Clinical and pathological features in 3 Chinese patients with Ullrich congenital muscular dystrophy / 中华神经科杂志

ABSTRACT

Objective To investigate the clinical and pathological features of Uurich congenital muscular dystrophy (UCMD). Methods The clinical aspects of 3 patients with UCMD, 2 with Duchenne muscular dystrophy (DMD) and 1 with congenital muscular dystrophy 1A (MDC1A) were analyzed. And the muscle specimens from these patients were studied using immunohistochemistry and immunofluorescence staining. Results UCMD was clinically characterized by neonatal hypotonia with proximal contracturos and distal hyperlaxity at birth or early infancy. Histochemical staining revealed muscle frber hypoplasia andinterstitium proliferation. Immunohistochemistry staining with anti-collagen Ⅵ antibody revealed complete(1/3) or partial (2/3) deficiency of collagen Ⅵ in the sarcolemma and interstitial matrix. Partial deficiency was better demonstrated by immunofluorescence staining. Conclusions The proximal contractures and distal hyperlaxity is the clinical hallmark of UCMD. Collagen Ⅵ immunolabelling can confirm the diagnosis of UCMD.