Muscular Dystrophy > Muscular Dystrophy Articles > Symptoms of Muscular Dystrophy

Symptoms of Muscular Dystrophy



Symptoms may vary greatly in magnitude, depending on the type of disease, but they generally include:

  • Apparent lack of coordination, especially during walking
  • Muscle weakness
  • Progressive loss in range of motion

Specific symptoms vary the most in the muscle areas affected, age of onset and severity of impairment, it is therefore important to consider the symptoms on a case-by-case basis

Duchenne muscular dystrophy is the most severe form of dystrophinopathy. It is most common in young males and is the most common form of dystrophinopathy in children. Symptoms of Duchenne MD include:

  • Impairment of balance, resulting in frequent falls
  • Large calf muscles (which try to compensate for weaknesses in other muscles)
  • Abnormal difficulty getting up from a sitting or lying position
  • Difficulty walking, running and jumping, due to weak leg muscles
  • Waddling gait
  • Scoliosis (curved back)

The age of onset is usually between 2 and 5. The disease first affects the muscles of the pelvis, upper arms and upper legs. By late childhood, most children with Duchenne MD are unable to run and even walk. Most die by their late teens or early 20s, the main causes being pneumonia, diaphragm muscle weakness or cardiac complications.

Becker's muscular dystrophy is a milder form of dystrophinopathy, with roughly the same symptoms as Duchenne MD. The age of onset is generally higher than Duchenne's, affecting older boys and young men, and progresses more slowly, usually over several decades. Usually, patients affected by Becker's MD are able to walk until at least age 15, and often well into their twenties and thirties.

Myotonic dystrophy (Steinert's disease)
This form of muscular dystrophy produces the same muscle weaknesses found in other forms or dystrophinopathies, with an added abnormal stiffness of muscles and myotonia (difficulty or inability to relax muscles)

This form usually affects adult people, but there are known cases of affected children. The disease varies a lot in its severity. Progression is usually slow. Besides myotonia, signs and symptoms of adult-onset Steinert's disease 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 face, neck and head muscles (the face often has a hollow appearance).
  • Weakening of muscles involved in breathing (diaphragm) and swallowing (larynx). This translates in general fatigue induced by hypoxy (lack of oxygen) and greater 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 the muscular layer in hollow internal organs (e.g. digestive tract,bladder etc). This may cause digestive problems (constipation, diarrhea).r 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.

In rare situations, this form of MD can be found in infants, and is then called congenital myotonic dystrophy. This congenital form is more severe (although the affected babies are not affected by myotonia). Symptoms may include:

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

Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine disease)
As with many other MDs, this form causes progressive muscle weakness, often in this order:

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

This form of MD usually manifests between the teen to early twenties and has a slow progression. A specific trait: when a person with Facioscapulohumeral MD raises his or her arms, the shoulder blades may be abducted (stick out) appearing like wings.

The other major types of muscular dystrophy are rare. They include:

  • Limb-girdle muscular dystrophy
  • Congenital muscular dystrophy
  • Oculopharyngeal muscular dystrophy
  • Distal muscular dystrophy
  • Emery-Dreifuss muscular dystrophy

Limb-girdle muscular dystrophy
This dystrophy is characterized by the muscles affected first, which usually include:

  • Hips
  • Shoulders

This form then slowly progresses to the limbs. Limb-girdle MD may begin from early childhood to adulthood.

Congenital muscular dystrophy
Signs of congenital MD may include:

  • Muscle weakness (general)
  • Joint deformities

This form is already present at birth and progresses slowly. The most severe forms of congenital MD may involve mental (and speech) problems or seizures

Oculopharyngeal muscular dystrophy
This form of MD usually begins between age 40 and 60, and its symptoms are eyelid ptosis (drooping of the eyelids) and weakness in muscles of the face, throat and eye. Those affected usually have difficulty swallowing. The progression is slow

Distal muscular dystrophy
Distal means "far from the center of the body", and this type of muscular dystrophy involves precisely these muscles � those of the hands, feet, forearms and lower legs. This form of MD usually begins between age 40 and 60, has a slow progression and is less severe than other forms of MD

Emery-Dreifuss muscular dystrophy
This form of muscular dystrophy usually begins in the muscles of the upper arms, shoulders and shins. The age of onset is usually childhood or early teens and progresses quite slowly. Symptoms may include muscle contractures and stiffness in the muscles of the spine


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