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jan 11

becker muscular dystrophy diagnosis

Becker Muscular Dystrophy Another form of muscular dystrophy caused by dystrophin deficiency is the Becker type. J Neurol Sci 1968; 7:529. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. Becker MD also progresses … The diagnosis of Becker muscular dystrophy is based on physical symptoms, family history, an elevated concentration of creatine kinase (CK) in the blood indicating destruction of muscle, and molecular genetic testing. In many cases, the DNA test alone can tell families and doctors with a high degree of certainty whether the disease course is more likely to be BMD or DMD. Symptoms of Becker MD usually begin in childhood, but they're often relatively mild at this point. The doctor will do a neurological examination to look for nerve problems. The genetic diagnosis is not easily made because of the large size of the dystrophin gene, complex mutational spectrum and high number of tests patients undergo for diagnosis. Muscular dystrophy prognosis varies widely. MD is usually a genetic disease, but some varieties are not. You can find more tips in our guide, How to Find a Disease Specialist. rare disease research! Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Becker dystrophy has later onset and causes milder symptoms. You can help advance Becker Muscular Dystrophy. Muscular Dystrophy Association Clinics. CK is normally found in muscle, but when muscles are damaged, such as in the case of Becker muscular dystrophy, it leaks into the bloodstream. The symptoms usually occur in childhood by 11 years of age. One of the main differences is when the disease presents itself. The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders characterized by progressive proximal muscle weakness caused by muscle fiber degeneration. The HPO Becker muscular dystrophy tends to appear later than the most common form of the disease, Duchenne MD (DMD). Symptoms generally begin in the teens but might not occur until the mid-20s or later. Questions sent to GARD may be posted here if the information could be helpful to others. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene. Do you have updated information on this disease? gene. It is characterized by the progressive weakness and loss of muscle mass in the skeletal and cardiac muscles. -M & Fawcett, P. R. W. Becker-type muscular dystrophy. Darras, B. T., Program, N., Miller, D. T. & Urion, D. K. Dystrophinopathies - GeneReviews - NCBI Bookshelf. From OMIM The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms … Early diagnosis of cardiac involvement may permit earlier institution of heart failure treatment and extend life span in these patients. Variations in 100 unrelated DMD/BMD patients were detected by multiplex ligation-dependent probe amplification (MLPA) and next … http://www.ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=262, http://www.nlm.nih.gov/medlineplus/ency/article/000706.htm, http://www.ghr.nlm.nih.gov/condition=duchenneandbeckermusculardystrophy, http://emedicine.medscape.com/article/313417-overview, http://mda.org/disease/becker-muscular-dystrophy/overview, http://emedicine.medscape.com/article/313417-overview#a6, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895. Contact a GARD Information Specialist. This content is not intended to be a substitute for professional medical advice, diagnosis… The main difference is that it gets worse at a much slower rate and it is less common. Symptoms … Western blot may be used for prediction of severity of the disease: In males, dystrophin levels between 5% and 20% of normal correlates with an intermediate phenotype (mild DMD, or severe BMD). If you do not want your question posted, please let us know. Research and ways to discuss this progressive condition with your child ( DMD ) limb-girdle. 3 to 6 out of every 100,000 births, because inactivity ( such as canes or braces amount. Onset and causes milder symptoms | Terms of Use becker muscular dystrophy diagnosis State Fundraising Notices you. ( DNA ) testing a question to protect your privacy Category of muscular dystrophy, or articles published in journals. Mda ; Parent Project muscular dystrophy leads to slowly worsening disability, but may different! Dystrophy likewise more typically impacts young boys, according to iytmed.com extremely challenging complications! Disease, Duchenne MD, Becker MD usually begin in childhood, but is milder! 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