Myopathy: Causes, Symptoms, Diagnosis & Treatment (2023)


What is myopathy?

Myopathy refers to diseases that affect skeletal muscles (muscles that connect to your bones). These diseases attack muscle fibers, making your muscles weak.

Are there different types of myopathies?

Myopathy can be categorized by its cause. Basically, myopathies are separated into two categories: inherited and acquired.

Inherited myopathies

Inherited myopathies are those that you’re born with, often from inheriting an abnormal gene mutation from a parent that causes the disease. Conditions that are inherited myopathies include:

Congenital myopathies

Symptoms of congenital myopathies usually start at birth or in early childhood, but may not appear until the teen years or even later in adulthood. Congenital myopathies are somewhat unique compared with other inherited myopathies, as weakness typically affects all muscles (not just proximal [closest to the center of your body] ones) and is often not progressive.

Mitochondrial myopathies

Mitochondrial myopathy is caused by a defect in the mitochondria, which are the energy-producing part of cells. These conditions have muscle weakness, but also a variety of other symptoms, as mitochondrial disorders typically affect other organ systems like your heart, brain and gastrointestinal tract. Diseases in this group can be caused by gene mutations with or without a family history.

Metabolic myopathies

Defects in genes that code for enzymes that are needed for normal muscle function and movement cause metabolic myopathies. They often show as exercise intolerance, exertional muscle pains in your shoulders and thighs, or non-traumatic rhabdomyolysis (muscle fiber condition). These can also happen with episodes of weakness that come and go with other times of normal strength.

(Video) Primary mitochondrial myopathy - causes, symptoms, diagnosis, treatment, pathology

Muscular dystrophies

Muscular dystrophies are characterized by progressive degeneration of muscle tissue due to abnormal or insufficient structural support proteins being present. They all involve your arms and/or legs to varying degrees, and some involve the muscles of your eyes or face.

Acquired myopathies

Acquired myopathies develop later in life and can be due to other medical disorders, infections, exposure to certain medications or electrolyte imbalances, among other possibilities. Conditions that are acquired myopathies include:

Autoimmune/inflammatory myopathy

Autoimmune/inflammatory myopathies are diseases in which your body attacks itself, causing problems with muscle function.

Toxic myopathy

Toxic myopathy happens when a toxin or medication interferes with muscle structure or function.

  • Toxins: Alcohol and toluene (a vapor in spray paint and other substances that can be inhaled by people who abuse substances).
  • Medications: Checkpoint inhibitor immunotherapy (pembrolizumab, nivolumab), corticosteroids (prednisone), cholesterol-lowering drugs (statins), amiodarone, colchicine, chloroquine, antivirals and protease inhibitors used in the treatment of HIV infection, omeprazole.

Endocrine myopathies

Endocrine myopathies happen when hormones interfere with muscle function.

  • Thyroid: Low thyroid (hypothyroidism) is more common, but increased thyroid (hyperthyroidism) can also be problematic.
  • Parathyroid: Hyperparathyroidism resulting in increased calcium levels.
  • Adrenal: Addison’s disease and Cushing syndrome.

Infectious myopathies

(Video) Inclusion Body Myopathy- Causes, Symptoms, Diagnosis & Treatment (Pathology)

Infectious myopathies occur as the result of infections that affect muscle function. These include:

  • Viral infections like HIV, influenza, Epstein-Barr.
  • Bacterial pyomyositis.
  • Lyme disease.
  • Parasitic infections like trichinosis, toxoplasmosis, cysticercosis.
  • Fungal infections like Candida, Coccidiomycosis.

Electrolyte imbalance

High or low levels of the following electrolytes can interfere with muscle function:

  • Potassium: Hypokalemia (low), hyperkalemia (high).
  • Magnesium: Hypermagnesemia (high).

Critical illness myopathy

Critical illness myopathy is a disease of your limbs and the muscles that help you breathe (respiratory muscles). It develops while you’re being cared for in an intensive care unit, and may be caused in part by being in bed for a long period of time (prolonged immobility), or by the medications used during your care, such as muscle relaxants, corticosteroids or sedatives.

Symptoms and Causes

Who gets myopathy and how common is it?

Anyone can get a myopathy.

Factors that might increase your risk include:

  • Having a family history of myopathy. This increases the likelihood you might inherit an abnormal gene that causes muscle disease.
  • Being designated male at birth (DMAB). Some myopathies are carried on the X chromosome, and actually affect more men than women. Other inherited forms of myopathy carried on other chromosomes affect all sexes equally.
  • Having an autoimmune, metabolic or endocrine disorder.
  • Being exposed to certain medications or toxins (see toxic myopathy below for a list of some of these medications).

