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Becker's Muscular Dystrophy
Published in Charles Theisler, Adjuvant Medical Care, 2023
Becker’s muscular dystrophy is an inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. The disorder is similar to Duchenne muscular dystrophy. The main differences are that Becker’s gets worse at a much slower rate and is less common. There is no known cure for Becker’s muscular dystrophy.
Neurological Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
In Duchenne muscular dystrophy, most patients use wheelchairs by their teens and die in their twenties. Becker muscular dystrophy is much less severe, and most patients die with their disease rather than because of it.
Genetics
Published in Ibrahim Natalwala, Ammar Natalwala, E Glucksman, MCQs in Neurology and Neurosurgery for Medical Students, 2022
Ibrahim Natalwala, Ammar Natalwala, E Glucksman
Which of the following statements are true and which are false? Becker’s muscular dystrophy is associated with the DMD gene.Huntington’s disease (HD) is an autosomal dominant, trinucleotide repeat disorder of ‘GAC’.von Recklinghausen’s disease is a neuro-ectodermal syndrome associated with neurofibromatosis type 2.Friedreich’s ataxia is an autosomal dominant, trinucleotide repeat disorder of‘GAA’.Amyotrophic lateral sclerosis (ALS) is associated with a defect in superoxide dismutase 1 and is progressive and fatal.
Perspectives on the advances in the pharmacotherapeutic management of Duchenne muscular dystrophy
Published in Expert Opinion on Pharmacotherapy, 2022
Kelsie D. Kracht, Nicole L. Eichorn, Daniel J. Berlau
Duchenne muscular dystrophy (DMD) is an X-linked recessive trait seen primarily in boys, caused mostly by deletions and duplications (70–80%) and point mutations (20–30%) in the dystrophin gene [1]. It is passed on by mothers who are carriers for the disease and usually remain asymptomatic [1]. Mutation type is associated with the severity of disease as in-frame errors maintain the dystrophin gene, so shorter versions of the protein are made, resulting in a milder clinical presentation; if the error is an out-of-frame mutation, no dystrophin is made and has a more severe presentation [2]. Another related, but less common dystrophin mutation, is Becker muscular dystrophy (BMD). People with BMD have reduced dystrophin or abnormal dystrophin that has a less severe disease development with an onset of around 12 years of age or more [3]. The DMD gene is one of the largest in the human genome, encompassing 79 exons [1]. Dystrophin is found in the cytoskeleton of skeletal and cardiac muscles and tissues of the CNS where it binds to a dystrophin-associated protein complex (DAPC) in these three locations and is responsible for preserving muscle fibers by providing membrane stability and force transduction during contraction [4,5]. When dysfunctional, muscle is damaged leading to necrosis and subsequent inflammation and fibrosis [6]. Myofiber damage creates a chronic immune response due to the infiltration of neutrophils and macrophages with limited recovery and fibrotic remodeling [7,8].
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder caused by the lack of functional dystrophin protein.70 DMD causes progressive muscle weakness, appears at the age of 2–3 years old, and leads to death in the third decade.71 Becker muscular dystrophy is generally milder than DMD. Multiple isoforms of dystrophin are expressed in the central nervous system including the retinal layers.71 Dystrophin may play a role in retinal neurotransmission. Duchenne muscular dystrophy has not traditionally been included as retinal disease, and patients do not refer to any visual symptoms.72 However, abnormal scotopic electroretinograms (ERGs) were reported to be more frequent in DMD and Becker muscular dystrophy.73 Corticosteroids are a standard treatment for DMD, but side effects of corticosteroids such as cataracts or ocular hypertension are uncommon.74
Common therapeutic advances for Duchenne muscular dystrophy (DMD)
Published in International Journal of Neuroscience, 2021
Arash Salmaninejad, Yousef Jafari Abarghan, Saeed Bozorg Qomi, Hadi Bayat, Meysam Yousefi, Sara Azhdari, Samaneh Talebi, Majid Mojarrad
Duchenne muscular dystrophy (DMD) is the most prominent neuromuscular disorders that affecting about 1 in 5000 male live births and caused by gross deletions or duplications (70% of cases) and point mutations (30% of cases) in X-linked DMD gene. The product of the DMD gene is a cytoskeletal protein that functions as a linker between the dystrophin-associated protein complex (DAPC) and intracellular cytoskeleton γ-actin [1]. Generally, DMD emanates from genetic frame-shift mutations that result in abnormal and truncated product. On the other hand, Becker muscular dystrophy (BMD), a milder and slowly progressing form of this X-linked recessive muscular disorder, usually arise from the mutations that cause a shorter, lower molecular weight but partially functional of the gene product. DMD patients typically represent increasing weakness, growing skeletal muscle wasting leading to wheelchair dependency by the age of 10, a later-onset cardiomyopathy and finally untimely death during second to fourth decade of life [2]. This gene and its products were identified during the mid-nineteenth century. Chromosomal locus of the DMD gene is identified by two independent approaches, first take advantage of the X/autosome translocation and also take advantage of a contiguous gene deletion syndrome in patient BB [3].