Abstract:

OBJECTIVE: To characterise the natural history of Ullrich congenital muscular dystrophy (UCMD).
PATIENTS AND METHODS: Questionnaire-based nationwide survey to all 5442 certified paediatric and adult neurologists in Japan was conducted from October 2010 to February 2011. We enrolled the 33 patients (age at assessment, 11 ± 6.6 years) who were reported to have collagen VI deficiency on immunohistochemistry in muscle biopsies. We analysed the development, clinical manifestations, Cobb angle and %vital capacity (%VC) in spirogram.
RESULTS: Cobb angle over 30° was noted at age 9.9 ± 5.3 years (n=17). The maximum progression rate was 16.2 ± 10°/year (n=13). %VC was decreased exponentially with age, resulting in severe respiratory dysfunction before pubescence. Scoliosis surgery was performed in 3 patients at ages 5 years, 9 years and 10 years. Postoperative %VC was relatively well maintained in the youngest patient. Non-invasive ventilation was initiated at age 11.2 ± 3.6 years (n=13). Twenty-five (81%) of 31 patients walked independently by age 1.7 ± 0.5 years but lost this ability by age 8.8 ± 2.9 years (n=11). Six patients never walked independently.
CONCLUSIONS: The natural history of scoliosis, respiratory function and walking ability in UCMD patients were characterised. Although the age of onset varied, scoliosis, as well as restrictive respiratory dysfunction, progressed rapidly within years, once they appeared.

日本語要旨:

ウルリッヒ型先天性筋ジストロフィーは非常に稀少な疾病で、自然歴はよくわかっていなかった。我々は、全国規模で本症患者の全国調査を行い、33名の臨床情報を解析し、歩行能力、呼吸機能、側弯症の自然歴を明らかにしました。今回明らかにした自然歴は、患者の診療に役立つだけでなく臨床試験の基礎的資料としても役立つものである。