How common myopathies are depends on their type. In acquired myopathies, for example:

  • Inflammatory and endocrine myopathies are more common than other types and are more common in people designated female at birth (DFAB) than those DMAB.
  • The number of people diagnosed with inflammatory myopathy is between 9 and 32 per 100,000.
  • Anywhere from 25% to 79% of adults with hypothyroidism will develop muscle symptoms; though, overt myopathy might be as low as 10%.

The most common inherited myopathies are muscular dystrophies and these are typically more common in men and people DMAB.

(Video) Myopathy: Causes, Symptoms & Treatment | Dr. Padmanabhan R

  • Duchenne’s and Becker’s muscular dystrophies are the most common, with 7 per 100,000 people worldwide.
  • Mitochondrial disorders affect 1 in 5,000 people, and most affect skeletal muscle. Other forms of inherited myopathies are rare.

What are the symptoms of myopathy?

Many myopathies share common symptoms. These common symptoms include:

  • Muscle weakness, most commonly of your upper arms and shoulders and thighs (more common and more severe).
  • Muscle cramps, stiffness and spasms.
  • Fatigue with exertion.
  • Lack of energy.

What does myopathy feel like?

Most myopathies share the common symptom of symmetric muscle weakness (similar on both sides of your body), especially in proximal muscles. Proximal muscles are those closest to the center of your body, such as the muscles in your shoulders, upper arms, hips and thighs. This can lead to the following:

  • Difficulty performing activities of daily living such as bathing, dressing or combing your hair.
  • Trouble getting out of a chair, climbing stairs or performing tasks that require reaching over your head, like changing a ceiling light bulb.
  • Muscle cramps or spasms.
  • Muscle fatigue with activity.
  • Shortness of breath with exertion.

The muscles in your hands or feet aren’t usually affected.

Other symptoms vary depending on the type of myopathy.

  • Muscle weakness can be either non-progressive, or very slowly progressive.
  • In some disorders, muscle weakness is intermittent with other normal periods of strength.
  • Slow development of skills requiring the use of muscles in children (such as walking, hopping, climbing stairs or grasping a spoon or pencil).
  • Children who can’t keep up with their peers during sports or games like tag.
  • Trouble with the muscles that control your swallowing and speech, which can lead to choking and slurring of words.

Diagnosis and Tests

What do I do if I think I have myopathy?

You should first contact your primary care doctor to alert them to the symptoms you’re concerned about. Depending on the nature of your symptoms, you might be referred to a specialist such as a neurologist or a rheumatologist.

How is myopathy diagnosed?

Your healthcare provider will ask about your medical and family history, prescription drug history and your symptoms. Your healthcare provider will conduct a physical exam, which will include an exam of your skin, reflexes, muscle strength, balance, and sensation.

Tests your healthcare provider may order include:

  • Blood tests:
    • Muscle enzymes such as creatine kinase (CK) or aldolase may be elevated in certain myopathies as a result of the breakdown of muscle fibers.
    • Electrolyte levels such as sodium, magnesium, potassium, calcium and phosphorus.
    • Autoimmune disease testing such as antinuclear antibodies (ANA), rheumatoid factor, sedimentation rate and c-reactive protein.
    • Endocrine testing such as thyroid hormone.
  • Electromyography (EMG and nerve conduction studies), including testing the electrical conduction of your nerves and needle examination of your muscles to assess the type and degree of muscle damage.
  • Magnetic resonance imaging (MRI) of your muscles.
  • Genetic tests.
  • Muscle biopsy, in which your healthcare provider surgically removes a small piece of muscle tissue for testing.

Management and Treatment

How is myopathy treated?

After determining your specific type of myopathy, your healthcare provider will develop a treatment plan specific to your symptoms.

(Video) Duchenne & Becker muscular dystrophy - causes, symptoms, treatment & pathology

Most treatments include physical therapy, occupational therapy and some form of exercise. Other treatments are more specific and based on the type of myopathy. In general, most acquired myopathies can be well controlled and treated to minimize weakness and symptoms. Some inherited myopathies have specific treatments that can stop the progression of the disease. At the present time, most inherited myopathies don’t have specific treatments, but people can benefit from physical therapy and certain types of exercise.

