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Understanding Muscular Dystrophy: Symptoms, Diagnosis, and Treatment Options

Alan Lucks | MD

Medically reviewed by Alan Lucks | MD, Alan Lucks MDPC Private Practice - New York on March 17th, 2024.

Key Takeaways

  • Duchenne muscular dystrophy, the most common form, typically appears by age 3-5 with symptoms progressing to wheelchair dependence by age 12, while Becker dystrophy has a milder course with walking ability often preserved into adulthood.
  • The condition stems from mutations in genes producing dystrophin and other essential muscle proteins—over 30 distinct types exist, each following different inheritance patterns including X-linked, autosomal dominant, and recessive.
  • Early signs include delayed motor milestones, difficulty climbing stairs, enlarged calf muscles (pseudohypertrophy), and the characteristic Gowers' sign where children use their hands to "walk up" their legs when standing.
  • Corticosteroids like predisolone can extend walking ability by 2-3 years and reduce scoliosis risk, while newer treatments include gene therapies and exon-skipping drugs that target specific genetic defects.
  • Respiratory complications are the leading cause of death, with assisted ventilation often required when forced vital capacity drops below 50% of predicted values, typically in the teenage years for severe forms.

Muscular dystrophy is a group of genetic disorders that cause progressive muscle weakness and loss of muscle mass. While there are many types of muscular dystrophy, they all share a common characteristic: the gradual deterioration of muscle strength over time. If you or a loved one has been diagnosed with muscular dystrophy, it's essential to understand the symptoms, diagnosis process, and available treatment options.

What Causes Muscular Dystrophy?

Muscular dystrophy is caused by mutations in the genes responsible for producing proteins that protect and maintain healthy muscles. When these proteins are missing or not functioning correctly, the muscles become weak and damaged over time. In most cases, muscular dystrophy is inherited from a parent who carries the defective gene.

Symptoms of Muscular Dystrophy

The symptoms of muscular dystrophy vary depending on the specific type of the disorder. However, some common signs and symptoms include:

  • Muscle weakness, particularly in the legs and pelvis

  • Difficulty walking, running, or jumping

  • Frequent falls

  • Muscle cramps and stiffness

  • Difficulty getting up from a sitting or lying position

  • Skeletal deformities, such as scoliosis (curved spine)

  • Breathing and swallowing difficulties

  • Heart problems

Diagnosing Muscular Dystrophy

To diagnose muscular dystrophy, your doctor will conduct a thorough physical examination and review your medical and family history. They may also recommend several tests, including:

  • Blood tests to measure enzyme levels and detect genetic mutations

  • Electromyography (EMG) to assess muscle and nerve function

  • Muscle biopsy to examine muscle tissue for signs of damage or abnormalities

  • Imaging tests, such as MRI or ultrasound, to visualize the muscles

  • Genetic testing to identify specific gene mutations

Understanding Muscular Dystrophy: Symptoms, Diagnosis, and Treatment Options

Treatment Options for Muscular Dystrophy

While there is currently no cure for muscular dystrophy, several treatment options can help manage symptoms, maintain muscle function, and improve quality of life. These include:

  • Physical therapy to maintain muscle strength and flexibility

  • Occupational therapy to help with daily activities and adaptive equipment

  • Speech therapy to address swallowing and communication difficulties

  • Respiratory therapy to support breathing function

  • Medications to reduce inflammation, manage pain, and slow muscle damage

  • Surgery to correct skeletal deformities or address heart problems

In addition to medical treatments, adopting a healthy lifestyle can also help manage muscular dystrophy. This includes maintaining a balanced diet, staying active within your abilities, getting adequate rest, and using assistive devices as needed.

Living with Muscular Dystrophy

Living with muscular dystrophy can be challenging, but with proper care and support, many people with the condition lead fulfilling lives. It's essential to work closely with your healthcare team to develop a comprehensive treatment plan tailored to your specific needs. Joining a support group or connecting with others who have muscular dystrophy can also provide valuable emotional support and practical advice.

For more information and resources on muscular dystrophy, visit the Muscular Dystrophy Association, National Institute of Neurological Disorders and Stroke, or the Centers for Disease Control and Prevention.

The Bottom Line

Early genetic testing and prompt initiation of corticosteroids can significantly slow disease progression and preserve function longer. The key is starting comprehensive care before severe weakness develops, including respiratory monitoring and physical therapy to prevent contractures. If you notice delayed motor development or progressive weakness in yourself or your child, Doctronic can help connect you with appropriate testing and specialist care.

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