Question 1

What is Muscular Dystrophy?

Accepted Answer

Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration. It is caused by mutations in genes responsible for producing proteins essential for muscle structure and function, particularly dystrophin. The Creatine Kinase (CK) Total test is the most important test for monitoring muscle damage and disease progression in muscular dystrophy.

Question 2

What causes muscular dystrophy?

Accepted Answer

Muscular dystrophy is caused by genetic mutations that affect proteins essential for muscle structure and function, particularly dystrophin and other structural proteins. These mutations are inherited in different patterns, including X-linked recessive (affecting mainly males in Duchenne and Becker types), autosomal dominant, and autosomal recessive forms. When these proteins are absent or defective, muscle fibers become vulnerable to damage during normal contraction and relaxation, leading to progressive weakness, muscle wasting, and eventual loss of mobility.

Question 3

What is the best test for muscular dystrophy?

Accepted Answer

The Creatine Kinase (CK) Total test is the most important blood test for muscular dystrophy because it detects elevated levels of this muscle enzyme that leak into the bloodstream when muscle fibers break down. CK levels can be significantly elevated, sometimes 10 to 100 times higher than normal, making it an essential marker for monitoring disease activity and progression. Additional supporting tests include Aldolase and Lactic Acid Dehydrogenase (LDH), which provide complementary information about muscle damage. While blood tests cannot definitively diagnose muscular dystrophy, they are crucial tools used alongside genetic testing and muscle biopsies to confirm the diagnosis and track how the disease progresses over time.

Question 4

When should I get tested for muscular dystrophy?

Accepted Answer

You should get tested if you notice progressive muscle weakness, frequent falls or difficulty walking, trouble getting up from sitting or lying down positions, enlarged calf muscles despite weakness, or if you have a family history of muscular dystrophy. Children who experience delayed motor milestones, such as late walking or difficulty running and jumping, should also be evaluated. Early testing is important because it allows for timely intervention, access to appropriate therapies, and better management of symptoms to maintain quality of life for as long as possible.

Question 5

What are the symptoms of muscular dystrophy?

Accepted Answer

Symptoms of muscular dystrophy include progressive muscle weakness that typically begins in the hips, thighs, shoulders, and upper arms, frequent falls and difficulty running or jumping, a waddling gait or walking on toes, enlarged calf muscles that appear unusually bulky despite weakness, difficulty rising from the floor or climbing stairs, and fatigue during physical activities. As the disease progresses, you might experience loss of reflexes, muscle stiffness or contractures, curvature of the spine (scoliosis), breathing difficulties due to weakened respiratory muscles, and heart problems in some types. The age of onset and severity varies depending on the specific type of muscular dystrophy.

Question 6

Who is at risk for muscular dystrophy?

Accepted Answer

People with a family history of muscular dystrophy are at highest risk, as the condition is inherited through genetic mutations passed from parents to children. Males are at greater risk for Duchenne and Becker muscular dystrophy because these types are X-linked recessive disorders. Individuals with a parent who carries a muscular dystrophy gene mutation have varying risk levels depending on the inheritance pattern, ranging from 25% to 50% chance of inheriting the condition. Certain ethnic populations have slightly higher carrier rates for specific types. Genetic counseling and carrier testing are recommended for families with a history of muscular dystrophy when planning to have children.

Question 7

What happens if muscular dystrophy is left untreated?

Accepted Answer

If muscular dystrophy is left unmanaged, progressive muscle weakness leads to loss of mobility, with most individuals eventually requiring wheelchairs or other mobility devices. Respiratory muscles become weakened, causing breathing difficulties that can lead to life-threatening respiratory infections and failure, often requiring ventilator support. Cardiac complications develop in many types, including cardiomyopathy and irregular heart rhythms that can result in heart failure. Skeletal deformities worsen, including severe scoliosis and joint contractures that cause pain and further limit movement. Early intervention with physical therapy, corticosteroids, cardiac medications, and respiratory support can significantly slow progression and improve quality of life.

Question 8

Can muscular dystrophy be diagnosed with a blood test?

