Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041805 | Neuromuscular Disorders | 2011 | 6 Pages |
Abstract
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 16Â years or younger with genetically and/or histologically confirmed symptomatic dystrophinopathy, with an age range of 2-10Â 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 4Â 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.
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Authors
Natashia Seemann, Kathy Selby, Laura McAdam, Doug Biggar, Hanna Kolski, Sharan Goobie, Grace Yoon, Craig Campbell, on behalf of the Canadian Pediatric Neuromuscular Group on behalf of the Canadian Pediatric Neuromuscular Group,