Have you ever wondered what causes muscle weakness that worsens over time? This could indicate a neuromuscular disease affecting the nerves and muscles. Among such diseases is muscular dystrophy (MD), a rare genetic disorder that causes progressive muscle weakness and loss of muscle mass. While this diagnosis can be daunting, a neurologist is your most important ally.
At Neurocare of Nevada, our lead physician, Dr. Chopra, diagnoses neuromuscular disorders. This post will explore the types of muscular dystrophy and, most importantly, the neurologists’ role in diagnosing and managing them.
What is Muscular Dystrophy?
Muscular dystrophy isn’t a single disease; it’s a group of over 30 inherited genetic conditions. The term “dystrophy” literally means “wasting away.” In this case, it refers to the progressive deterioration of muscle tissue caused by a defect in the genes responsible for making the proteins needed for healthy muscle function.
Key characteristics of MD include:
- Muscle Wasting: It damages the muscles that control movement. Some forms can also affect the heart and the muscles that regulate breathing.
- Progressive Weakness: The disease worsens over time, and a person’s abilities can decline, often leading to a loss of the ability to walk.
- Inherited Condition: MD is typically passed down through genes from parents.
- Childhood Onset: Many forms of MD begin in childhood, although some types may not appear until adulthood.
For example, Duchenne and Becker muscular dystrophies primarily affect males. According to the Centers for Disease Control and Prevention (CDC), roughly 1 in 7,250 American males ages 5 to 24 are diagnosed with one of these two types.
Types and Symptoms of Muscular Dystrophy
An Overview of Common Types of Muscular Dystrophy
Muscular dystrophy (MD) refers to a group of genetic disorders that affect muscle strength and function. Each type has its own characteristics, age of onset, and rate of progression. Two of the most common forms are:
- Duchenne Muscular Dystrophy (DMD): The most common type, usually appearing in boys between the ages of 3 and 5.
- Becker Muscular Dystrophy (BMD): Shares features with Duchenne but tends to progress more slowly and often begins later, in late childhood or adolescence.
- Myotonic (Steinert’s disease): The most common form of adult-onset MD, characterized by the inability to relax muscles after contraction.
- Facioscapulohumeral (FSHD): This type often begins in the teen years, causing muscle weakness in the face, shoulders, and upper arms.
- Limb-girdle: Affects the muscles around the hips and shoulders first, usually starting in childhood or the teens.
The main symptom of MD is muscle weakness. Other symptoms can vary depending on the type, but often include:
- Frequent falls or trouble running and jumping
- A waddling gait or walking on the toes
- Enlarged calf muscles
- Difficulty getting up from a sitting or lying position
- Weakness in the face, neck, and limbs
- Learning disabilities
The Neurologist’s Role in Diagnosis
A neurologist can diagnose muscular dystrophy. An accurate and timely diagnosis allows treatment to begin as early as possible.
We may require a physical exam and diagnostic tests to assist with diagnosis. These tests may include:
- Electromyography (EMG): An EMG measures your muscles’ electrical activity to determine whether there are problems with communication between the nerves and muscles.
- Nerve Conduction Studies: These types of tests are used to measure how quickly electrical signals travel across your nerves.
- Muscle Biopsy: A small sample of muscle tissue is taken and examined under a microscope for signs of MD.
- Blood Tests: We may check your blood for an enzyme called creatine kinase, as high levels can indicate muscle damage.
- Genetic Testing is a key tool as it can confirm the diagnosis by identifying specific gene mutations and, in some cases, guide treatment.
Treatment and Management
While there is currently no cure for muscular dystrophy, treatment can significantly ease symptoms, slow progression, and improve a person’s quality of life. The goal is to develop a personalized, coordinated care plan.
A neurologist such as Dr. Chopra often takes the lead in coordinating care. The focus is on managing the condition in an organized way, so that all aspects of the disease are addressed consistently.
- Physical Therapists: They help maintain mobility, strength, and flexibility.
- Occupational Therapists: They assist with adapting to daily activities and maintaining independence.
- Pulmonologists: They manage respiratory issues that can arise from weakened breathing muscles.
- Cardiologists address heart problems that can occur in some forms of MD.
- Speech Therapists: They help with swallowing and communication difficulties.
Treatment options include medications, physical therapy, and assistive devices to support mobility.
With proper care and a coordinated team approach, individuals with muscular dystrophy can lead full and active lives. If you or a loved one is experiencing symptoms of muscle weakness, seek consultation with a neurologist who understands neuromuscular disorders.
Frequently Asked Questions
What is the difference between muscular dystrophy and other neuromuscular diseases?
Muscular dystrophy is a specific group of genetic neuromuscular diseases where muscles weaken and waste away over time. While all muscular dystrophies are neuromuscular diseases, not all neuromuscular diseases are muscular dystrophies. Other neuromuscular disorders can affect the nerves, the connection between nerves and muscles, or the muscles themselves. Still, they may not involve the same type of progressive muscle deterioration as MD.
Is there a cure for muscular dystrophy?
Currently, there is no cure for muscular dystrophy. However, significant progress has been made in treatments that can help manage symptoms, slow disease progression, and improve quality of life. Care aims to use a combination of medications, therapies, and supportive care to help patients live as actively and independently as possible.
What is the life expectancy for someone with muscular dystrophy?
Life expectancy for muscular dystrophy varies widely depending on the specific type of the disease and its severity. For example, Duchenne muscular dystrophy is more severe and has a shorter life expectancy than Becker muscular dystrophy. Thanks to advancements in medical care, particularly in respiratory and cardiac management, life expectancy for many forms of MD has increased over the past few decades.
Should I see a neurologist for muscle weakness?
Suppose you or a loved one is experiencing persistent or progressive muscle weakness, frequent falls, difficulty with everyday tasks like climbing stairs, or has a family history of muscular dystrophy or other neuromuscular disorders. In that case, you should consult with your primary care physician. They can refer you to a neurologist for a proper evaluation and diagnosis. A neurologist can determine the cause of your symptoms and recommend the appropriate course of action.
Disclaimer: This blog post is for informational purposes only and is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition.