Inflammatory and autoimmune-related myopathies

The goal of treatment is to decrease inflammation and your body’s autoimmune response. These myopathies are often treated with:

  • Immunomodulatory/immunosuppressant drugs such as methotrexate, cyclosporine, tacrolimus, azathioprine, mycophenolate, rituximab and intravenous (IVIg) or subcutaneous (SubQIg) immunoglobulin.
  • Corticosteroids such as prednisone or methylprednisolone.

Inherited and genetic myopathies

Most inherited and genetic myopathies don’t have a specific treatment or cure. Management is largely based on symptom control and different forms of therapy. There are multiple ongoing clinical trials in various areas of research looking at treatments and gene therapy.

Duchenne muscular dystrophy and Pompe disease are disorders that can be treated with specific medication.

Other acquired myopathies

Healthcare providers manage acquired myopathies including endocrine, toxic and infectious myopathies by treating the underlying disease causing the myopathy. Toxin-related myopathies are treated by stopping the offending agent (alcohol or toluene, for example) or medication (statins, for example). Muscle symptoms that result from infections caused by bacteria, viruses or other infectious organisms are improved by treating the infection directly with antibiotics.

Living With

How do I take care of myself?

Although myopathy is a long-term (chronic) disease whether inherited or acquired, you can take steps to improve your health to help control your illness. These might include:

  • Eat a healthy, well-balanced diet full of a variety of fruits and vegetables.
  • Stay active with mild cardiovascular exercise. It may be recommended to avoid certain types of weight lifting depending on your myopathy type, and you should discuss this with your doctor prior to starting any exercise routine.
  • Maintain a healthy weight.
  • If you have a dermatomyositis rash, protect your skin from sunlight, which can worsen the rash. Wear full-cover clothing and a hat when able. Be sure to apply sunscreen with a sun-protective factor (SPF) of at least 30 before going outdoors.
  • If you have trouble swallowing, eat soft or semisolid foods. Consider pureeing your food. If you’re bedbound, eat sitting up in bed.
  • Take all medications as prescribed.
  • Participate in your therapies if recommended — physical, occupational or speech.

A note from Cleveland Clinic

Since there are many types of myopathies, your healthcare provider has to put together a treatment approach specific to your myopathy and its symptoms. So, it’s important to closely follow the instructions of your healthcare provider. Also, be aware of your body. Make a note of any changes in your disease and the severity of your symptoms. See your healthcare provider at regularly scheduled intervals (or sooner if you notice changes) so adjustments in your treatment plan can be made early when symptoms arise.


What is the most common cause of myopathy? ›

Inflammatory myopathies can occur when the body's immune system causes inflammation in the muscle. This inflammation can stem from medications or environmental toxins. Infectious myopathies can be caused by viruses, bacteria, or parasites.

What is the best treatment for myopathy? ›

To treat autoimmune myopathies, a doctor may prescribe immunosuppressive drugs, such as glucocorticoids, mycophenolate, rituximab, or intravenous immune globulin. Glucocorticoids are a type of steroid hormone. They work by suppressing many immune pathways responsible for causing inflammation in the body.

How is myopathy diagnosed? ›

Diagnosis of Myopathy

These tests may include: Genetic testing. Genetic testing looks for issues in your genes using a blood or saliva sample. Biochemical genetic testing.

What are two disorders that cause myopathy? ›

What are inflammatory myopathies?
  • Polymyositis, which affects skeletal muscles (the type involved in body movement) on both sides of the body.
  • Dermatomyositis, which causes progressive muscle weakness.

What drugs can cause myopathy? ›

Direct myotoxicity – Examples include alcohol, cocaine, glucocorticoids, lipid-lowering drugs, antimalarials (which are associated with vacuolar myopathies), colchicine (which is associated with vacuolar myopathies), and zidovudine (which causes a mitochondrial myopathy).

What blood test shows myopathy? ›

Creatine Kinase (also known as CK, or Creatine Phosphokinase [CPK]) is an important diagnostic blood test for myopathies. CK is a type of protein called an enzyme that is especially active in skeletal muscle, heart tissue, and the brain.

What organs does myopathy affect? ›

  • Myopathy refers to skeletal and cardiac muscle dysfunction from various inherited, metabolic, inflammatory, infectious, or toxic etiologies.
  • Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement.

Can myopathy be cured or treated? ›

No, there is not a cure for myopathy itself. However, it can be treated to improve symptoms. If myopathy is related to an illness, like a virus or electrolyte imbalance, the muscle symptoms will improve when the underlying condition resolves. Immunosuppressants can help relieve symptoms of certain types of myopathy.

