Muscular Dystrophy

Defined

Muscular dystrophy is a group of inherited diseases that damage and weaken your muscles over time. This damage and weakness is due to the lack of a protein called dystrophin, which is necessary for normal muscle function. The absence of this protein can cause problems with walking, swallowing, and muscle coordination.

Muscular dystrophy can occur at any age, but most diagnoses occur in childhood. Young boys are more likely to have this disease than girls.

 

The prognosis for muscular dystrophy depends on the type and the severity of symptoms. However, most individuals with muscular dystrophy do lose the ability to walk and eventually require a wheelchair. There’s no known cure for muscular dystrophy, but certain treatments may help.

 

What are the symptoms of muscular dystrophy?

There are more than 30 different types of muscular dystrophy, which vary in symptoms and severity. There are nine different categories used for diagnosis.

Duchenne muscular dystrophy

 

This type of muscular dystrophy is the most common among children. The majority of individuals affected are boys. It’s rare for girls to develop it. The symptoms include:

  • trouble walking

  • loss of reflexes

  • difficulty standing up

  • poor posture

  • bone thinning

  • scoliosis, which is an abnormal curvature of your spine

  • mild intellectual impairment

  • breathing difficulties

  • swallowing problems

  • lung and heart weakness

 

People with Duchenne muscular dystrophy typically require a wheelchair before their teenage years. The life expectancy for those with this disease is late teens or 20s.

 

Becker muscular dystrophy

Becker muscular dystrophy is similar to Duchenne muscular dystrophy, but it’s less severe. This type of muscular dystrophy also more commonly affects boys. Muscle weakness occurs mostly in your arms and legs, with symptoms appearing between age 11 and 25.

 

Other symptoms of Becker muscular dystrophy include:

  • walking on your toes

  • frequent falls

  • muscle cramps

  • trouble getting up from the floor

 

Many with this disease don’t need a wheelchair until they’re in their mid-30s or older, and a small percentage of people with this disease never require one. Most people with Becker muscular dystrophy live until middle age or later.

 

Congenital muscular dystrophy

Congenital muscular dystrophies are often apparent between birth and age 2. This is when parents begin to notice that their child’s motor functions and muscle control aren’t developing as they should. Symptoms vary and may include:

  • muscle weakness

  • poor motor control

  • inability to sit or stand without support

  • scoliosis

  • foot deformities

  • trouble swallowing

  • respiratory problems

  • vision problems

  • speech problems

  • intellectual impairment

 

While symptoms vary from mild to severe, the majority of people with congenital muscular dystrophy are unable to sit or stand without help. The lifespan of someone with this type also varies, depending on the symptoms. Some people with congenital muscular dystrophy die in infancy while others live until adulthood.

 

Myotonic dystrophy

Myotonic dystrophy is also called Steinert’s disease or dystrophia myotonica. This form of muscular dystrophy causes myotonia, which is an inability to relax your muscles after they contract. Myotonia is exclusive to this type of muscular dystrophy.

 

Myotonic dystrophy can affect your:

  • facial muscles

  • central nervous system

  • adrenal glands

  • heart

  • thyroid

  • eyes

  • gastrointestinal tract

 

Symptoms most often appear first in your face and neck. They include:

  • drooping muscles in your face, producing a thin, haggard look

  • difficulty lifting your neck due to weak neck muscles

  • difficulty swallowing

  • droopy eyelids, or ptosis

  • early baldness in the front area of your scalp

  • poor vision, including cataracts

  • weight loss

  • increased sweating

 

This dystrophy type may also cause impotence and testicular atrophy in males. In women, it may cause irregular periods and infertility.

Myotonic dystrophy diagnoses are most common in adults in their 20s and 30s. The severity of symptoms can vary greatly. Some people experience mild symptoms, while others have potentially life-threatening symptoms involving the heart and lungs.

 

Facioscapulohumeral (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is also known as Landouzy-Dejerine disease. This type of muscular dystrophy affects the muscles in your face, shoulders, and upper arms. FSHD may cause:

  • difficulty chewing or swallowing

  • slanted shoulders

  • a crooked appearance of the mouth

  • a wing-like appearance of the shoulder blades

 

A smaller number of people with FSHD may develop hearing and respiratory problems.

 

FSHD tends to progress slowly. Symptoms usually appear during your teenage years, but they sometimes don’t appear until your 40s. Most people with this condition live a full life span.

 

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy causes weakening of the muscles and a loss of muscle bulk. This type of muscular dystrophy usually begins in your shoulders and hips, but it may also occur in your legs and neck. You may find it hard to get up out of a chair, walk up and down stairs, and carry heavy items if you have limb-girdle muscular dystrophy. You may also stumble and fall more easily.

Limb-girdle muscular dystrophy affects both males and females. Most people with this form of muscular dystrophy are disabled by age 20. However, many have a normal life expectancy.

 

Oculopharyngeal muscular dystrophy (OPMD)

Oculopharyngeal muscular dystrophy causes weakness in your facial, neck, and shoulder muscles. Other symptoms include:

  • drooping eyelids

  • trouble swallowing

  • voice changes

  • vision problems

  • heart problems

  • difficulty walking

 

OPMD occurs in both men and women. Individuals usually receive diagnoses in their 40s or 50s.

 

Distal muscular dystrophy

Distal muscular dystrophy is also called distal myopathy. It affects the muscles in your:

  • forearms

  • hands

  • calves

  • feet

 

It may also affect your respiratory system and heart muscles. The symptoms tend to progress slowly and include a loss of fine motor skills and difficulty walking. Most people, both male and female, are diagnosed with distal muscular dystrophy between the ages of 40 and 60.

