What is Muscular Dystrophy?

Muscular dystrophy, also called muscular dystrophy, usually appears in childhood. A typical sign of this muscle disease is muscle weakness in different parts of the body. You can find more information below.

What is muscular dystrophy?

Muscular dystrophy (MD) , also known as muscular dystrophy , is a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement.

Some forms of muscular dystrophy appear in infancy or childhood, while others may not appear until middle age or later. The disorders differ in the distribution and degree of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and inheritance pattern.

Duchenne muscular dystrophy is the most common form of MD and primarily affects men. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of the muscle. Onset is between 3 and 5 years of age and the disorder progresses rapidly. Most boys cannot walk until age 12 and then need a respirator to breathe.

Types of muscular dystrophy, causes and symptoms

There are nine main forms of Muscular dystrophy that affect people of all ages, from infancy to middle age or later. These forms differ in age of onset and the muscles affected. How severe the symptoms are and how quickly the disease progresses also varies by type.

The two most common types of MD affecting children are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).

Both DMD and BMD affect men almost exclusively. These are sex-linked (X-linked) disorders that are typically passed from a mother (who has no symptoms) to her son. Girls are rarely affected.

Both Duchenne muscular dystrophy and Becker muscular dystrophy cause weak muscles, lack of coordination, and progressive disability.

Detailed information about the main species and their symptoms are given under the following headings:

Duchenne muscular dystrophy (DMD disease)

DMD disease begins with muscle wasting in the pelvis, upper arms, and legs. The first signs and symptoms of DMD develop between the ages of 2 and 5. Symptoms include:

  • Delay in learning to walk and walking difficulties
  • Difficulty running or jumping due to weakness in leg muscles
  • Frequent falls, weakness, and difficulty climbing stairs
  • Difficulty standing when transitioning from sitting to standing
  • low endurance
  • enlarged calf muscles
  • Mild intellectual developmental delay (in some patients)
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Many children with DMD lose their ability to walk in late childhood and need a wheelchair. As the muscles continue to weaken in the back and chest, children develop a curvature of the spine (scoliosis). During adolescence, DMD often progresses to weaken the heart and respiratory muscles.

Becker muscular dystrophy (BMD disease)

Becker muscular dystrophy (BMD disease) begins with muscle wasting in the hips, pelvis, thighs, and shoulders. BMD is basically a milder form of DMD. Symptoms include:

  • Physical difficulties similar to Duchenne muscular dystrophy
  • Difficulty walking, perhaps walking on toes or pushing the abdomen out to balance weak muscles

BMD progresses more slowly over decades, making it a milder and less predictable disease. 30-year-olds or some men with BMD need wheelchairs; others manage for years with small aids such as walking canes.

If you think your child may have any form of muscular dystrophy, see your doctor as soon as possible for diagnosis and comprehensive care.

Congenital muscular dystrophy (CMD disease)

Congenital muscular dystrophy (CMD disease) refers to a group of muscular dystrophies that become apparent at or soon after birth. These muscular dystrophies are genetic, degenerative diseases that primarily affect the muscles we can control. CMD is caused by genetic mutations that affect certain proteins that are essential for the muscles and sometimes the eyes or brain.

CMD results in general muscle weakness with possible muscle stiffness or laxity. Depending on the type, CMD may include symptoms such as spinal curvature, respiratory failure, intellectual disabilities, learning disabilities, eye defects, or seizures.

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD), as the name suggests, the muscles that control the eyelids (oculo) and throat (pharyngeal) are often the first areas affected in OPMD patients. OPMD is a genetic disease caused by a defect or mutation in the PABPN1 gene. The mutation causes the protein encoded by the gene to acquire an abnormal form. This abnormal protein collects inside the muscle cells and interferes with their function. Eventually, these clumps can kill a muscle cell.

