Becker Muscular Dystrophy: Difference between revisions
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== Introduction == | == Introduction == | ||
Becker muscular dystrophy (BMD)—one of a spectrum of X-linked muscular dystrophies shows the same pattern of muscle involvement as seen in Duchenne muscular dystrophy (DMD), but with a more slowly progressive clinical course. | Becker muscular dystrophy (BMD)—one of a spectrum of X-linked muscular dystrophies shows the same pattern of muscle involvement as seen in Duchenne muscular dystrophy (DMD), but with a more slowly progressive clinical course.<ref>Bushby KM, Thambyayah M, Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. The Lancet. 1991 Apr 27;337(8748):1022-4.</ref> | ||
== Clinically Relevant Anatomy == | == Clinically Relevant Anatomy == | ||
Dystrophin is responsible for connecting the cytoskeleton of each muscle fiber to the underlying basal lamina. The absence of dystrophin stops calcium entering the cell membrane affecting the signaling of the cell, water enters the mitochondria causing the cell the burst. In a complex cascading process that involves several pathways, increased oxidative stress within the cell damages the sarcolemma resulting in the death of the cell, and muscle fibers undergo necrosis and are replaced with connective tissue. | |||
== | == Pathological Process == | ||
BMD is a type of recessive, X-linked dystrophinopathy. Clinical variations in patients with BMD are due to differences in dystrophin mutations from exon deletions<ref>Nicolas A, Raguénès-Nicol C, Ben Yaou R, Ameziane-Le Hir S, Chéron A, Vié V, Claustres M, Leturcq F, Delalande O, Hubert JF, Tuffery-Giraud S. Becker muscular dystrophy severity is linked to the structure of dystrophin. Human molecular genetics. 2015 Mar 1;24(5):1267-79.</ref>. | |||
Dystrophin levels in BMD are generally 30-80% of normal, while in DMD, the levels are less than 5%<ref>Angelini C, Fanin M, Pegoraro E, et al. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes. ''Neuromuscul Disord''. 1994 Jul. 4(4):349-58. </ref>. | |||
{{#ev:youtube|7Ult-apDFB8|300}}<ref>Medicosis Perfectionalis. Becker Muscular Dystrophy. Available from: http://www.youtube.com/watch?v=7Ult-apDFB8 [last accessed 16/4/2021]</ref> | |||
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== Clinical Presentation == | == Clinical Presentation == | ||
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Introduction[edit | edit source]
Becker muscular dystrophy (BMD)—one of a spectrum of X-linked muscular dystrophies shows the same pattern of muscle involvement as seen in Duchenne muscular dystrophy (DMD), but with a more slowly progressive clinical course.[1]
Clinically Relevant Anatomy[edit | edit source]
Dystrophin is responsible for connecting the cytoskeleton of each muscle fiber to the underlying basal lamina. The absence of dystrophin stops calcium entering the cell membrane affecting the signaling of the cell, water enters the mitochondria causing the cell the burst. In a complex cascading process that involves several pathways, increased oxidative stress within the cell damages the sarcolemma resulting in the death of the cell, and muscle fibers undergo necrosis and are replaced with connective tissue.
Pathological Process[edit | edit source]
BMD is a type of recessive, X-linked dystrophinopathy. Clinical variations in patients with BMD are due to differences in dystrophin mutations from exon deletions[2].
Dystrophin levels in BMD are generally 30-80% of normal, while in DMD, the levels are less than 5%[3].
Clinical Presentation[edit | edit source]
add text here relating to the clinical presentation of the condition
Diagnostic Procedures[edit | edit source]
add text here relating to diagnostic tests for the condition
Outcome Measures[edit | edit source]
add links to outcome measures here (see Outcome Measures Database)
Management / Interventions[edit | edit source]
add text here relating to management approaches to the condition
Differential Diagnosis[edit | edit source]
add text here relating to the differential diagnosis of this condition
Resources[edit | edit source]
add appropriate resources here
References[edit | edit source]
- ↑ Bushby KM, Thambyayah M, Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. The Lancet. 1991 Apr 27;337(8748):1022-4.
- ↑ Nicolas A, Raguénès-Nicol C, Ben Yaou R, Ameziane-Le Hir S, Chéron A, Vié V, Claustres M, Leturcq F, Delalande O, Hubert JF, Tuffery-Giraud S. Becker muscular dystrophy severity is linked to the structure of dystrophin. Human molecular genetics. 2015 Mar 1;24(5):1267-79.
- ↑ Angelini C, Fanin M, Pegoraro E, et al. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes. Neuromuscul Disord. 1994 Jul. 4(4):349-58.
- ↑ Medicosis Perfectionalis. Becker Muscular Dystrophy. Available from: http://www.youtube.com/watch?v=7Ult-apDFB8 [last accessed 16/4/2021]
