Histochemical Abnormalities in Various Forms of Congenital Muscular Dystrophy
نویسندگان
چکیده
منابع مشابه
congenital muscular dystrophy : an overview
congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
متن کاملMerosin-negative congenital muscular dystrophy associated with extensive brain abnormalities.
Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogeneous disorders. The most frequent form in the Caucasian population is classic (occidental) CMD, characterized by exclusive muscle involvement, although abnormal brain white matter signals are occasionally observed on MRI. Recently, deficiency of merosin, the laminin isoform in skeletal muscle, has been identified in classi...
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 کاملCongenital, hypotonic-sclerotic muscular dystrophy.
Four cases of congenital, hypotonic-sclerotic muscular dystrophy are presented. The patients showed clinically prominent features described by Ullrich, i.e. congenital muscle weakness, hypotonia, and hyperextensibility of distal joints, contractures of proximal joints, high-arched palate, hyperhidrosis, posterior protrusion of calcaneus, and no progression. Muscle biopsies revealed dystrophic c...
متن کاملulrich congenital muscular dystrophy (ucmd)
ulrich congenital muscular dystrophy is an autosomal recessive disorder of collagen type vi-related disorders. this condition presents with early onset proximal joint contractures, muscle weakness and hyperelasticity of the distal joints. prominent calcanei are common. muscle weakness is so profound that children never achieve the ability to walk independently or walk for only short periods. se...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2008
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-22-3-2