Muscular dystrophy is a group of over 30 conditions that lead to muscle weakness and degeneration. As the condition progresses, it becomes harder to move. In some cases, it can affect breathing and heart function, leading to life-threatening complications.

Depending on the type and severity, the effects can be mild, progressing slowly over a normal lifespan, there may be moderate disability, or it can be fatal.

There is currently no way to prevent or reverse muscular dystrophy, but different kinds of therapy and drug treatment can improve a person’s quality of life and delay the progression of symptoms.

Symptoms

[Muscle anatomy illustration] — Muscular dystrophy causes the gradual weakening of skeletal muscle.

Below are the symptoms of Duchenne muscular dystrophy, the most common form of the disease.

The symptoms of Becker muscular dystrophy are similar but tend start in the mid-twenties or later, are milder, and progress more slowly.

Early symptoms include:

a waddling gait

pain and stiffness in the muscles

difficulty with running and jumping

walking on toes

difficulty sitting up or standing

learning disabilities, such as developing speech later than usual

frequent falls

As time goes on, the following become more likely:

inability to walk

a shortening of muscles and tendons, further limiting movement

breathing problems can become so severe that assisted breathing is necessary

curvature of the spine can be caused if muscles are not strong enough to support its structure

the muscles of the heart can be weakened, leading to cardiac problems

difficulty swallowing, with a risk of aspiration pneumonia. A feeding tube is sometimes necessary.

All about muscular dystrophy

Medically reviewed by University of Illinois on December 18, 2017 — Written by Tim Newman

Muscular dystrophy refers a group of disorders that involve a progressive loss of muscle mass and consequent loss of strength.

The main forms of muscular dystrophy may affect up to 1 in every 5,000 males.

The most common form is Duchenne muscular dystrophy. It typically affects young boys, but other variations can strike in adulthood.

Muscular dystrophy is caused by genetic mutations that interfere with the production of muscle proteins that are needed to build and maintain healthy muscles.

The causes are genetic. A family history of muscular dystrophy will increase the chance of it affecting an individual.

There is currently no cure, but certain physical and medical treatments can improve symptoms and slow the progression.

What is muscular dystrophy?

Depending on the type and severity, the effects can be mild, progressing slowly over a normal lifespan, there may be moderate disability, or it can be fatal.

There is currently no way to prevent or reverse muscular dystrophy, but different kinds of therapy and drug treatment can improve a person’s quality of life and delay the progression of symptoms.

Symptoms

Below are the symptoms of Duchenne muscular dystrophy, the most common form of the disease.

The symptoms of Becker muscular dystrophy are similar but tend start in the mid-twenties or later, are milder, and progress more slowly.

Early symptoms include:

a waddling gait
pain and stiffness in the muscles
difficulty with running and jumping
walking on toes
difficulty sitting up or standing
learning disabilities, such as developing speech later than usual
frequent falls

As time goes on, the following become more likely:

inability to walk
a shortening of muscles and tendons, further limiting movement
breathing problems can become so severe that assisted breathing is necessary
curvature of the spine can be caused if muscles are not strong enough to support its structure
the muscles of the heart can be weakened, leading to cardiac problems
difficulty swallowing, with a risk of aspiration pneumonia. A feeding tube is sometimes necessary.

Treatment

Currently, there is no cure for muscular dystrophy. Medications and various therapies help slow the progression of the disease and keep the patient mobile for the longest possible time.

Drugs

The two most commonly prescribed drugs for muscular dystrophy are:

Corticosteroids: This type of medication can help increase muscle strength and slow progression, but long-term use can weaken bones and increase weight gain.
Heart medications: If the condition impacts the heart, beta blockers and angiotensin-converting enzyme (ACE) inhibitors may help.

Physical therapy

General exercises: A range of motion and stretching exercises can help combat the inevitable inward movement of the limbs as muscles and tendons shorten. Limbs tend to become fixed in position, and these types of activities can help keep them mobile for longer. Standard low-impact aerobic exercises such as walking and swimming can also help slow the disease’s progression.
Breathing assistance: As the muscles used for breathing become weaker, it may be necessary to use devices to help improve oxygen delivery through the night. In the most severe cases, a patient may need to use a ventilator to breathe on their behalf.
Mobility aids: Canes, wheelchairs, and walkers can help the person stay mobile.
Braces: These keep muscles and tendons stretched and help slow their shortening. They also give added support to the user when moving.

Types

There are different types of muscular dystrophy, including the following:

Duchenne muscular dystrophy: The most common form of the illness. Symptoms normally start before a child’s third birthday; they are generally wheelchair-bound by 12 years and die of respiratory failure by their early-to-mid-twenties.
Becker muscular dystrophy: Similar symptoms to Duchenne but with a later onset and slower progression; death usually occurs in the mid-forties.
Myotonic (Steinert’s disease): The myotonic form is the most common adult-onset form. It is characterized by an inability to relax a muscle once it has contracted. The muscles of the face and neck are often affected first. Symptoms also include cataracts, sleepiness, and arrhythmia.
Congenital: This type can be obvious from birth or before the age of 2 years. It affects girls and boys. Some forms progress slowly whereas others can move swiftly and cause significant impairment.
Facioscapulohumeral (FSHD): Onset can be at almost any age but is most commonly seen during teenage years. The muscular weakness often begins in the face and shoulders. People with FSHD may sleep with their eyes slightly open and have trouble fully closing their eyelids. When an individual with FSHD raises their arms, their shoulder blades protrude like wings.
Limb-girdle: This variant begins in childhood or teenage years and first effects the shoulder and hip muscles. Individuals with the limb-girdle muscular dystrophy might have trouble raising the front part of the foot, making tripping a common problem.
Oculopharyngeal muscular dystrophy: Onset is between the ages of 40 and 70 years. Eyelids, throat, and face are first affected, followed by the shoulder and pelvis.

Causes

Muscular dystrophy is caused by mutations on the X chromosome. Each version of muscular dystrophy is due to a different set of mutations, but all prevent the body from producing dystrophin. Dystrophin is a protein essential for building and repairing muscles.

Duchenne muscular dystrophy is caused by specific mutations in the gene that encodes the cytoskeletal protein dystrophin. Dystrophin makes up just 0.002 percent of the total proteins in striated muscle, but it is an essential molecule for the general functioning of muscles.

Dystrophin is part of an incredibly complex group of proteins that allow muscles to work correctly. The protein helps anchor various components within muscle cells together and links them all to the sarcolemma – the outer membrane.

If dystrophin is absent or deformed, this process does not work correctly, and disruptions occur in the outer membrane. This weakens the muscles and can also actively damage the muscle cells themselves.

In Duchenne muscular dystrophy, dystrophin is almost totally absent; the less dystrophin that is produced, the worse the symptoms and etiology of the disease. In Becker muscular dystrophy, there is a reduction in the amount or size of the dystrophin protein.

The gene coding for dystrophin is the largest known gene in humans. More than 1,000 mutations in this gene have been identified in Duchenne and Becker muscular dystrophy

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