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Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, however the hallmark of Becker is milder in-frame deletions. [4] and hence has a milder course, with patients maintaining ambulation till 50–60 years if detected early. [7] [8]
Currently, there is no cure for muscular dystrophy. In terms of management, physical therapy, occupational therapy, orthotic intervention (e.g., ankle-foot orthosis), [26] [27] speech therapy, and respiratory therapy may be helpful. [26] Low intensity corticosteroids such as prednisone, and deflazacort may help to maintain muscle tone. [28]
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. [1] In DM, muscles are often unable to relax after contraction. [1] Other manifestations may include cataracts, intellectual disability and heart conduction problems.
In 1986, MDA-funded researcher Louis M. Kunkel identified the dystrophin gene, the gene for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). [51] MDA funded the first gene therapy trial in 1999, followed by the first vector based gene therapy trial for DMD in 2006. [52]
Congenital muscular dystrophies (CMDs) are autosomal recessively inherited, except in some cases of de novo gene mutation and Ullrich congenital muscular dystrophy. [8] [9] This means that in most cases, both parents must be carriers of a CMD gene in order for it to be inherited. CMDs are heterogenous and thus far there have been 35 genes ...
Duchenne muscular dystrophy is the most common type of muscular dystrophy, [3] with a median life expectancy of 27–31 years. [5] [11] However, with comprehensive care, some individuals may live into their 30s or 40s. [3] Duchenne muscular dystrophy is considerably rarer in females, occurring in approximately one in 50,000,000 live female ...
Peter Emil Becker (23 November 1908 – 7 October 2000) was a German neurologist, psychiatrist and geneticist. [1] He is remembered for his studies of muscular dystrophies. Becker's muscular dystrophy (OMIM 300376) and Becker myotonia (OMIM 255700) are named after him.