Duchenne muscular dystrophy pathophysiology

Duchenne muscular dystrophy Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Pathophysiology

Physiology

The normal physiology of dystrophin protein can be understood as follows:

Dystrophin protein is a part of the protein complex named dystrophin-associated protein complex (DAPC) which acts as an anchor that connect the intracellular cytoskeleton proteins such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan to the extra cellular matrix. This protein guaranties muscle strength and integrity. The absence of this protein or misfolded protein leads to decreased strength, increased instability, and deformity of sarcolemmal.

Pathogenesis

• It is understood that Duchenne muscular dystrophy is the result of genetic mutation of dystrophin gene located on X-chromosome.
• Duchenne muscular dystrophy arises from muscle cells, which are involved in muscular contraction.

Genetics

https://en.wikipedia.org/wiki/File:Ideogram_human_chromosome_X.svg

[Disease name] is transmitted in [mode of genetic transmission] pattern.

OR

Genes involved in the pathogenesis of [disease name] include:

• [Gene1]
• [Gene2]
• [Gene3]

OR

The development of [disease name] is the result of multiple genetic mutations such as:

• [Mutation 1]
• [Mutation 2]
• [Mutation 3]

Associated Conditions

Conditions associated with [disease name] include:

• [Condition 1]
• [Condition 2]
• [Condition 3]

Gross Pathology

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].