Ocular findings in muscular dystrophies
نویسندگان
چکیده
Muscular dystrophies are a heterogeneous class of inherited disorders presenting with different clinical, genetic, and biochemical features. Muscular dystrophies include Duchennemuscular dystrophy (DMD) and Becker muscular dystrophy (BMD) myotonic dystrophy (DM), oculopharyngeal muscular dystrophy (OPMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), distal muscular dystrophy, and congenital muscular dystrophy (CMD)types, each with a wide spectrum of clinical manifestations. Those muscular dystrophies can have similar symptoms or unique and specific presentations. This abstract will review the prevalence, clinical presentation, and management of ocular findings in certain muscular dystrophies.
منابع مشابه
Dystroglycan induced muscular dystrophies - a review.
Dystroglycanopathies are muscular dystrophies caused by mutations in genes involved the in O-linked glycosylation of α-dystroglycan. Severe forms of these conditions result in abnormalities in exhibit brain and ocular developmental too, in addition to muscular dystrophy. The full spectrum of developmental pathology is caused mainly by loss of dystroglycan from Bergmann glia. Moreover, cognitive...
متن کاملLimb-girdle muscular dystrophies.
PURPOSE OF REVIEW The aim of this review is to provide an up-to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs). RECENT FINDINGS Over the last few years, new and interesting studies have been published on LGMD. New LGMD genes have been discovered and the clinical and genetic heterogeneity in this group of muscular dystrophies has been further enlarged by the ...
متن کاملCompound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consa...
متن کاملDiagnosis of limb-girdle muscular dystrophies in the molecular biology era: do clinical findings still matter?
editorial Diagnosis of limb-girdle muscular dystrophies in the molecular biology era: do clinical findings still matter? Diagnóstico das distrofias musculares de cinturas na era da biologia molecular: os dados clínicos ainda tem importância? L imb-girdle muscular dystrophies have always been a challenge to diagnose because of the similarity of their clinical presentations. Until 1981, different...
متن کاملFurther evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.
The dystroglycanopathies comprise a clinically and genetically heterogeneous group of muscular dystrophies characterized by deficient glycosylation of alpha-dystroglycan. Mutations in the fukutin (FKTN) gene have primarily been identified among patients with classic Fukuyama congenital muscular dystrophy (FCMD), a severe form of dystroglycanopathy characterized by CMD, cobblestone lissencephaly...
متن کامل