Depending on the type of muscular dystrophy you have and age at which you were diagnosed, initial symptoms may include:
- Muscle weakness
- Difficulty walking
- Frequent falls
- Limited movement due to shortening of the muscles and tendons (contracture)
- Difficulty breathing or swallowing
- Heart problems
- Muscle stiffness or pain
Muscular dystrophy with an earlier onset is linked to developmental delays and intellectual disabilities.
What is muscular dystrophy?
Muscular dystrophy is a group of more than 30 genetic diseases that cause weakness and loss of muscle mass. The condition is progressive, meaning it gradually worsens over time.
Muscular dystrophy is caused by mutations in the genes that are responsible for the production of proteins that protect muscle fibers and ensure that they function properly. Mutations can cause defects that can hinder function and cause increasing disability in the long run.
What are different types of muscular dystrophy?
Symptoms vary depending on the type of muscular dystrophy and muscles involved:
- Duchenne muscular dystrophy: Most common and severe type of muscular dystrophy that typically affects boys in early childhood. Symptoms could include frequent falls, difficulty standing from a lying or sitting position, and difficulty running or jumping, and walking on the toes.
- Becker muscular dystrophy: Caused by a similar gene mutation to Duchenne muscular dystrophy but characterized by milder symptoms. It affects men more than women and presents between ages 11-25.
- Myotonic dystrophy: Can develop at any age although it is more common between ages 20-30. Symptoms include inability to relax muscles following contractions, as well as long, thin facial structures, drooping eyelids, and swan-like necks.
- Facioscapulohumeral muscular dystrophy: Typically presents in teenage years although it can occur in childhood or adulthood. It advances gradually and is usually not serious. Muscle weakness commonly starts in the face, hip, and shoulders. Shoulder blades may stick out like wings when the arms are raised.
- Limb-girdle muscular dystrophy: Generally occurs in adolescence or early adulthood. It can advance rapidly or progress gradually. Individuals with this type of muscular dystrophy may experience difficulty lifting the front part of their foot and thus fall frequently.
- Oculopharyngeal muscular dystrophy: Usually develops after age 40. It generally does not have an impact on life expectancy. It first affects the eyes and throat and can then go on to affect the shoulders, upper legs, and hips.
- Congenital muscular dystrophy: Affects both girls and boys equally and is noticeable at birth before age 2. Some cases progress gradually and cause mild disability, whereas others progress quickly and cause extreme weakness.
- Emery-Dreifuss muscular dystrophy: Develops in childhood or early adulthood. Symptoms may include weakness in the arms, legs, joints, and heart.
How is muscular dystrophy diagnosed?
Your primary care physician will talk to you about your medical history and perform a physical examination. To confirm a diagnosis of muscular dystrophy, they may order certain tests that include:
- Blood tests
- Muscle biopsy
- Enzyme tests
- Genetic tests
How is muscular dystrophy treated?
There is no cure for muscular dystrophy. However, medications and physical rehabilitation can assist with physical disabilities and other problems:
- Medication: Steroids to further develop muscle strength or angiotensin-converting enzyme inhibitors and beta-blockers to treat heart issues
- Surgery: To address problems such as scoliosis and contractures
- Mobility assistance: Includes exercises, physiotherapy, and assistive devices
- Support groups: To help manage the practical and emotional effects of the disease
Top What Are the First Signs of Muscular Dystrophy Related Articles
atalurenAtaluren is an investigational drug used to delay disease progression in ambulatory patients with Duchenne muscular dystrophy (DMD), a progressive and fatal neuromuscular disease. The medication is not yet approved by the FDA and is not available in the U.S. Common side effects of ataluren include headache, nausea, vomiting, diarrhea, upper abdominal pain, gas (flatulence), abdominal discomfort, constipation, decrease in appetite, increase in cholesterol and triglyceride levels in blood, fever (pyrexia), ear infection, red rash (erythematous rash), feeling unwell (malaise), weight loss, high blood pressure (hypertension), and others.
coenzyme Q10Coenzyme Q10 is a nutrient and dietary supplement used to reduce symptoms and improve outcomes in many cardiovascular conditions including congestive heart failure, heart attack (myocardial infarction), chest pain (angina) and high blood pressure (hypertension), and many other conditions such as mitochondrial diseases, muscular dystrophies and statin-induced muscle pain (myalgia). Side effects of coenzyme Q10 include nausea, vomiting, diarrhea, heartburn, abdominal discomfort, reduced appetite, allergic skin rashes, elevated liver function test results, and lowering of blood pressure. Do not take if breastfeeding.