What vitamins help myopathy? ›

So in at-risk individuals it should be kept as one of the differential diagnosis for muscle weakness, as the condition is reversible and easily treated with vitamin D and calcium supplementation.

What kind of doctor treats myopathy? ›

Patients with dermatomyositis, polymyositis, or necrotizing myopathy are usually treated by rheumatologists. Those with dermatomyositis may also work with a dermatologist.

What foods help myopathy? ›

Increase omega-3 fatty acids in your diet by eating salmon, sardines, herring, black cod, omega-3 fortified eggs, hemp and flax seeds, or take a fish oil supplement. Eat more vegetable protein, especially from beans and soy, and choose fish, cheese, and yogurt more often than you choose animal proteins.

What are the 4 types of myopathies? ›

Different Types of Myopathies
  • Muscular Dystrophies. Muscular dystrophies are characterized by a lack of protein called dystrophin. ...
  • Congenital Myopathy. ...
  • Metabolic Myopathy. ...
  • Mitochondrial Myopathy. ...
  • Channelopathies. ...
  • Myotonia Congenita. ...
  • Inflammatory Myopathy. ...
  • Endocrine Myopathy.

What are the 3 main diseases that affect the muscles? ›

Types of neuromuscular disorders include: Amyotrophic lateral sclerosis (ALS) Charcot-Marie-Tooth disease. Multiple sclerosis.

What is myopathy in legs and feet? ›

Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles.

What autoimmune diseases cause myopathy? ›

The major forms of autoimmune myopathies include dermatomyositis (DM), polymyositis (PM), myositis associated with antisynthetase syndrome (ASS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM).

How long can you live with myopathy? ›

For dermatomyositis, polymyositis, and necrotizing myopathy, the progression of the disease is more complicated and harder to predict. More than 95 percent of those with DM, PM, and NM are still alive more than five years after diagnosis.

What virus causes myopathy? ›

Human viruses associated with inflammatory myopathy include coxsackieviruses, influenza A and B viruses, HIV, HTLV-1, hepatitis C virus, and hepatitis B virus. Rare cases have been associated with cytomegalovirus (58), Epstein-Barr virus (98), and West Nile virus (92).

Who is at risk for myopathy? ›

Risk factors significant for myopathy and/or rhabdomyolysis included age, gender, diabetes, renal impairment, cardiovascular disease, certain interacting drugs, and mutations of the SLCO1B1 gene, which encodes a transporter protein in the liver.

Does myopathy affect the brain? ›

Description. Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.

What are other names for myopathy? ›

Other Names for This Condition
  • Myopathies, nemaline.
  • Myopathy, nemaline.
  • Nemaline body disease.
  • Nemaline rod disease.
  • Rod body disease.
  • Rod myopathy.
  • Rod-body myopathy.
Dec 1, 2015

Does myopathy show on MRI? ›

28). Abnormal MRI signal in the musculature is a typical finding in myopathies.

Is myopathy a neurological disorder? ›

Myopathy and myositis are neuromuscular conditions that cause muscle problems, such as stiffness or weakness. Many people with these conditions have not been diagnosed or may have been misdiagnosed with another illness.

What are the symptoms of inflammatory myopathy? ›

People with inflammatory myopathies may have these features:
  • Weakness in the large muscles around the neck, shoulders and hips.
  • Trouble climbing stairs, getting up from a seat, or reaching for objects overhead.
  • Little, if any, pain in the muscles.
  • Choking while eating or aspiration (intake) of food into the lungs.

Does myopathy get worse over time? ›

The symptoms may worsen as you age or lead to other complications, such as respiratory distress and cardiac issues. Inherited myopathies are caused by genes and include: Muscular Dystrophies.

Does myopathy affect the heart? ›

Myopathies are frequently not confined to the skeletal muscles but also involve other organs or tissues. One of the most frequently affected organ in addition to the skeletal muscle is the heart (cardiac involvement, CI).

What age group is affected by myopathy? ›

Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age. The primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years.

Does exercise help myopathy? ›

Exercise programmes to improve muscle strength, endurance and cardiovascular fitness have an important role in the overall management of patients with myopathy.

How does myopathy affect daily living? ›

Individuals with myopathy often have difficulty performing activities of daily living (like dressing and bathing). Muscle pain and tenderness are rare. Specific symptoms differ according to the type of myopathy involved. In addition to muscle weakness, many patients experience cramps and fatigue with exertion.

Do neurologists treat myopathy? ›

Myopathy is Treated by Mercy's Expert Neurologists. The Neurology Center at Mercy in Baltimore offers diagnosis and treatment of neurological disorders, such as myopathy. Our neurologists use a variety of tests to diagnose neurological symptoms and conditions.

