Muscular Dystrophy – Symptoms and Causes
Muscle-weakening disorders involve progressive loss of muscle strength due to genetic mutations. These mutations affect protein production needed for healthy muscle function.
These conditions can appear in childhood, particularly affecting boys. They may also develop later in adulthood.
While there is no cure for these disorders, several approaches can help manage symptoms:
- Medications to reduce inflammation and slow muscle degeneration
- Physical therapy to maintain mobility and prevent joint stiffness
- Respiratory care for those with weakened breathing muscles
- Mobility aids such as braces, wheelchairs, and scooters
- Genetic counseling for families with a history of these conditions
Signs of Muscle Weakness
Duchenne Muscular Dystrophy
This is the most common type, mainly affecting boys, though girls can carry the gene and show mild symptoms. Signs usually appear in early childhood and include:
- Falling often
- Struggling to get up from sitting or lying down
- Difficulty with running and jumping
- Walking with a waddle
- Walking on tiptoes
- Enlarged calf muscles
- Pain and stiffness in muscles
- Learning challenges
- Slow growth
Becker Muscle Dystrophy
The symptoms of Becker muscular dystrophy are similar to Duchenne, but are generally milder and develop more slowly. Most people notice symptoms in their teenage years, though they can start in their mid-20s or later.
Additional Types of Muscle Weakness
Different types of muscle weakness can be identified by specific features or where symptoms first appear:
Myotonic Dystrophy
This type causes muscles to stay tight after use. The muscles in the face and neck are typically the first to experience weakening. People often have:
- Long, thin facial features
- Droopy eyelids
- Thin neck appearance
Facioscapulohumeral Muscular Dystrophy (FSHD)
Weakness typically begins in the face, hips, and shoulders. When raising arms, shoulder blades may stick out. Symptoms usually start in the teen years but can begin anytime from childhood to age 50.
Congenital Myopathy
Affects both boys and girls and shows up at birth or before age 2. Some forms progress slowly with mild disability, while others worsen quickly and cause severe limitations.
Limb-Girdle Muscular Dystrophy (LGMD)
The hip and shoulder muscles are typically the first to experience weakness. People may have trouble lifting the front of their foot, causing frequent tripping. This type usually begins in childhood or the teenage years.
When to See a Doctor
If you or your child starts showing signs of muscle weakness, it’s important to get medical help. Watch for these warning signs:
- Frequent clumsiness
- Falling more often than usual
- Difficulty with normal movements
Don’t wait if these symptoms appear. Early medical attention can help identify the cause and start proper treatment.
Why Muscular Dystrophy Happens
Muscular dystrophy develops when specific genes have defects. These genes normally create proteins that protect and maintain muscle fibers.
When a gene has a mutation, these protective proteins either don’t form correctly or are missing completely.
Each type of muscular dystrophy stems from a unique genetic mutation. Most people inherit these mutations from their parents through their DNA.
The specific mutation determines which form of the disease a person will have and how it will affect their muscles.
Risk Factors
Muscular dystrophy affects people across all ages, races, and genders. The Duchenne form most commonly appears in young boys. Those with muscular dystrophy in their family history have a higher chance of:
- Developing the condition themselves
- Passing the genetic disorder to their children
Family medical history plays an important role in assessing one’s risk for this condition.
Complications
Progressive muscle weakness leads to several complications that affect daily life. These include:
Walking Difficulties: Many patients find walking becomes more difficult over time. Some eventually need wheelchairs for mobility.
Limited Arm Function: When arm and shoulder muscles weaken, everyday tasks become challenging.
Joint Contractures: Muscles and tendons around joints can shorten, further restricting movement.
Respiratory Issues: Weakened breathing muscles may require ventilation support. At first, this is needed during sleep, and possibly later in the day.
Scoliosis: Spine curvature often develops when back muscles can’t properly support the spine.
Cardiac Complications: Heart muscle efficiency may decrease, leading to various heart problems.
Swallowing Challenges: When throat muscles weaken, patients may experience nutritional problems. They also face the risk of pneumonia from inhaling food. Some people might need feeding tubes.
These complications vary in severity. The severity depends on the individual’s condition and progression rate.
