are recommended in non-ambulatory individuals who have a spinal curve in the sitting position greater than 20-30°, who have not yet reached puberty, and who have not been treated with corticosteroids because the curve is expected to progress. Although patients treated with corticosteroids can still develop scoliosis, the progression might be less predictable, so observation for clear evidence of progression is a reasonable approach before intervening.…”

Section: Orthopaedic and Surgical Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Birnkrant

Bushby

Bann

et al. 2018

The Lancet Neurology

789

886

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A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complications of Duchenne muscular dystrophy (DMD). Contemporary care has been shaped by the availability of more sensitive diagnostic techniques and the earlier use of therapeutic interventions, which have the potential to improve patients’ duration and quality of life. In part 2 of this update of the DMD care considerations, we present the latest recommendations for respiratory, cardiac, bone health and osteoporosis, and orthopaedic and surgical management for boys and men with DMD. Additionally, we provide guidance on cardiac management for female carriers of a disease-causing mutation. The new care considerations acknowledge the effects of long-term glucocorticoid use on the natural history of DMD, and the need for care guidance across the lifespan as patients live longer. The management of DMD looks set to change substantially as new genetic and molecular therapies become available.

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Section: Orthopaedic and Surgical Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Birnkrant

Bushby

Bann

et al. 2018

The Lancet Neurology

789

886

View full text Add to dashboard Cite

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“…Also, enlarged calf muscles (pseudo hypertrophy) are always noticed [4]. From the age of 7-12, the cases become more deteriorated, and the patients start to suffer from scoliosis [5], and joint contracture [6]. Also, patients will have an apparent reduction in bone-mineral density and will have hypocalciuria and osteoporosis [7].…”

Section: Methods For Dmd Diagnosis 21 Clinical Picturementioning

confidence: 99%

Duchenne Muscular Dystrophy (DMD) Diagnosis: Past and Present Perspectives

Mousa¹,

Osman²,

Fahmy³

et al. 2020

Rare Diseases

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Duchenne muscular dystrophy (DMD) is a fatal X-linked disorder, characterized by progressive skeletal muscle wasting. The disease is caused by various types of mutations in the dystrophin gene (DMD). The disease occurs at a frequency of about 1 in 5000 male births, making it the most common severe neuro-muscular disease. In addition to clinical examinations of muscle strength and function, diagnosis of DMD usually involves a combination of immunological assays using muscle biopsies, typically immunohistochemistry and western blotting, and molecular techniques such as DMD gene sequencing or Multiplex Ligation Dependent Probe Amplification (MLPA) using blood samples. In fact, precise molecular diagnosis is a prerequisite for determining the appropriate personalized therapeutic approach such as exon-skipping, gene therapy or stem cell-based therapies in conjunction with gene editing techniques like CRISPR-Cas9. However, the quest for reliable biomarkers with high sensitivity and specificity for DMD from liquid biopsy is still a hotspot of research, as such non-invasive biomarker(s) would not only facilitate disease diagnosis but would also help in carrier detection, which will eventually result in better disease management. In this chapter, we will illustrate the detailed current and prospect strategies for disease.

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“…Yürümenin kaybı, alt ekstremitede eklemlerde hareket kısıtlılıklarına, kaslarda kısalıklara yol açmakta, postür ve oturma dengesi bozmaktadır. DMD'ye bağlı kas güçsüzlüğün ilerlemesiyle de bu süreç hızlanmaktadır (12,13) . Çalışmamızda, yürüme kaybının olduğu yaş ve skolyozun görülmeye başladığı yaş ortalamalarının ben- zer olmasıyla literatürle bu konuda uyumluluk göstermektedir (13) .…”

Section: İstatistiksel Yöntemunclassified

The Relationship Between Scoliosis and Wheelchair Use In Patients With Duchenne Muscular Dystrophy

Sertpoyraz¹,

Turanoglu²

2019

BUCH

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Skolyoz ile ağrı arasında pozitif anlamlı ilişki saptandı (p=0.000). Hastaların 35 (%49) 'i yardımcı cihaz kullanıyordu. En sık kullanılan yardımcı cihaz 33 (%94) tekerlekli sandalye idi. Yardımcı cihaz kullanan 35 hastanın %71,4'ünde skolyoz vardı. Yardımcı cihaz kullanımı ile skolyoz arasında ilişki anlamlıydı (p=0.001). Tekerlekli sandalye kullanımı olan 33 hastanın %94'ünde kullanılan tekerlekli sandalye uygunsuzdu. Yalnızca %6'sı uygundu ve sağlık profesyonelleri tarafından önerilmişti. Sonuç: Skolyoza bağlı ağrı, DMD'de sık karşılaşılan bir semptomdur. Skolyoz, yardımcı cihazlardan özellikle tekerlekli sandalye kullanımı ile de ilişkilidir. Uygunsuz tekerlekli sandalye, skolyoz progresyonuna ve ağrıya katkıda bulunabilir. Bu nedenle DMD'li hastalarda skolyoza bağlı ağrının göz önünde tutulması, özellikle tekerlekli sandalye kullanımı olanlarda hastaya uygunluğunun düzenli aralıklarla ve ayrıntılı olarak değerlendirilmesi gerekir.

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Duchenne muscular dystrophy: the management of scoliosis

Cited by 59 publications

References 86 publications

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Duchenne Muscular Dystrophy (DMD) Diagnosis: Past and Present Perspectives

The Relationship Between Scoliosis and Wheelchair Use In Patients With Duchenne Muscular Dystrophy

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