Decreased Aerobic Capacity in ANO5-Muscular Dystrophy
نویسندگان
چکیده
منابع مشابه
Amyloidosis and exercise intolerance in ANO5 muscular dystrophy.
Anoctamin 5 and dysferlin mutations can result in myopathies with similar clinical phenotype. Amyloid deposits can occur in the muscle of patients with dysferlinopathy. We describe a 53-year-old woman with exercise intolerance since childhood, recurrent rhabdomyolysis and late-onset weakness. Muscle biopsy showed amyloid deposits within the blood vessel walls and around muscle fibers. Mutation ...
متن کاملNovel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.
INTRODUCTION We present a Jordanian man with the typical LGMD 2L phenotype of early, asymmetric quadriceps weakness and subsequent biceps brachii weakness. METHODS Case report. RESULTS Muscle biopsies document a progressive dystrophic pattern unrelated to known sarcolemmal defects associated with muscular dystrophy. Genetic testing revealed novel, heterozygote Anoctamin 5 gene mutations. ...
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One of the first questions patients and families ask when diagnosed with a neuromuscular disorder is “Will exercise help or hurt?” This query is understandable given the multiple historical examples of exercise overcoming weakness and building strength, dating back to Milo of Croton in the 6th century, who practiced the progressive resistance of lifting his growing bull calf, up through more co...
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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...
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Adult and pediatric patients with ESRD have impaired maximum oxygen consumption (VO(2) max), a reflection of the cardiopulmonary system's ability to meet increased metabolic demands. We sought to determine factors associated with decreased VO(2) max in pediatric patients with different stages of CKD. VO(2) max was measured using a standardized exercise testing protocol in patients with stage 2 ...
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ژورنال
عنوان ژورنال: Journal of Neuromuscular Diseases
سال: 2016
ISSN: 2214-3599,2214-3602
DOI: 10.3233/jnd-160186