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Sign and Symptoms of Muscular Dystrophy
The Muscular Dystrophies (MD) are a group of more than 30 genetic diseases characterized byprogressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The main Muscles dystrophies include:
- Becker muscular dystrophy
- Duchenne muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- Facioscapulohumeral muscular dystrophy
- Limb-girdle muscular dystrophy
- Myotonia congenita
- Myotonic dystrophy
Duchenne MD is the most common form of MD and primarily affects boys. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children.
Myotonic muscular dystrophy is the most common form affecting adults. Muscular dystrophy can affect people of all ages.
Symptoms vary with the different types of muscular dystrophy.
All of the muscles may be affected. Or, only specific groups of muscles may be affected, such as those around the pelvis, shoulder, or face. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.
- Poor balance
- Scoliosis (curvature of the spine and the back)
- Waddling gait
- Calf deformation
- Limited range of movement
- Respiratory difficulty
- Joint contractures
- Mental retardation (only present in some types of the condition)
- Muscle weakness that slowly gets worse
- Delayed development of muscle motor skills
- Difficulty using one or more muscle groups
- Progressive muscular wasting
- Eyelid drooping (ptosis)
- Frequent falls
- Loss of strength in a muscle or group of muscles as an adult
- Loss in muscle size
- Problems walking (delayed walking)
The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.
Joint contractures, deformities and scoliosis
Permanent progressive disability
Decreased functional ability to care for self
Mental impairment and depressive manifestations
Cardiomyopathy, respiratory failure and death
Women may be asymptomatic but still be carrier of gene for the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
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