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Muscular Dystrophy

Muscular dystrophy cases damage to the muscles

Muscular dystrophies (MD) usually begin in childhood and mainly affect males. Changes in the genes (mutations) cause a damage to the muscle fibers and interfere with the muscles’ ability to function; the muscles get increasingly weaker, which leads to a disability condition. Muscular dystrophies are a group of inherited genetic diseases which eventually cause the patients to use a wheelchair. Patients may also find trouble breathing which can be very dangerous. There are different types of muscular dystrophy; most of them start in childhood but other kinds can commence in adulthood. To slow the disease, several medications are available and therapy as well. If you know that you have a family history of MD, see a genetic counselor to find out if you might carry the gene and evaluate your condition if you are going to have children.

Muscular dystrophy symptoms

One of the most prominent symptoms of muscular dystrophy is weakness; the Duchene muscular dystrophy (DMD) is the most common one, it accounts for about fifty percent of all the muscular dystrophy cases. It affects boys at an early age; symptoms begin to surface when a child starts to walk and is characterized by:

  • Falling constantly
  • Difficulties in jumping and running
  • Trouble getting up or sitting from a lying position
  • Learning disabilities
  • Big calf muscles

There are other kinds of muscular dystrophy, (aside from DMD) a few are listed hereunder:

Becker Muscular Dystrophy; another variety of muscular dystrophy (BMD) whose onset of symptoms are much milder and begin in adolescence or even in the early twenties. BMD affects mainly boys.

Limb-girdle; (LGMD) the onset of the disease commences from childhood to adulthood. The shoulder and hip muscles are affected.

Myotonoc or (MMD); usually affects adults, damages the central nervous system, making life expectancy short

Oculopharyngeal; the muscles of the eyes are first to be affected usually by the drooping of the eyelids. People with oculopharyngeal have difficulties in swallowing as well. 

Facioscapulohumeral (FSDH); the shoulder sticks out when the person lifts his /her arm, occurs usually in young adults. Face muscles are also affected, eyes cannot be closed tightly


Diagnosis of muscular dystrophy

A family history of MD – information of family history of MD will assist the doctor to diagnose the disease

Muscle biopsy – A sample of muscle tissue is taken from the arm or the leg, under the microscope, its constituting protein can be tested and analyzed.

muscular dystrophy treatmentBlood tests – a blood test is conducted to check if there is creatine kinase in the blood. Muscle damage causes this protein to be in higher levels in the blood, which gives the doctor an indication that the muscle fibers are damaged.

Physical symptoms – The doctor will ask the parents if the child has difficulties in walking, climbing, and standing up from a sitting position and jumping, if he /she can lift easily his /her arms and legs and lift objects. The purpose of all these questions is to understand and identify which muscles are affected. The doctor will examine the way your child walks and stands, usually a child diagnosed with MD walks with their heels off the ground.

MRI, CT scan and EMG

Muscular dystrophy treatment

MD can cause scoliosis which can be operated to correct the deformity. Physiotherapy can be very helpful and medication for the improvement of muscle strength.

Research is working on ways to repair the genetic mutations of MD, yet there is still no cure.