ullrich congenital muscular dystrophy
نویسندگان
چکیده
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 forms in the clinic resembling the ehler-danlos syndrome. there has been some radical efforts for cure especially through the apoptosis cascades.
منابع مشابه
Moderately 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 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...
متن کاملTendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy
Collagen VI (COLVI) is a non-fibrillar collagen expressed in skeletal muscle and most connective tissues. Mutations in COLVI genes cause two major clinical forms, Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). In addition to congenital muscle weakness, patients affected by COLVI myopathies show axial and proximal joint contractures and distal joint hypermobility, which sugge...
متن کاملTeaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy.
A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T.C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis. Collagen type VI–related disorders represent a spectrum of overlapping phenotypes: Bethlem myopathy at the milder end, and Ullrich cong...
متن کاملCyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results
Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5-9, received 3-5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs. The megalimbs score showed significant improvement (P = 0.01) in 5 of the 6 patients. Motor func...
متن کاملUllrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations
OBJECTIVE Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance. MATERIALS & METHODS Four unrelated Iranian families with six affected...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۵، شماره ۳، صفحات ۱-۱۳
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