Down SyndromeGet the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down syndrome signs and symptoms include distinctive facial features, growth retardation, and decreased mental function and IQ. Blood tests and ultrasound may be used to screen for Down syndrome but chromosome analysis of the fetus is needed to diagnose the condition. People with Down syndrome age more quickly and may develop Alzheimer's disease as young as age 40. Sometimes people are diagnosed with mosaic Down syndrome, in which case they have more than one type of chromosomal makeup.
Healthy Aging: Causes of Muscle WeaknessFrom aging to illness, many things can cause your muscles to get weaker. Learn about the causes and what you can do to make it better.
How Long Can you Live With Muscular Dystrophy?What is muscular dystrophy? Learn the signs of muscular dystrophy, what causes it, how doctors diagnose it, and how to treat it.
How Many Types of Muscular Dystrophy Are There?Muscular dystrophy is a genetic disease that weakens and wastes away skeletal muscle. There are 30 different types of muscular dystrophy that fall into nine major categories. Learn what the symptoms of muscular dystrophy are, how you get muscular dystrophy, and what treatments there are for muscular dystrophy.
Muscular Dystrophy Types & Causes of Each FormMuscular dystrophies are a group of genetic diseases causing progressive weakness and loss of muscle mass. There are more than 30 types of muscular dystrophy that result in muscle weakness. Over time, the muscles get weaker, disturbing the gait (a person’s manner of walking) and the ability to perform daily activities.
What Is Muscular Dystrophy?There are more than 30 types of muscular dystrophy that cause progressive muscle weakness, including Duchenne Becker (DMD), Becker (BMD), and more. Muscular dystrophy symptoms also include scoliosis (sideways curved spine), difficulty in walking or running, dysphagia (difficulty swallowing), muscle pain, breathing problems, and others.
omaveloxoloneOmaveloxolone is an oral medication used in the treatment of Friedreich’s ataxia, an inherited, genetic, neurodegenerative disorder that affects parts of the nervous system. Common side effects of omaveloxolone include elevated liver enzymes ALT and AST, headache, nausea, vomiting, abdominal pain, diarrhea, reduced appetite, fatigue, musculoskeletal pain, mouth and throat (oropharyngeal) pain, muscle spasms, and others.
Pain Management: Signs Your Muscle Pain Is Something ElseCould your achy muscles be a sign of more than a tough workout? Learn when a twinge might warrant a visit to the doctor's office.
What Are Muscle Biopsy and Clinical and Laboratory Features of Neuromuscular Disease?When a clinical diagnosis of a neuromuscular disorder (Parkinson’s disease, Huntington’s disease, multiple sclerosis, etc.) is considered, a muscle biopsy is often required for definitive diagnosis. A muscle biopsy is sometimes indicated for diagnosing various systemic disorders that also present with skeletal muscle tissue pathology. The surgical procedure to obtain a muscle biopsy is relatively simple and poses little risk to the patient. Uncommon complications are infection and a possibility of infection after the procedure.
What Are the Stages of Muscular Dystrophy?Muscular dystrophy causes progressive muscle weakness, and each stage causes different symptoms that will affect your child’s development.
What Are the Symptoms of Myopathy?The most common symptoms of myopathy are weakness and impaired daily functions or activities, as well as muscle pain and tenderness. General signs and symptoms of myopathy include symmetric proximal muscle weakness, fatigue and malaise, motor delay, bulbar muscle dystrophy (dysfunction of the swallowing and speech muscles), myoglobinuria (dark-colored urine) and/or fever, no paresthesia (sensory impairments), atrophy and hyporeflexia, consciousness at normal levels, and Gottron papules (dermatomyositis) over the knuckles, elbows, and knees.
What Is an X Mutation?X-linked refers to any ailment that has an X chromosomal connection. Mammals normally have two copies of the X chromosome in females and one in males, which is referred to as a sex chromosome. Compared to the Y chromosome, which has only about 70 protein-coding genes, the X chromosome in humans contains about 800 protein-coding genes. The genes located in the X chromosome are referred to as X-linked genes.
What Is the Best Treatment for Muscular Dystrophy?Learn what medical treatments can help with your muscular dystrophy symptoms and speed up your recovery.
When Should I Worry About My Child’s Development?Learn the different types of delayed development and find out about the different warning signs of developmental delays.