Muscular Dystrophy
Definition of Muscular Dystrophy
Muscular dystrophy, a genetic disorder with rapidly worsening muscle weakening.Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue
Cause of Muscular Dystrophy
These conditions are generally inherited, and the different muscular dystrophies follow various inheritance patterns. However, mutations of the dystrophin gene and nutritional defects (with no genetics history) at the prenatal stage are also possible in about 33% of people affected by DMD. The main cause of the Duchenne and Becker types of muscular dystrophy is the muscle tissue’s cytoskeletal impairment to properly create the functional protein dystrophin and dystrophin-associated protein complex.
Risk Factors for Muscular Dystrophy : Generally seemed in common in men
Signs and Symptoms of Muscular Dystrophy
- Progressive muscular wasting
- Poor balance
- Drooping eyelids
- Atrophy
- Scoliosis (curvature of the spine and the back)
- Inability to walk
- Frequent falls
- Waddling gait
- Calf deformation
- Limited range of movement
- Respiratory difficulty
- Joint contractures
- Cardiomyopathy
- Arrhythmias
- Muscle Spasms
Diagnosis of Muscular Dystrophy
Progressive muscle weakness is the main feature of muscular dystrophy. Each separate form of muscular dystrophy varies a bit in terms of the age at which the signs and symptoms usually begin and the sequence in which different muscle groups are affected.
Duchenne Muscular Dystrophy
About half of all muscular dystrophy cases are the Duchenne variety, which most commonly occurs in boys. Signs and symptoms typically first surface when the child begins to walk and may include:
- Frequent falls
- Difficulty getting up from a lying or sitting position
- Trouble running and jumping
- Waddling gait
- Large calf muscles
- Learning disabilities
Becker Muscular Dystrophy
This variety has signs and symptoms similar to Duchenne muscular dystrophy, but they typically are milder and progress more slowly. Symptom onset is generally in the teens but may not occur until the mid-20s or even later.
Other types of muscular dystrophy Certain other types of muscular dystrophy are defined by a specific feature or the location of the body where symptoms first begin. Examples include:
- Myotonic. Also known as Steinert’s disease, this form of muscular dystrophy also features an inability to relax muscles at will. It most often begins in early adulthood. Muscles of the face are usually the first to be affected.
- Limb-girdle. The hip and shoulder muscles are usually the first affected in this type of muscular dystrophy. In some cases, it becomes difficult to lift the front part of the foot, so frequent tripping may occur. Signs and symptoms may begin from early childhood to adulthood.
- Congenital. This category of muscular dystrophy is apparent at birth or becomes evident before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.
- Fascioscapulohumeral (FSHD). One of the most striking signs of this variety of muscular dystrophy is that the shoulder blades might stick out like wings when the person raises his or her arms. Onset usually occurs in teens or young adults.
- Oculopharyngeal. The first sign of this type of muscular dystrophy is usually drooping of the eyelids. Weakness of the muscles of the eye, face and throat often results in swallowing difficulties. Signs and symptoms first appear in adulthood, usually in a person’s 40s or 50s.
When to see a doctor
Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in yourself or your child.
Prevention of Muscular Dystrophy
Genetic counseling is advised when there is a family history of muscular dystrophy. Women may have no symptoms but still carry the gene for the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
Treatment of Muscular Dystrophy
There are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms.Physical therapy may help patients maintain muscle strength and function. Orthopedic appliances such as braces and wheelchairs can improve mobility and self-care abilities. In some cases, surgery on the spine or legs may help improve function.Corticosteroids taken by mouth are sometimes prescribed to children to keep them walking for as long as possible.The person should be as active as possible. Complete inactivity (such as bed rest) can make the disease worse.