Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy
نویسندگان
چکیده
منابع مشابه
Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization.
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the dystrophin gene and is characterized by muscle degeneration and death. DMD affects males; females being asymptomatic carriers of mutations. However, some of them manifest symptoms due to a translocation between X chromosome and an autosome or to a heterozygous mutation leading to inactivation of most o...
متن کاملSymptomatic therapy of Duchenne Muscular Dystrophy (DMD)
DMD certainly has a remarkable position amongst all hereditary muscle disorders. Noteworthy is its relatively high incidence as a " rare disease " , its X-chromosomal mode of inheritance, the high frequency of new mutations , as well as its relatively rapid and fatal course. For a century the disorder was considered to be untreatable. Only 40 years ago the patients' " natural " age at death was...
متن کاملP164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
متن کاملThe female carrier of Duchenne muscular dystrophy.
Duchenne muscular dystrophy is an X-linked recessive disorder, affecting only males and transmitted by females, who have a 50%1 risk of an affected son or a carrier daughter. The incidence has been estimated at between one in 3000 and one in 5000 male births,' but not all the mothers of affected infants are carriers; a substantial proportion of cases will represent new mutations. According to H...
متن کاملDuchenne muscular dystrophy An overview of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) affects approximately 1 in 3,500 live male births [1]. It is caused by a large variety of mutations in the dystrophin gene. Because of these mutations, the body can no longer make dystrophin which is a protein important for stabilisation of the muscle cell during a contraction. Without dystrophin, muscle cells are damaged and slowly replaced by fat and scar tis...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2020
ISSN: 1678-4227,0004-282X
DOI: 10.1590/0004-282x20190168