Dr. Baccon of Akron Children's Hospital and Northeast Ohio Medical University has no relevant financial relationships to disclose.)
Dr. Sarnat of the University of Calgary has no relevant financial relationships to disclose.)
This article includes discussion of Ullrich congenital muscular dystrophy, collagen VI-related myopathy, UCMD, Ullrich disease, and Ullrich scleroatonic muscular dystrophy. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.
In this article, the author discusses Ullrich congenital muscular dystrophy, a collagen VI–related myopathy, which is characterized by proximal joint contractures, distal hyperlaxity, and normal intelligence. Clinical findings are hypotonia, congenital hip dislocation, torticollis, contractures, arthrogryposis, distal laxity in the neonatal period, and generalized, slowly progressive muscle weakness, including mild facial weakness. Ullrich congenital muscular dystrophy and Bethlem myopathy represent 2 ends of a clinical spectrum of disease defined as collagen VI–related myopathies. Both recessive and dominant mutations in collagen VI genes COL6A1, COL6A2, and COL6A3 are responsible for the disease phenotype in these myopathic conditions.
• Ullrich congenital muscular dystrophy (UCMD) is the severe clinical manifestation of collagen VI–related myopathic disorders.
• Ullrich congenital muscular dystrophy patients may have dominant or recessive mutations in collagen VI genes, and dominant mutations are frequently de novo mutations.
• Early diagnosis of this disorder is important because supportive nocturnal ventilation can help patient survival.
Historical note and terminology
In 1930, Ullrich described a peculiar form of congenital muscular dystrophy with an unusual combination of distal hyperextensibility and proximal contractures in 2 boys; he termed the disorder “congenital atonic-sclerotic muscular dystrophy” (Ullrich 1930a; Ullrich 1930b). Additional clinical findings were onset in the neonatal period or early infancy, which included generalized muscle weakness, hyperhidrosis, high-arched palate, protruded calcanei, and normal intelligence.
Ullrich congenital muscular dystrophy (MIM 254090) and Bethlem myopathy (MIM 158810) were originally described as separate entities, but demonstration of collagen VI gene mutations led to the concept of “collagen VI-related myopathies” as a group of conditions covering a broad clinical spectrum (Lampe and Bushby 2005).
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