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Symptoms typically appear when patients reach middle age (around 40 to 60 years of age). The first symptoms are drooping eyelids and difficulty swallowing due to weakening of the muscles around the eyes and throat. Eye muscle degeneration can progress and lead to difficulties in moving the eyes and sometimes double vision.

Muscular dystrophy diagnosis

To diagnose muscular dystrophy, your doctor will take a complete medical history of your child and family. Your doctor will also perform a thorough physical examination of your child and may use laboratory tests to confirm a diagnosis of muscular dystrophy.

patient health history

Your doctor will talk about your child’s general health and past illnesses. You should make sure to provide your child’s complete medical history, including any other health issues. Your doctor will also ask you to describe your child’s symptoms. During the examination, you should let your doctor know if other family members have signs of muscular dystrophy.

physical examination

Your doctor will want to see how your child gets up from sitting on the floor. Because of weak leg muscles, children with DMD stand up in a unique way called the Gower maneuver. In this case, it is when the child pushes with his hands and arms to bring his body into an upright position while standing up. This is due to weakness in the hip and thigh muscles. Your doctor will also monitor your child’s walking. He or she can carefully test your child’s muscles and nervous system.

laboratory tests

Your doctor may use certain laboratory tests to confirm that your child has muscular dystrophy or to monitor changes caused by the disease, such as:

  • Blood tests: Your doctor will check a blood sample for high levels of the enzyme creatine kinase, which can indicate muscle damage.
  • Electromyography: Your doctor puts small electrodes intramuscularly to measure electrical activity. Changes in activity pattern may indicate disease.
  • Muscle biopsy: Your doctor removes a small piece of muscle for examination in the laboratory. This can distinguish various forms of muscular dystrophy from other muscle diseases.
  • Genetic testing: Sometimes your doctor may run a blood sample to identify an abnormal gene and diagnose muscular dystrophy.
  • Bone mineral density: Children’s bones can weaken over time, especially for children in a wheelchair. Your doctor may test your bone density to determine if treatment is needed.
  • Pulmonary function test: Your doctor may also monitor changes in respiratory function with a special breathing test.
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Muscular dystrophy treatment

Doctors do not yet have a cure for any type of muscular dystrophy. Fortunately, timely interventions can help slow the progression of complications and maximize your child’s quality of life.

Non-surgical treatment

The goals of non-surgical muscular dystrophy treatment include keeping your child’s body flexible, upright, and mobile, and helping your child work independently for as long as possible.

Your doctor may recommend the following various non-surgical treatments:

  • Physical therapy and support to prevent contractions: Your doctor may recommend daily stretching exercises to improve your child’s walking ability. Regular, moderate physical therapy can help maintain range of motion in stiff joints (contractures). Walking wires can help support weak muscles and keep the body flexible, slowing the progression of contractures.
  • Medications: In recent years, the use of corticosteroids in the treatment of muscular dystrophy has been shown to be very helpful – often expanding the child’s ability to walk, as well as delaying or preventing the onset of scoliosis. While corticosteroids have proven effective in slowing muscle degeneration, these medications have side effects and their use should be discussed in detail with your pediatric neurologist.
  • Assistive devices: Rehabilitation devices such as walkers, wheelchairs, pushchairs, and power wheelchairs can help maintain your child’s mobility and independence. Sometimes you may need to make changes to your home, such as widening doors and installing wheelchair ramps.

Surgical treatment

Your doctor may recommend surgical procedures to help preserve your child’s functional skills and improve their quality of life.

  • Surgical release of contractures: If the contractions are severe, your doctor may recommend tendon release surgery. In this procedure, your surgeon lengthens the tendon to relieve muscle tension. The tendon then takes longer to heal. Some surgeries can help the child continue walking.
  • Spinal fusion for scoliosis: In a wheelchair-bound child with muscular dystrophy, the scoliosis curve can be so severe that it can worsen an already existing respiratory problem. Having spine surgery before this happens can help with respiratory function, reduce back pain, and improve sitting balance. All these factors increase the quality of life of the child.

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