Department of Pediatrics, Schulich School of Medicine, University of Western Ontario, Canada.
Neuromuscul Disord. 2011 Mar;21(3):172-7. doi: 10.1016/j.nmd.2010.11.001. Epub 2010 Dec 24.
Although manifesting female carriers of dystrophinopathies have been documented in adults, there are few reports of females presenting with symptomatic dystrophinopathies during childhood. The Canadian Pediatric Neuromuscular Group identified and characterized nine cases of female children 16 years or younger with genetically and/or histologically confirmed symptomatic dystrophinopathy, with an age range of 2-10 years at presentation. Presenting symptoms included proximal muscle weakness (6/9), calf pseudohypertrophy (5/9), abnormal gait (5/9) and myalgias (5/9). Five patients were noted to have significant behavioural and learning issues. The patients had a delay in diagnosis of 4 years from symptom onset. Skewed X inactivation was noted in 5/9 patients, while one patient had X inactivation levels in the normal range. Two of the patients were found to have X/autosome translocation, one of whom also had skewed X-inactivation. Increased awareness of manifesting females with dystrophinopathies will allow for earlier diagnosis and appropriate management for this rare group of patients.
虽然已经有文献报道成年女性为肌营养不良症的显性携带者，但在儿童时期出现症状性肌营养不良症的女性病例却很少见。加拿大儿科神经肌肉组鉴定并描述了 9 例年龄在 16 岁或以下、经基因和/或组织学证实存在症状性肌营养不良症的女性儿童病例，其发病年龄为 2-10 岁。主要表现为近端肌无力（6/9）、腓肠假性肥大（5/9）、步态异常（5/9）和肌肉疼痛（5/9）。5 例患者有明显的行为和学习问题。这些患者从出现症状到确诊的平均时间延迟了 4 年。9 例患者中，5 例存在 X 染色体失活偏斜，1 例 X 染色体失活水平正常。2 例患者被发现存在 X 染色体/常染色体易位，其中 1 例也存在 X 染色体失活偏斜。提高对显性肌营养不良症女性的认识，将有助于对这一罕见患者群体进行更早的诊断和适当的管理。
