Limb-girdle Muscular Dystrophy
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Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report
Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were sugges...
متن کاملElectron microscopic findings of cardiomyopathy with limb girdle muscular dystrophy.
Cardiac involvement in limb girdle muscular dystrophy has considered to be rare. This is the first report showing the electron microscopic findings of dilated cardiomyopathy (DCM) accompanied with limb girdle muscular dystrophy. The findings described in this report indicate that limb girdle muscular dystrophy may be yet another cause of DCM.
متن کاملGenetic basis of limb-girdle muscular dystrophies: the 2014 update
Limb-girdle muscular dystrophies (LGMD) are a highly heterogeneous group of muscle disorders, which first affect the voluntary muscles of the hip and shoulder areas. The definition is highly descriptive and less ambiguous by exclusion: non-Xlinked, non-FSH, non-myotonic, non-distal, nonsyndromic, and non-congenital. At present, the genetic classification is becoming too complex, since the acron...
متن کاملAnaesthetic Management of a Child with Limb-Girdle Muscular Dystrophy.
Limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. These disorders may lead to an increase in life-threatening complications related to surgery and anaesthesia. In this case, the anaesthetic management of a child with limb-girdle muscular dystrophy is presented.
متن کاملA novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized b...
متن کاملAutosomal dominant muscular dystrophy, dystrophin. INTRODUCTION The limb girdle syndromes are a heterogeneous group of disorders characterized by muscle weakness, which predominantly affects proximal limb and girdle muscle. An autosomal dominant limb girdle muscular dystrophy
-We present two cases of autosomal dominant limb girdle muscular dystrophy in a father and son. Both presented in childhood with a classical Becker muscular dystrophy phenotype. The father had initially been informed that he would not have affected children. After the diagnosis of muscular dystrophy in the son, immunoblot analysis was performed on muscle and revealed normal dystrophin. The poly...
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