What is Muscular Dystrophy? Types, Symptoms, and Causes

Muscular dystrophy is a class of hereditary genetic diseases that gradually weaken the muscles, resulting in increasing levels of impairment.

In muscular dystrophy, defective genes (mutations) prevent the body from making the necessary proteins that are required to build healthy muscle. As a result, it impairs one’s movement and day-to-day tasks. Certain types of muscular dystrophy start to appear at birth or during childhood. However, some types emerge later during adulthood. Unfortunately, there is no treatment for this condition.

What are the types of muscular dystrophies?

Muscular dystrophy can manifest in more than 30 different ways. The following are the most common forms:

• Duchenne muscular dystrophy
• Becker muscular dystrophy
• Facioscapulohumeral (FSHD)
• Myotonic
• Congenital muscular dystrophy (CMD)
• Limb-girdle muscular dystrophy

Duchenne muscular dystrophy

Duchenne Muscular Dystrophy

• This is the most typical or common type of muscular dystrophy. 
• Boys are much more likely to carry this than girls. 
• Most young children going through this have trouble running, walking, or skipping. 
• In addition, the heart and lungs of a child may be affected as the disease worsens.
• Some symptoms include having trouble getting out of a sleeping or seated posture, difficulty in jumping and running, stepping onto the toes, often falls, painful and tight muscles, having trouble learning, and slow growth.
• Duchenne Muscular Dystrophy (DMD) is the most common dystrophy affecting 1 in 3,500 boys.

Becker muscular dystrophy

Becker muscular dystrophy

• This is the second most frequent form of muscular dystrophy. 
• Its symptoms can manifest at any age between 5 and 60.
• However, the symptoms usually start to manifest in puberty. 
• Males are often more likely to develop Becker muscular dystrophy. 
• The condition affects the muscles of the hip, thigh, shoulder, and even the heart.

Facioscapulohumeral (FSHD) muscular dystrophy

Facioscapulohumeral (FSHD) muscular dystrophy

• The third most prevalent type of muscular dystrophy is facioscapulohumeral. 
• The condition affects the upper arm, shoulder, and facial muscles.
• Symptoms frequently start before the age of 20 or in the late 50s.

Myotonic muscular dystrophy

Myotonic muscular dystrophy

• Myotonic individuals have problems with letting their muscles relax.
• Cervical and facial muscles are typically the first to be impacted.
• Long, narrow cheeks, drooping eyelashes, and swan-like necks are common characteristics of people of this type.

Congenital muscular dystrophy (CMD)

Congenital muscular dystrophy (CMD)

• Boys and girls can develop this dystrophy, which manifests at birth or before age two. 
• Although some forms develop gradually and slightly affect people, others develop swiftly and seriously harm people.
• Its symptoms include hypotonia, tightness of the elbow, knee, ankle, and hips, eyes and breathing problems, and learning difficulties.

Limb-girdle muscular dystrophy

Limb-Girdle Muscular Dystrophy

• The shoulder and hip muscles, which are the most important to the body, are affected by this condition.
• People of various ages can be affected by it.
• It is characterized by weakness and wasting of arm and leg muscles.
• Symptoms include frequent falling, difficulty sitting, walking, raising arms, and lifting objects.

What are the causes of muscular dystrophy?

Genetic abnormalities or mutations bring on most types of muscular dystrophy. Even if parents don’t have the condition, one or both parents may convey a defective gene to their offspring. Most of these mutations are typically hereditary or inherited.

What are the symptoms of muscular dystrophy?

The main sign of muscular dystrophy is muscle weakening. Muscular dystrophy also manifests as:

1. Strained calf muscles
2. Difficulty in running or walking 
3. Difficulty in swallowing
4. Heart issues include heart failure and arrhythmia (cardiomyopathy)
5. Learning disabilities
6. Loose or stiff joints
7. Muscle pain
8. Bent spine (scoliosis)
9. Breathing issues

What factors increase the risk of muscular dystrophy?

People with a background of muscular dystrophy in their families are more likely to get the disease or pass it on to their offspring. The condition affects people of all ages, races, and genders.

