Becker Muscular Dystrophy: Difference between revisions

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<div class="editorbox"> '''Original Editor '''- [[User:User Name|User Name]] <br>
<div class="editorbox"> '''Original Editor '''- [https://www.physio-pedia.com/User:Shreya_Pavaskar Shreya Pavaskar]<br>


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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.<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>  
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 - A Case Study|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  ==
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== Clinical Presentation  ==
== Clinical Presentation  ==
* Delayed developmental motor milestones might be the first observation from parents.
* Clumsy
* Frequent falls
* Difficulty rising from floor, may show Gowers's sign (non-specific)
* Subclinical cases may manifest later in life; dilated cardiomyopathy can be the first sign of BMD.
* Contractures
* Weakness may be limited to specific proximal muscles
* Preservation of neck flexor muscle strength may be present<br>


add text here relating to the clinical presentation of the condition<br>  
== Diagnostic Procedures  ==
* Serum creatine kinase - moderate to severe elevation
* Dystrophin gene deletion analysis by gene analysis
* Muscle biopsy with dystrophin antibody staining
* Cardiac magnetic resonance imaging (MRI) 
* Electromyography
* Nerve conduction studies - expected to be normal
* Electrocardiogram/Echocardiogram 
* Pulmonary function test
* X-rays to detect any bone abnormalities due to contractures and wasting of muscles
<br>  


== Diagnostic Procedures ==
== Outcome Measures ==


add text here relating to diagnostic tests for the condition<br>  
Outcome measures to quantify disease progression, including:
* [[Six Minute Walk Test / 6 Minute Walk Test|6‐minute walking test]]
* [[North Star Ambulatory Assessment|North Star ambulatory assessment scale]],
* Time taken to climb four steps
* Time taken to rise from the floor
* [https://www.musculardystrophyuk.org/wp-content/uploads/2017/06/PUL2.0-Worksheet-V1.0-1st-May-2016.pdf Performance of upper limb.]
One of the limitations of these measures is the fact they target either ambulant or non‐ambulant patients<ref>Outcome measures in Duchenne muscular dystrophy: sensitivity to change, clinical meaningfulness, and implications for clinical trials Joana Domingos  Francesco Muntoni <nowiki>https://doi.org/10.1111/dmcn.13634</nowiki></ref>. However, as the disease progresses, the outcome measures change making it difficult to use a single outcome measure to analyze the patient. Studies are being carried out to create a uniform measure for the muscular dystrophies.


== Outcome Measures  ==
== Medical Management    ==


add links to outcome measures here (see [[Outcome Measures|Outcome Measures Database]])
No medications are provided to patients for the specific treatment of BMD.


== Management / Interventions  ==
Medications are administered to treat symptoms that are commonly are associated with BMD (such as cardiac medications for heart disease).


add text here relating to management approaches to the condition<br>  
Corticosteroid medications to help individuals remain able to walk for as long as possible by delaying the inflammatory process.<br>  


== Differential Diagnosis  ==
== Differential Diagnosis  ==
* [[Duchenne Muscular Dystrophy - A Case Study|Duchenne muscular dystrophy]]
* Distal muscular dystrophy
* [[Scapulo-humeral dystrophy]]
* [[Spinal muscular atrophy]]
* [[Inflammatory Myopathies|Inflammatory myopathy]]
<br>


add text here relating to the differential diagnosis of this condition<br>
== Resources    ==


== Resources    ==
[[Muscular Dystrophy]]


add appropriate resources here
[[Duchenne Muscular Dystrophy - A Case Study]]


== References  ==
== References  ==


<references />
<references />

Revision as of 13:01, 16 April 2021

This article or area is currently under construction and may only be partially complete. Please come back soon to see the finished work! (16/04/2021)

Original Editor - Shreya Pavaskar
Top Contributors - Shreya Pavaskar, Rucha Gadgil, Uchechukwu Chukwuemeka, Laura Ritchie, Kim Jackson and Kirenga Bamurange Liliane

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].

[4]


Clinical Presentation[edit | edit source]

  • Delayed developmental motor milestones might be the first observation from parents.
  • Clumsy
  • Frequent falls
  • Difficulty rising from floor, may show Gowers's sign (non-specific)
  • Subclinical cases may manifest later in life; dilated cardiomyopathy can be the first sign of BMD.
  • Contractures
  • Weakness may be limited to specific proximal muscles
  • Preservation of neck flexor muscle strength may be present

Diagnostic Procedures[edit | edit source]

  • Serum creatine kinase - moderate to severe elevation
  • Dystrophin gene deletion analysis by gene analysis
  • Muscle biopsy with dystrophin antibody staining
  • Cardiac magnetic resonance imaging (MRI) 
  • Electromyography
  • Nerve conduction studies - expected to be normal
  • Electrocardiogram/Echocardiogram 
  • Pulmonary function test
  • X-rays to detect any bone abnormalities due to contractures and wasting of muscles


Outcome Measures[edit | edit source]

Outcome measures to quantify disease progression, including:

One of the limitations of these measures is the fact they target either ambulant or non‐ambulant patients[5]. However, as the disease progresses, the outcome measures change making it difficult to use a single outcome measure to analyze the patient. Studies are being carried out to create a uniform measure for the muscular dystrophies.

Medical Management[edit | edit source]

No medications are provided to patients for the specific treatment of BMD.

Medications are administered to treat symptoms that are commonly are associated with BMD (such as cardiac medications for heart disease).

Corticosteroid medications to help individuals remain able to walk for as long as possible by delaying the inflammatory process.

Differential Diagnosis[edit | edit source]


Resources[edit | edit source]

Muscular Dystrophy

Duchenne Muscular Dystrophy - A Case Study

References[edit | edit source]

  1. ↑ Bushby KM, Thambyayah M, Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. The Lancet. 1991 Apr 27;337(8748):1022-4.
  2. ↑ 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.
  3. ↑ 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. 
  4. ↑ Medicosis Perfectionalis. Becker Muscular Dystrophy. Available from: http://www.youtube.com/watch?v=7Ult-apDFB8 [last accessed 16/4/2021]
  5. ↑ Outcome measures in Duchenne muscular dystrophy: sensitivity to change, clinical meaningfulness, and implications for clinical trials Joana Domingos  Francesco Muntoni https://doi.org/10.1111/dmcn.13634
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