Variables associated with upper extremity function in patients with Duchenne muscular dystrophy
نویسندگان
چکیده
منابع مشابه
P164: 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 کاملUpper limb function in adults with Duchenne muscular dystrophy.
OBJECTIVE To determine upper limb function and associated factors in adults with Duchenne muscular dystrophy. DESIGN Cross-sectional study. SUBJECTS A sample of 70 men with Duchenne muscular dystrophy (age range 20-43 years). METHODS General motor function and, in particular, upper limb distal motor function, were assessed with the Motor Function Measure. Muscle strength and range of moti...
متن کاملDetection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA
Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...
متن کاملScoliosis in patients with Duchenne muscular dystrophy.
espite recent research developments, Duchenne muscular dystrophy remains a fatal neuromuscular disease, affecting two to three boys in 10,000. It is an inherited X-linked recessive condition caused by a frameshift mutation in the dystrophin gene at the Xp21.2 locus of the X chromosome. Dystrophin is a large cell-membrane protein involved in calcium transport in the muscle cell. Boys with Duchen...
متن کاملBrain function in Duchenne muscular dystrophy.
Duchenne muscular dystrophy (DMD) is the second most commonly occurring genetically inherited disease in humans. It is an X-linked condition that affects approximately one in 3300 live male births. It is caused by the absence or disruption of the protein dystrophin, which is found in a variety of tissues, most notably skeletal muscle and neurones in particular regions of the CNS. Clinically DMD...
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2016
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-016-8193-1