Muscular dystrophy is a condition that may be misunderstood by both the people living with it and their loved ones. If you’ve just been diagnosed, you might wonder if it’s an autoimmune disease — but it’s not. Muscular dystrophy is a genetic condition, while autoimmune diseases result from a malfunctioning immune system.

This article will explain how muscular dystrophy differs from autoimmune diseases, how the immune system works, and what makes muscular dystrophy a genetic condition — so you can better understand and manage your or your loved one’s condition.

Autoimmune Diseases and the Immune System

Your immune system protects your body from illness by fighting off harmful germs like bacteria and viruses. But sometimes, it gets confused and attacks the body’s own healthy cells. When this happens, it’s called an autoimmune disease.

This mistaken attack on healthy cells and tissues causes inflammation and damage, leading to a wide range of symptoms that affect various parts of the body. Autoimmune diseases can make it hard for your body to work normally, and they can be serious or even life-threatening.

There are over 80 recognized autoimmune diseases, each affecting different body systems. Common examples and the areas targeted by the immune system include:

• Type 1 (insulin-dependent) diabetes — Cells in the pancreas that make insulin, a hormone that controls blood sugar
• Rheumatoid arthritis — The joints, causing pain, swelling, and stiffness
• Systemic lupus erythematosus (SLE) — Multiple parts of the body, including skin, joints, and internal organs
• Multiple sclerosis — The protective coating around nerves, affecting the brain and spinal cord
• Celiac disease — The small intestine, triggered by a reaction to gluten (a protein in wheat)
• Graves’ disease — The thyroid gland, leading to an overproduction of hormones and speeding up body functions
• Hashimoto’s thyroiditis — The thyroid gland, leading to reduced hormone production and slowed body processes

Common Symptoms

Autoimmune diseases can cause many different symptoms, depending on which area of the body is affected. Common symptoms across autoimmune conditions include fatigue (tiredness that doesn’t get better with sleep), joint pain, rashes, and ongoing low-grade fever. Symptoms may come and go, worsening during periods called flare-ups and easing or disappearing during periods called remission.

Potential Causes

The exact causes of autoimmune diseases are still being studied, but researchers believe these conditions may be triggered by a combination of three factors:

• Genes — Having a family history of autoimmune diseases may raise the risk of developing one.
• Environmental triggers — Exposure to certain infections or environmental toxins may cause or worsen autoimmune responses.
• Hormones — Autoimmune diseases tend to be more common in women, according to the journal Evolutionary Applications. Researchers believe hormonal factors may play a role in why these conditions develop.

Muscular Dystrophy and Genetic Changes

Muscular dystrophy is a group of genetic disorders that cause muscle weakness and loss of muscle strength. Unlike autoimmune diseases, in which the body’s defense system mistakenly attacks its own tissues, muscular dystrophy is caused by mutations (changes) in certain genes.

Genes are like instruction manuals inside our cells that tell our bodies how to grow and work. In muscular dystrophy, specific genes that are responsible for maintaining healthy muscles have mutations. These changes prevent the body from making enough of the proteins needed to build, repair, and strengthen muscles. Without these vital proteins, muscle fibers become weak and break down over time, leading to the symptoms seen in muscular dystrophy.

The genetic mutations causing muscular dystrophy can be passed down from one or both parents, depending on the form of muscular dystrophy. For example, the most common form, Duchenne muscular dystrophy (DMD), is often inherited from a mother and passed on to a son through the X chromosome, according to the Muscular Dystrophy Association. (Most females have two X chromosomes and most males have one, though not everyone fits this pattern.) In other cases, a person may be the first in their family to have muscular dystrophy because of a new mutation that happened randomly.

Why Isn’t Muscular Dystrophy an Autoimmune Disease?

In muscular dystrophy, the immune system isn’t the problem. The issue is that muscles don’t work properly because of genetic mutations that affect muscle proteins. Although this muscle damage can lead to inflammation, it happens as a result of weakened muscles, not an immune system attack.

Major Differences Between Autoimmune and Genetic Diseases

Even though autoimmune diseases can run in families, they’re not considered genetic conditions in the same way muscular dystrophy is. Autoimmune diseases and genetic diseases are two separate categories. Key differences include who they affect, how they’re diagnosed, and how they’re treated.

