Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
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چکیده
منابع مشابه
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint h...
متن کاملullrich congenital muscular dystrophy
objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...
متن کاملModerately progressive Ullrich congenital muscular dystrophy.
OBJECTIVES To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive investigation, which included collagen VI immunohistochemical and genomic analyses. DESCRIPTION This study was based on clinical, immunohistochemical assessment of muscle tissue and genomic analysis of dermal fibrobla...
متن کاملPerioperative care of a child with Ullrich congenital muscular dystrophy.
Ullrich congential muscular dystrophy (UCMD) is a severe form of congenital muscular dystrophy manifesting axial muscle contractures and distal joint hyperlaxity. Severe hypotonia and associated respiratory failure may occur early in the disease process. Given the various associated orthopedic conditions, anesthetic management may be required during surgical interventions to correct skeletal de...
متن کاملUllrich congenital muscular dystrophy: report of nine cases from India.
BACKGROUND Ullrich congenital muscular dystrophy (UCMD) is a unique congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. MATERIALS AND METHODS We prospectively evaluated nine cases of classical UCMD and recorded the clinical phenotypic characteristics...
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ژورنال
عنوان ژورنال: Annals of Rehabilitation Medicine
سال: 2014
ISSN: 2234-0645,2234-0653
DOI: 10.5535/arm.2014.38.2.292