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Symptoms
By Mayo Clinic staff

Signs and symptoms vary according to the type of muscular dystrophy. In general, muscular dystrophy symptoms may include:

* Muscle weakness
* Apparent lack of coordination
* Progressive crippling, resulting in fixations (contractures) of the muscles around your joints and loss of mobility

Specific signs and symptoms vary among the different forms of MD. Each type is different in the age of onset, which parts of the body the symptoms primarily affect and how rapidly the disease progresses.

Dystrophinopathies
These types of muscular dystrophies are due to a genetic defect of the protein dystrophin.

Duchenne's muscular dystrophy is the most severe form of dystrophinopathy. It occurs mostly in young boys and is the most common form of MD that affects children. Signs and symptoms of Duchenne's MD may include:

* Frequent falls
* Large calf muscles
* Difficulty getting up from a lying or sitting position
* Weakness in lower leg muscles, resulting in difficulty running and jumping
* Waddling gait
* Mild mental retardation, in some cases

Signs and symptoms of Duchenne's usually appear between the ages of 2 and 3. It first affects the muscles of the pelvis, upper arms and upper legs. By late childhood, most children with this form of muscular dystrophy are unable to walk. Most die by their 20s or early 30s, often from pneumonia, respiratory muscle weakness or cardiac complications. Some people with Duchenne's MD may exhibit curvature of their spine (scoliosis).

Becker's muscular dystrophy is a milder form of dystrophinopathy. It generally affects older boys and young men, and progresses more slowly, usually over several decades. Signs and symptoms of Becker's MD are similar to those of Duchenne's. The onset of the signs and symptoms is generally around age 11, but may not occur until the mid-20s or even later. Those affected by Becker's MD usually are able to walk through their teens, and often well into adulthood.

Myotonic dystrophy
Also known as Steinert's disease, this form of muscular dystrophy produces stiffness of muscles and an inability to relax muscles at will (myotonia), as well as the muscle weakness of the other forms of muscular dystrophy.

Although this form of MD can affect children, it often doesn't affect people until adulthood. It can vary greatly in its severity. Muscles may feel stiff after using them. Progression of this form of MD is slow. Besides myotonia, signs and symptoms of adult-onset myotonic dystrophy may include:

* Weakening of voluntary muscles that control your arms and legs, usually beginning with the limb muscles farthest from the torso — the muscles of the feet, hands, lower legs and forearms.
* Weakening of head, neck and face muscles, which may result in the face having a hollow, drooped appearance.
* Weakening of muscles involved in breathing and swallowing. Weaker breathing muscles may result in less oxygen intake and fatigue. Weaker swallowing muscles increase the risk of choking.
* Fainting or dizziness, which may indicate that the disease is interfering with the conduction of electrical signals that keep the heart rate normal.
* Weakening of muscles of hollow internal organs such as those in the digestive tract and the uterus. Depending on which part of the digestive tract is affected, you may experience problems with swallowing as well as constipation and diarrhea. Weakness of the uterine walls may cause problems during childbirth.
* Difficulty sleeping well at night and daytime sleepiness, and inability to concentrate because of the effect of the disease on the brain.
* Frontal balding in men.
* Clouding of the lenses of the eyes (cataracts).
* Mild diabetes.

Rarely, infants have this form of muscular dystrophy, in which case it's called congenital myotonic dystrophy. The infant form is more severe, although infants with myotonic dystrophy don't experience myotonia. Signs in infants may include:

* Severe muscle weakness
* Difficulty sucking and swallowing
* Difficulty breathing
* Cognitive impairment

Facioscapulohumeral muscular dystrophy
Also known as Landouzy-Dejerine dystrophy, this form involves progressive muscle weakness involving:

* Face
* Shoulders
* Abdomen
* Feet
* Upper arms
* Pelvic area
* Lower arms

When someone with facioscapulohumeral MD raises his or her arms, the shoulder blades may stick out like wings. Progression of this form is slow, with some spurts of rapidly increasing weakness. Onset usually occurs during the teen to early adult years.

Other major types of muscular dystrophy
The other major types of muscular dystrophy include:

* Limb-girdle muscular dystrophy
* Congenital muscular dystrophy
* Oculopharyngeal muscular dystrophy
* Distal muscular dystrophy
* Emery-Dreifuss muscular dystrophy
* Myofibrillar myopathies

Limb-girdle muscular dystrophy
Muscles usually affected first by this form of muscular dystrophy include:

* Hips
* Shoulders

This form then progresses to the arms and legs, though progression is slow. Limb-girdle MD may begin from early childhood to adulthood.

Congenital muscular dystrophy
The term "congenital muscular dystrophy" refers to a group of inherited muscular dystrophies. Signs of these disorders may include:

* General muscle weakness
* Joint deformities

Congenital MD is apparent at birth or becomes evident before age 2. The course of this disorder varies significantly depending on the type. Some forms of congenital MD progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.

Oculopharyngeal muscular dystrophy
The first sign of this type of muscular dystrophy is usually drooping of the eyelids, followed by weakness of the muscles of the eye, face and throat, resulting in difficulty swallowing. Progression is slow. Signs and symptoms first appear in adulthood, usually in a person's 40s or 50s.

Distal muscular dystrophy
This group involves the muscles farthest away from the center of the body (distal muscles) — those of the hands, forearms, feet and lower legs. The severity is generally less than for other forms of MD, and this form tends to progress slowly. Distal MD generally begins in adulthood between the ages of 40 and 60.

Emery-Dreifuss muscular dystrophy
This form of muscular dystrophy usually begins in the muscles of the:

* Shoulders
* Upper arms
* Shins

Cardiac arrhythmias, stiffness of the spine and muscle contractures are other features of Emery-Dreifuss MD. Emery-Dreifuss MD usually begins in the childhood to early teen years and progresses slowly.

Myofibrillar myopathies (MFMs)
Though in some cases the MFMs affect only the muscles closest to the center of the body (proximal muscles) — such as the shoulder and hip muscles — the distal muscles also are usually involved. This group of muscle disorders also is commonly associated with:

* Stiffness of the spine
* Muscle contractures
* Nerve damage (peripheral neuropathy)
* Thickening and stiffening of the heart muscle (cardiomyopathy)

When to see a doctor
Duchenne's muscular dystrophy occurs almost exclusively in boys, although it can occur in girls. Your young child may have difficulty walking, running, rising from the floor or climbing the stairs, or may appear clumsy and fall often. These may be early indications of muscular dystrophy.

A child with MD may learn to walk later than other children do and may exhibit signs of muscle weakness between the ages of 2 and 6. By school age, a child with MD may walk unsteadily and on the toes or balls of the feet. Duchenne's MD usually results in children losing the ability to walk by age 12.

See your doctor if you're concerned about your child's:

* Motor abilities
* Clumsiness
* Muscle strength
* Muscle development

Once muscular dystrophy is diagnosed, medications and physical therapy can help slow its progression.

Because muscular dystrophies are inherited disorders, genetic counseling may be helpful if you're considering having children and to assess the risk of the disease in other family members.