Incidence and People Affected

Because there are so many types, autoimmune conditions are common, affecting an estimated 1 in 10 people in the United States. Autoimmune diseases tend to mostly affect women, particularly during the childbearing years, and are often influenced by hormones and environmental triggers. Some autoimmune diseases also affect specific racial or ethnic groups more frequently. For example, a 2022 Clinical Rheumatology study reported higher rates of SLE among Black, Asian/Pacific Islander, and Hispanic populations.

Muscular dystrophy is considered a rare genetic disorder, affecting 1 in every 5,000 to 10,000 individuals worldwide. Some genetic conditions — such as cystic fibrosis (affects the lungs and digestive system) or sickle cell anemia (a blood disorder in which red blood cells become curved, or sickle-shaped) — are more common in specific populations due to how gene mutations are passed through families, but these diseases are less influenced by external factors like hormones.

Specialists

Managing autoimmune diseases often involves several specialists, depending on which organs or systems are affected:

• Rheumatologists — Treat joint and connective tissue diseases
• Dermatologists — Treat skin-related symptoms and diseases
• Gastroenterologists — Treat conditions affecting the digestive system
• Endocrinologists — Treat hormone-related disorders

For genetic diseases, people are often referred to clinical geneticists or genetic counselors for diagnosis, testing, and guidance. Other specialists may also be part of the care team, depending on the condition. For example, someone with muscular dystrophy may work with a neurologist (a specialist in brain, spinal cord, and nervous system disorders) and rehabilitation specialists (healthcare providers who help people improve strength, mobility, and daily functioning). In contrast, a person with a blood disorder like sickle cell anemia may need to see a hematologist (a doctor who treats blood-related conditions).

Duration

Autoimmune diseases are usually chronic conditions, meaning they last a long time — often for life — with flare-ups and remission periods. While treatments can help manage or even reduce symptoms, there’s often no permanent cure. People with autoimmune diseases may need ongoing medical care, especially if they’re using long-term medications.

Genetic diseases can vary widely in duration. Some genetic disorders are present from birth and continue through life, whereas others may not appear until adulthood. Depending on the condition, symptoms may stay the same or gradually worsen. In muscular dystrophy, the course of the disease depends on the type and severity, with some forms progressing slowly and others more rapidly.

Diagnosis

Diagnosing autoimmune diseases usually involves laboratory tests that look for specific autoantibodies — proteins made by the immune system that mistakenly target healthy cells.

Sometimes no antibodies are found, but doctors may still suspect an autoimmune condition based on symptoms and other findings. Diagnosis typically combines blood tests, medical history, and a physical exam. In some situations, muscle biopsies or imaging scans may be used to check for organ involvement or tissue damage.

For genetic diseases, genetic testing is central to diagnosis. These tests can identify DNA changes that indicate a genetic disorder. In some cases, the tests are used as screenings during pregnancy or in newborns to detect genetic conditions early, sometimes even before symptoms appear.

Treatment

Treatment for autoimmune diseases usually focuses on calming the immune system to reduce inflammation and prevent further tissue damage. This is often done using immunosuppressive medications, such as corticosteroids or biologics (advanced drugs that target specific parts of the immune system).

For genetic diseases, treatment depends on the specific disorder. Some treatments address symptoms, whereas others focus on complications that come with the disorder. In some types of muscular dystrophy, gene therapy may help by introducing a small, working version of a gene that helps the body produce muscle proteins more effectively.

Understanding the differences between autoimmune diseases and genetic disorders is important for supporting individuals affected by muscular dystrophy — and may help you or your loved one better manage the condition. Work closely with your healthcare provider to ensure you get the right diagnosis, build an effective care plan, and receive the most appropriate treatments and support services.

Talk With Others Who Understand

On myMDteam, the online support group for people with muscular dystrophy and their loved ones, people come together to gain a new understanding of muscular dystrophy and share their stories with others who understand life with the condition.

Are you living with muscular dystrophy or the caregiver of someone who has this condition? Have you wondered about the similarities between autoimmune diseases and muscular dystrophy? Share your experiences in the comments below, or start a post on your Activities page.