Official websites use. Share sensitive information only on official, secure websites. Corresponding Author: Ching H. Reprints and permission: sagepub. Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice.
To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November This consensus statement describes the care recommendations from this committee. Congenital muscular dystrophies are a group of genetic neuromuscular disorders with muscle weakness presenting at birth or early infancy.
The muscle pathology reveals dystrophic or myopathic features. Table 1 lists the names, gene defects, protein products, and clinical features of the common congenital muscular dystrophy types. Advances in molecular genetics and histopathological techniques have enabled the recognition of distinct congenital muscular dystrophy subtypes supported by specific gene identification.
Recent breakthroughs in underlying molecular mechanisms drive our understanding of the disease pathogenesis and highlight therapeutic targets. However, despite the rapid progress in basic research, clinical care for patients with congenital muscular dystrophy remains extremely diverse. This can be attributed to 2 main reasons: 1 congenital muscular dystrophies are a group of rare disorders, and 2 the clinical phenotypes are overlapping and can be difficult to distinguish.
Clinicians who care for patients with neuromuscular disorders have variable expertise in recognizing and differentiating clinical phenotypes of congenital muscular dystrophy. Also, recent advances in genetic and medical technology have not been widely distributed and accepted in clinical practice. Therefore, there is a great need to establish guidelines for diagnosis and clinical care in congenital muscular dystrophy. In April , a group of physicians met to discuss current clinical care issues for patients with congenital muscular dystrophy and to prioritize the congenital muscular dystrophy care guideline initiative.