What are the complications of muscular dystrophy?

Progressive muscle weakening has several side effects or complications, including:

1. Difficulty in moving and utilizing arms. Some muscular dystrophy patients eventually use a wheelchair. Daily tasks may become more challenging if the shoulders and arms are impaired.
2. Contractures are characterized by the shortening of muscles or tendons around joints, which can further restrict mobility.
3. Breathing issues. A ventilator may eventually be required for people with muscular dystrophy, initially only at night but possibly even throughout the day.
4. Bent spine (scoliosis). It’s possible that weakened muscles can’t keep the spine straight.
5. Heart issues. Muscular dystrophy can make the heart muscle less effective.

How might pregnancy be affected by muscular dystrophy?

The patient’s healthcare professional will regularly monitor the patient’s health during pregnancy to prevent complications. The issues could be:

1. Reduced mobility and increased muscle weakness because of weight gain.
2. Breathing issues are brought on by increased strain on the patient’s lungs.
3. Heart discomfort
4. Miscarriage 
5. Early labor or premature birth occurs before the 37th week of pregnancy.
6. A newborn with a low birth weight 

How is muscular dystrophy diagnosed?

The doctors mostly start with a medical history and physical examination. The doctors may then advise:

1. Enzyme testing: In this testing, damaged muscles release enzymes like creatine kinase (CK) into the blood. A muscle condition may be present in people without a history of trauma if their blood CK levels are high.
2. Genetic testing: It is possible to check blood samples for gene mutations resulting in specific muscular dystrophy.
3. Muscular biopsy: A hollow needle or an incision is used to extract a small amount of muscle. Muscular dystrophies can be distinguished from other muscle diseases through tissue sample analysis.
4. Electromyography (EMG): This measures muscle and electrical nerve activity.

What is the treatment for muscular dystrophy?

Medication, physical and occupational therapy, surgery, and other procedures are all available as treatment options. In addition, regular evaluations of walking, swallowing, breathing, and hand function allow the treatment team to modify the course of action as the illness progresses.

What kind of medications are used by health professionals for muscular dystrophy?

Doctors mostly recommend:

1. Prednisone and deflazacort are two examples of corticosteroids that may decrease the progression of the disease. However, continued use of these medications might result in weight gain, weakening bones, and an increased risk of fractures.
2. Eteplirsen (Exondys 51) is one of the more recent medications approved by the food and drug administration, particularly to treat Duchenne muscular dystrophy among patients.
3. If the heart is harmed by muscular dystrophy, cardiac drugs such as angiotensin-converting enzyme (ACE) inhibitors are prescribed.
4. Patients with a specific genetic mutation who have Duchenne dystrophy are typically treated with golodirsen (Vyondys 53).

What kind of therapies and assistive devices improves patients’ quality of life?

Many forms of therapies and assistive technology can enhance the quality of life for patients. Among them are:

1. Assistance with mobility: Mobility and independence can be maintained with wheelchairs, walkers, and canes.
2. Breathing support: A sleep apnea gadget could increase oxygen delivery at night as respiratory muscles deteriorate. Some people living with severe muscular dystrophy require ventilator support.
3. Stretching activities: Muscular dystrophy can limit the joints’ range of motion and flexibility. Exercises that increase the range of motion can assist in maintaining the flexibility of joints.
4. Exercise: Exercises like swimming and walking may keep the patient’s body strong, flexible, and healthy overall.
5. Braces: Braces can help with mobility and performance by supporting weak muscles.

When are surgeries needed in muscular dystrophy?

A spinal curvature or contractures that could ultimately make respiration more difficult may require surgery to be corrected. In addition, pacemakers and other cardiac devices can help to improve heart function.

Also Check, Muscular Dystrophy Treatment Options

FAQs

• What are the types of muscular dystrophy?
• What causes limb-girdle muscular dystrophy?
• Does muscular dystrophy affect older age people?
• What are the treatment options for muscular dystrophy?
• Is Ducchhene Muscular dystrophy curable?

Ted Edward

Ted Edward covers health, diseases issues and write information about them. He’s published many articles for big publishers.