Orthopaedic Manifestations of Congenital Myotonic Dystrophy During Childhood and Adolescence
Orthopaedic Manifestations of Congenital Myotonic Dystrophy During Childhood and Adolescence
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DOI：
10.1097/bpo.0b013e3181982bf6
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发表时间：
2009-03-01
影响因子：
1.7
通讯作者：
Sussman, Michael D.
中科院分区：
文献类型：
--
作者：
Canavese, Federico;Sussman, Michael D.
背景：先天性肌强直性营养不良（CMD）是一种主要的遗传性疾病，在儿童时期表现为肌肉无力，在出生时可能很严重，但在最初几年逐渐改善。先天性肌强直性营养不良代表了肌强直性营养不良谱系的严重端，在较轻的情况下，可能要到成年后才能诊断出来。本研究的目的是确定和量化可能显著影响CMD儿童功能的肌肉骨骼畸形。方法：在机构审查委员会批准后，对1987年至2004年在一家儿童骨科专科医院治疗的所有肌强直性营养不良病例进行回顾性图表和x线检查。纳入标准是通过基因检测、肌电图和/或儿童或父母的肌肉活检对CMD进行结结性检测，并存在典型的临床症状。骨骼表现按身体部位（上肢、手、脊柱、髋关节、下肢、足）和畸形类型分类。手术过程和结果也被记录下来。结果：30名儿童和青少年符合纳入标准。男女比例为1（男15名，女15名）。27例由母亲传播，2例由父亲传播；在一个案例中，不可能重建被收养儿童的家族史。平均开始步态年龄为29个月。30名儿童中有22名（73%）接受了下肢、足部或脊柱相关畸形的手术。平均随访11.4年（3-20年）。上肢未见挛缩或畸形。9例（30%）患者脊柱畸形，其中3例需要手术。这些脊柱畸形通常早发，包括胸腰椎侧凸和后凸侧凸。髋关节和膝关节水平的问题并不常见，只有2例患者有单侧髋关节外展挛缩，1例患者有明显的固定膝关节屈曲挛缩。5例（17%）发生先天性内翻足，内侧后释放后一般反应良好，仅1例复发。发育性马和马内翻不包括内翻足影响7例患者（23%），其中70%需要手术。跟腱延长后的结果是积极的，许多儿童在跟腱延长后不久就开始行走，并且没有复发。结论：CMD患儿发生脊柱及下肢肌肉骨骼畸形的风险较高。根据我们的经验，手术后矫正和改善功能是可能的。证据水平：回顾性研究；第四级别
Backgrounds: Congenital myotonic dystrophy (CMD) is a dominantly inherited disorder manifested in childhood by muscle weakness which can be profound at birth, but which progressively improves over the first few years. Congenital myotonic dystrophy represents the severe end of the spectrum of myotonic dystrophy, which in milder cases may not be diagnosed until adulthood. The goal of the study was to identify and quantitate the musculoskeletal deformities which may significantly affect the function of children with CMD.Methods: A retrospective chart and radiograph review was performed after Institutional Review Board approval for all cases of myotonic dystrophy from 1987 to 2004 followed at a children's specialty orthopaedic hospital. Inclusion criteria were either a conclusive testing for CMD by gene testing, electromyography, and/or muscle biopsy in the child or parent and the presence of a typical clinical picture. Skeletal manifestations were classified by body segment (upper extremity, hand, spine, hip, lower extremity, foot) and by the type of deformity. Surgical procedures and outcomes were also documented.Results: Thirty children and adolescents met the inclusion criteria. The male/female ratio was 1 (15 boys and 15 girls). In 27 cases, the mother transmitted the disease, and in 2 cases, the father transmitted the disease; in one case, it was impossible to reconstitute the family history of the child who was adopted. The mean age at onset of gait was 29 months. Twenty-two (73%) out of 30 children underwent surgery for lower extremity-, foot-, or spinal-related deformities. The mean follow-up was 11.4 years (range, 3-20 years).No contractures or deformities were observed in the upper extremities. Spinal deformities affected 9 patients (30%), and 3 of these required surgery. These spinal deformities when present usually had an early onset and included thoracolumbar scoliosis as well as kyphoscoliosis. Problems at the level of the hips and knee were infrequent and included only 2 patients who had unilateral hip abduction contracture and 1 patient who had significant fixed knee flexion contracture. Congenital clubfoot occurred in 5 patients (17%) and generally responded well after posteromedial release and recurrence occurred in only one case. Developmental equinus and equinovarus exclusive of clubfoot affected 7 patients (23%), 70% of whom required Surgery. Outcome after Achilles tendon lengthening was positive, and many of the children began walking soon after the Achilles lengthening, and recurrence did not occur.Conclusions: Child with CMD are at high risk for musculoskeletal deformities of the spine and lower extremities. In our experience, correction and improved function were likely after surgery.Level of Evidence: Retrospective study; level IV