Which of the following is false about Duchenne muscular dystrophy?
**Question:** Which of the following is false about Duchenne muscular dystrophy?
A. It affects primarily boys
B. It is caused by mutations in the dystrophin gene
C. It is characterized by progressive muscle weakness and wasting
D. It has a variable age of onset and progression
**Core Concept:** Duchenne muscular dystrophy (DMD) is a severe, X-linked genetic disorder that primarily affects boys due to mutations in the dystrophin gene. The dystrophin gene produces a protein called dystrophin, which is essential for maintaining the structural integrity of muscle cells.
**Why the Correct Answer is Right:** DMD is characterized by a progressive muscle weakness and wasting due to the deficiency of dystrophin protein. The muscle cells are unable to withstand the mechanical stress during contraction, leading to muscle degeneration and replacement with fatty and fibrous tissue.
**Why Each Wrong Option is Incorrect:**
A. Option A is correct and refers to the gender predilection of DMD. It is a severe X-linked genetic disorder, affecting predominantly male children due to the X-linked inheritance pattern and the absence of functional dystrophin gene on the X chromosome in males.
B. Option B is incorrect because X-linked genetic disorders affect both males and females, but the severity and manifestations differ based on the genetic makeup of the individual. In DMD, females with two functional dystrophin genes (XY) are usually asymptomatic carriers, while males with a single functional gene (XY) have the severe form of the disease.
C. Option C is correct, describing the main clinical manifestation of DMD. Boys with DMD experience progressive muscle weakness, particularly in the proximal muscles of the limbs and the core muscles, leading to difficulties in walking, running, swallowing, and breathing.
D. Option D is correct as DMD has a relatively fixed age of onset and progression. Typically, symptoms first appear between the ages of 2-4 years, with muscle weakness and delayed milestones. As the disease progresses, patients become wheelchair-bound at around 12-18 years, lose the ability to walk between 10-12 years, and require ventilatory support in the teenage years due to respiratory muscle involvement.
**Clinical Pearl:** Duchenne muscular dystrophy is a severe X-linked genetic disorder caused by mutations in the DMD gene, which encodes for dystrophin protein. The absence of dystrophin leads to muscle degeneration, weakness, and functional impairment over time.
**Why DMD has a fixed progression:** The progression of DMD is fixed due to the progressive loss of functional dystrophin protein, which is essential for maintaining the structural integrity of muscle fibers. As the disease progresses, muscle fibers undergo necrosis, and the immune system is unable to effectively clear the necrotic debris, leading to chronic inflammation and fibrosis within the muscles. This results in a fixed progression of the disease rather than a variable onset or rate of progression.