While DMD is much rarer in females than males (1 in 50 million female births vs 1 in 3,500-6,000 male births), it can occur in females. Most females who carry the DMD gene mutation don't develop the condition because they have a second healthy X chromosome that acts as a backup.
However, some female carriers (2.5-20%) may Show Full Answer
While DMD is much rarer in females than males (1 in 50 million female births vs 1 in 3,500-6,000 male births), it can occur in females. Most females who carry the DMD gene mutation don't develop the condition because they have a second healthy X chromosome that acts as a backup.
However, some female carriers (2.5-20%) may develop milder DMD symptoms, usually appearing later in life during teens or early adulthood. Female carriers can experience:
• Milder muscle weakness
• Difficulty walking and climbing stairs
• Heart problems like cardiomyopathy
• Breathing issues including sleep apnea
In rare cases, females may develop full DMD symptoms due to:
• Spontaneous genetic mutations
• Skewed X-inactivation (where more cells use the affected X chromosome)
June 10, 2025