Can low vitamin D cause myopathy? ›

Myopathy, due to chronic vitamin D deficiency, probably contributes to immobility and ill health in a significant number of patients in the northern United States. An awareness of this condition may significantly improve mobility and quality of life in patient populations vulnerable to vitamin D deficiency.

What vitamin restores muscle? ›

Additionally, one 2016 study found that the rebuilding and repairing of muscles requires vitamin B12 as as cofactor, alongside folate. Vitamin B12 also assists the body in metabolisng protein, which makes it a great supplement to take alongside your protein shake.

What is the best vitamin for muscles? ›

Vitamin B6, folate and B12 are arguably the most important B vitamins when it comes to muscle growth and recovery! Both vitamins B6 and B12 have a direct role in protein metabolism.

What does myopathy do to the body? ›

Myopathy is a general term referring to any disease that affects the muscles that control voluntary movement in the body. Patients experience muscle weakness due to a dysfunction of the muscle fibers. Some myopathies are genetic and can be passed from parent to child.

What are the complications of myopathy? ›

The complications of the various types of myopathies are largely attributed to the progression of the disease. Congenital, metabolic and hereditary myopathies could have fatal complications like cardiomyopathies, recurrent infections, and sepsis, neuropathies, respiratory failure, or renal failures.

How long does it take to recover from myopathy? ›

Prognosis. Corticosteroid-induced myopathy is reversible, with improvement in myopathy within 3 to 4 weeks of tapering corticosteroids, although recovery can take months to a year. Complications of corticosteroid-induced myopathy include the morbidity and subsequent mortality associated with chronic muscle weakness.

What foods heal muscle tissue? ›

The 10 Best Muscle Recovery Foods and Drinks
  • Tart cherry juice. Drinking tart cherry juice may benefit both trained athletes and novice gym-goers alike. ...
  • Watermelon and watermelon juice. Watermelon is sweet, hydrating, and loaded with nutrients. ...
  • Fatty fish. ...
  • Pomegranate juice. ...
  • Beet juice. ...
  • Whey protein shakes. ...
  • Eggs. ...
  • Dairy.
Aug 19, 2021

Does walking help myositis? ›

Physical exercise has been shown to reduce inflammation, reduce fatigue, increase stamina, and build muscle, even in patients with myositis.

What are the symptoms of autoimmune myopathy? ›

Necrotizing autoimmune myopathy (an inflammatory myopathy) causes weakness around areas in the upper and lower body. People who have this disorder often experience dizziness, fatigue and muscle pain when climbing stairs or standing up quickly.

What blood test for muscle weakness? ›

Doctors use a blood test to look for elevated levels of a substance called creatine kinase, which is released into the bloodstream when muscle fibers deteriorate. Elevated levels may mean you have an inflammatory myopathy.

What is the most common pattern of muscle weakness in myopathies? ›

The most common pattern of muscle weakness in myopathies is symmetric weakness affecting predominantly the proximal muscles of the legs and arms, or the so-called “limb-girdle” distribution.

How do you get myopathy? ›

There are many causes of myopathy, including those due to inflammation in the muscles themselves (polymyositis, dermatomyositis and inclusion body myositis). Myopathies can also be caused by various medical diseases and even by certain drugs, such as those that are used to control elevated blood cholesterol.

What deficiency causes weakness in legs? ›

Muscle weakness due to vitamin D deficiency is predominantly of the proximal muscle groups and is manifested by a feeling of heaviness in the legs, tiring easily, and difficulty in mounting stairs and rising from a chair; the deficiency is reversible with supplementation (15–18).

What autoimmune disease affects your muscles? ›

What is myasthenia gravis? Myasthenia gravis is a chronic autoimmune, neuromuscular disease that causes weakness in the skeletal muscles (the muscles that connect to your bones and contract to allow body movement in the arms and legs, and allow for breathing).

What blood test shows muscle damage? ›

Repeated blood tests for the muscle protein creatine kinase (CK or creatine phosphokinase [CPK]) are the only accurate test for rhabdo. A healthcare provider can do a blood test for CK: The muscle protein CK enters the bloodstream when muscle tissue is damaged. When rhabdo is present, CK levels will rise.

Is myopathy is fatal? ›

Some myopathies are resistant to treatment, while others are more treatable. Myopathy can be inherited (such as the familiar muscular dystrophies) or acquired (such as common muscle cramps). In severe cases the muscle weakness can lead to respiratory failure and death.


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