 

Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy tends to affect more boys than girls. This type of muscular dystrophy usually begins in childhood. The symptoms include:

  • weakness in your upper arm and lower leg muscles

  • breathing problems

  • heart problems

  • shortening of the muscles in your spine, neck, ankles, knees, and elbows

 

Most individuals with Emery-Dreifuss muscular dystrophy die in mid-adulthood from heart or lung failure.

 

https://www.healthline.com/health/muscular-dystrophy#symptoms

Diagnosis

The first step in diagnosing MD is a visit with a healthcare provider for a physical exam. He or she will ask a series of questions about the person’s family history, including any family members with MD, and medical history, such as muscle problems the person may be experiencing.

 

Different tests can help healthcare providers diagnose MD and determine which type of MD is present. The tests also may rule out other problems that could cause muscle weakness, such as injury, toxic exposure, medications, or other muscle diseases. These tests may include:1

  • Blood tests to measure levels of certain substances that may be high in someone with MD. Elevated levels of these substances can signal muscle weakness, injury, and disease and point to a need for additional testing. Some of these may include:

    • Serum creatine kinase, an enzyme released into the bloodstream when muscle fibers are damaged

    • Serum aldolase, an enzyme that helps break down sugars into energy

    • Myoglobin, a protein that carries and stores oxygen in muscles

  • Muscle biopsies, which involve the removal of a small piece of muscle tissue using a needle or small incision. Providers examine the tissue under a microscope to check for hallmarks of MD. Patients diagnosed by muscle biopsy usually need genetic testing as well to confirm mutations in their genes.2

  • Genetic testing to look for genes known either to cause or be associated with inherited muscle disease. DNA analysis and enzyme assays can confirm the diagnosis of certain neuromuscular diseases, including MD.

  • Neurological tests to rule out other nervous system disorders, identify patterns of muscle weakness and wasting, test reflexes and coordination, and detect contractions.

  • Heart testing, such as an electrocardiogram (ECG), to measure the rate and frequency of heartbeats, or echocardiogram (Echo), to measure the force of heartbeats and look at the structure of the heart. Some forms of MD cause heart problems such as an irregular heartbeat.3

  • Exercise assessments to measure the patient’s muscle strength and breathing and detect any increased rates of certain markers following exercise.

  • Imaging tests such as magnetic resonance imaging (MRI) and ultrasound imaging, which use radio waves/magnetic fields and sound waves, respectively, to take pictures of the inside of the body, examine muscle quality and bulk, and measure fatty replacement of muscle tissue.

 

https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/diagnosed

Treatment

Although there's no cure for any form of muscular dystrophy, treatment for some forms of the disease can help extend the time a person with the disease can remain mobile and help with heart and lung muscle strength. Trials of new therapies are ongoing.

 

People with muscular dystrophy should be monitored throughout their lives. Their care team should include a neurologist with expertise in neuromuscular diseases, a physical medicine and rehabilitation specialist, and physical and occupational therapists.

 

Some people might also need a lung specialist (pulmonologist), a heart specialist (cardiologist, a sleep specialist, a specialist in the endocrine system (endocrinologist), an orthopedic surgeon and other specialists.

Treatment options include medications, physical and occupational therapy, and surgical and other procedures. Ongoing assessments of walking, swallowing, breathing and hand function enable the treatment team to adjust treatments as the disease progresses.

 

Medications

Your doctor might recommend:

  • Corticosteroids, such as prednisone and deflazacort (Emflaza), which can help muscle strength and delay the progression of certain types of muscular dystrophy. But prolonged use of these types of drugs can cause weight gain and weakened bones, increasing fracture risk.

  • Newer drugs include eteplirsen (Exondys 51), the first medication to be approved by the Food and Drug Administration (FDA) specifically to treat some people with Duchenne muscular dystrophy. It was conditionally approved in 2016.

 

In 2019, the FDA approved golodirsen (Vyondys 53) for treatment of some people with Duchenne dystrophy who have a certain genetic mutation.

  • Heart medications, such as angiotensin-converting enzyme (ACE) inhibitors or beta blockers, if muscular dystrophy damages the heart.

 

Therapy

Several types of therapy and assistive devices can improve the quality and sometimes the length of life in people who have muscular dystrophy. Examples include:

  • Range-of-motion and stretching exercises. Muscular dystrophy can restrict the flexibility and mobility of joints. Limbs often draw inward and become fixed in that position. Range-of-motion exercises can help to keep joints as flexible as possible.

  • Exercise. Low-impact aerobic exercise, such as walking and swimming, can help maintain strength, mobility and general health. Some types of strengthening exercises also might be helpful. But it's important to talk to your doctor first because some types of exercise might be harmful.

  • Braces. Braces can help keep muscles and tendons stretched and flexible, slowing the progression of contractures. Braces can also aid mobility and function by providing support for weakened muscles.

  • Mobility aids. Canes, walkers and wheelchairs can help maintain mobility and independence.

  • Breathing assistance. As respiratory muscles weaken, a sleep apnea device might help improve oxygen delivery during the night. Some people with severe muscular dystrophy need to use a machine that forces air in and out of their lungs (ventilator).

 

Surgery

Surgery might be needed to correct contractures or a spinal curvature that could eventually make breathing more difficult. Heart function may be improved with a pacemaker or other cardiac device.

Preventing respiratory infections

 

Respiratory infections can become a problem in muscular dystrophy. So, it's important to be vaccinated for pneumonia and to keep up to date with influenza shots. Try to avoid contact with children or adults who have an obvious infection.

 

https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/diagnosis-treatment/drc-20375394

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