Accepted Answer

Blood tests alone cannot definitively diagnose muscular dystrophy, but they provide critical evidence of muscle damage that supports the diagnosis. Elevated creatine kinase (CK) levels are often the first laboratory finding that prompts further investigation, sometimes detected even before symptoms appear. Blood tests help differentiate muscular dystrophy from other muscle disorders and monitor disease progression over time. Definitive diagnosis requires genetic testing to identify specific gene mutations, and often a muscle biopsy to examine muscle tissue under a microscope and assess protein levels like dystrophin. The combination of elevated blood enzyme levels, genetic testing results, clinical symptoms, and family history provides a complete diagnostic picture.

Question 9

How is muscular dystrophy treated?

Accepted Answer

Muscular dystrophy treatment focuses on managing symptoms and slowing disease progression through a multidisciplinary approach. Corticosteroids like prednisone and deflazacort help slow muscle deterioration and prolong walking ability. Physical therapy and stretching exercises maintain flexibility and prevent contractures, while assistive devices like braces, walkers, and wheelchairs support mobility. Respiratory support includes breathing exercises, cough-assist devices, and eventually ventilators as breathing muscles weaken. Cardiac medications manage heart complications, and surgical interventions address scoliosis and tendon contractures. Newer treatments include gene therapy and exon-skipping drugs for specific types of muscular dystrophy, offering hope for disease modification rather than just symptom management.

Question 10

How can I prevent muscular dystrophy?

Accepted Answer

Muscular dystrophy cannot be prevented because it is caused by inherited genetic mutations present from birth. However, genetic counseling before pregnancy helps families understand their risk of passing the condition to children, and carrier testing identifies individuals who carry muscular dystrophy gene mutations. Prenatal testing options like chorionic villus sampling and amniocentesis can detect muscular dystrophy in developing babies. Preimplantation genetic diagnosis (PGD) used with in vitro fertilization allows selection of embryos without the mutation. For families with a known history of muscular dystrophy, these reproductive options provide ways to make informed decisions and potentially prevent transmission to future generations.

Question 11

What can I do at home for muscular dystrophy?

Accepted Answer

At home, maintain a regular routine of gentle stretching and range-of-motion exercises to prevent joint stiffness and contractures. Eat a balanced diet rich in protein, calcium, and vitamin D to support muscle and bone health, while avoiding excessive weight gain that places extra strain on weakened muscles. Modify your living space with accessibility features like ramps, grab bars, and raised toilet seats to maintain independence and prevent falls. Use breathing exercises and techniques taught by respiratory therapists to strengthen respiratory muscles. Stay socially connected and consider joining support groups for emotional support, as managing a chronic condition affects mental health. Regular follow-up with your healthcare team ensures you receive appropriate interventions as your needs change.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
                In the test options, use the filters or search box to narrow your choices and find the test you want.
                If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
                Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout.
                If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want.
                When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
                Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way.
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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
            If you’re not sure which test to get, we can lend a hand in finding the right option.
            Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
            After your blood draw, just hang tight and don't worry – we'll keep you updated and in the loop!
            If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com, and we'll gladly help you.

Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
            Just reach out to us via text at 754-799-7833 or shoot us an email at
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            Our awesome team will jump right in and make sure everything is sorted out and accurate for you.
            There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.
            Our lab requires an address to be listed to generate an order.

Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
            Our services are strictly self-pay and cannot be submitted to your health insurance provider except for Health Savings Accounts or Flexible Savings Accounts.
            This policy applies to all insurance companies, including federal health insurance programs like Medicare.
            If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com.

Question 17

Can I cancel my order?

Accepted Answer

Yes.
            We get it – sometimes your needs change.
            As long as your samples haven’t been collected yet, we’re happy to help you cancel your order.
            If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com.
            You can read more about our cancellation policy here.

Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
            You can switch it up later easily and visit any of our authorized locations as long as it’s the same lab company you selected your test for (Quest Diagnostics or Labcorp).
            Before you proceed with your order, feel free to browse through all our lab locations here. This will give you the peace of mind of knowing that there's a lab nearby your home, office or your favorite gym.
            If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.

Muscular Dystrophy Blood Test

What is Muscular Dystrophy?

What causes muscular dystrophy?

What is the best test for muscular dystrophy?

When should I get tested for muscular dystrophy?

References

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