Muscular dystrophy (MD) is a genetic disorder that leads to worsening muscle weakness over time. There are over 30 different types of this condition, which vary based on factors like which muscles are affected, when symptoms appear, and the speed of progression. About 250,000 people in the United States are diagnosed with some type of muscular dystrophy, with the most common forms being Duchenne and Becker.
Although there isn’t currently a cure or way to prevent muscular dystrophy if you have the genetic mutations, there are treatments available to help manage and slow down the symptoms. These disorders are part of a group of more than 30 conditions that progressively weaken muscles.
The main indicator of muscular dystrophy is muscle weakness that worsens with time, and which muscles are impacted often depends on the specific type of muscular dystrophy. Symptoms can change and get more intense as the disease advances. For example, early signs of Duchenne MD often include trouble climbing stairs, frequent falling, and a waddling walk. As the condition progresses, independent walking might no longer be possible, and some may require a ventilator to assist with breathing due to muscle weakness.
Most types of muscular dystrophy result from mutations in genes that impact muscle proteins, which are typically inherited from parents, although sometimes these mutations can occur spontaneously. These mutations can be passed down to children, and there are a few common inheritance patterns: autosomal dominant, autosomal recessive, and X-linked recessive.
In autosomal dominant inheritance, only one parent needs to have the mutated gene for it to be passed to the child, giving a 50% chance of inheritance if one parent has the gene. Autosomal recessive inheritance requires both parents to carry the mutated gene, with a 25% chance of passing it on to their child if each parent has one copy. X-linked recessive genes, found on the X chromosome, affect males more frequently since they have only one X chromosome.
To diagnose muscular dystrophy, doctors will ask about your health history and symptoms, then conduct tests to confirm the diagnosis and rule out other conditions. These may include nervous system evaluations, heart tests, exercise tests, and imaging. While there is no cure for MD, available treatments aim to slow progression and lessen symptoms severity. Each person with MD needs personalized support and treatment, which can vary widely depending on the type of MD.
Living with muscular dystrophy is different for everyone and changes as the disease progresses. Quality of life and life expectancy can vary greatly, with ongoing research striving to better understand MD and develop new treatments and support tools. While spontaneous mutations causing MD can occur later in life, intense research is continuously conducted to grasp it better and explore new ways to help those affected.
