Muscular Dystrophy: Causes, Symptoms, and Treatment

What is Muscular Dystrophy?

Muscular dystrophy (MD) is a group of genetic disorders characterized by progressive muscle weakness and degeneration. These conditions are caused by mutations in the genes responsible for the structure and function of muscles. Over time, muscles become weaker and smaller, affecting movement, balance, and, in some cases, respiratory and cardiac functions.

This condition can affect all people, irrespective of their age and gender. However, muscular dystrophy disease is most commonly found in those assigned male at birth. This is a rare condition that affects only about 0.03% of the population across the globe.

Types of Muscular Dystrophy

There are several types of muscular dystrophy:

• Duchenne Muscular Dystrophy (DMD)

This is the most common and severe forms, typically affecting boys in early childhood. This condition affects about 1 child in 3600 males. Boys develop this between 2 and 6 years, and by the time they grow into their late teens, they lose their ability to walk.

• Becker Muscular Dystrophy (BMD)

In this condition, the dystrophin protein is very low in the skeletal muscles. This is not as severe as DMD; kids assigned male at birth start showing symptoms between 11 and 25 years.

• Congenital Muscular Dystrophy (CMD)

This condition may affect kids as soon as they are born or by the time they turn 2 years old. It causes a severe hampering of one’s motor skills.

• Myotonic Dystrophy

Also known as Steinert’s Disease, this condition is where individuals are diagnosed with myotonia, a state where the muscles don’t relax after contraction. Symptoms usually appear in the face and neck initially in adults.

• Facioscapulohumeral Muscular Dystrophy (FSHD)

Also known as Landouzy-Dejerine disease, this condition causes the muscles in the face, neck, shoulders, and upper arms to weaken and degenerate.

• Limb-girdle Muscular Dystrophy (LGMD)

This causes severe disability in the shoulder and hip muscles initially before progressing to other parts of the body.

• Oculopharyngeal Muscular Dystrophy (OPMD)

A rare type of muscular dystrophy, this condition causes the muscles in the face, neck, and shoulders to weaken very quickly.

• Distal Muscular Dystrophy

Also known as distal myopathy, this condition results from the combined effect of over 6 diseases, and it mostly weakens the muscles in the forearms, hands, calves, and feet.

• Emery-Dreifuss Muscular Dystrophy (EDMD)

Found usually in kids assigned male at birth, this condition is quite rare; it affects the heart muscles to a great extent.

Symptoms of Muscular Dystrophy

The most common symptoms of this condition are:

• Loss of mobility

• Thinning of bones

• Irregular posture

• Absence of reflex actions

• Weakening of vital organs like the heart and lungs

• Difficulty breathing and swallowing

• Frequent accidents of falling

• Absence of motor skills (hand-eye coordination)

• Vision, speech, and hearing disabilities

• Drooping of facial muscles

• Sudden weight loss

• Profuse sweating

• Cardiac issues

• Eyelids drooping frequently

Causes of Muscular Dystrophy

• Autosomal dominant inherited disorder —

A condition where the child inherits the dominant gene difference from one parent

• Autosomal recessive inherited disorder —

A condition where gene difference can be inherited from both parents

• Sex-linked disorder –

A condition where the child inherits the faulty X chromosome from one parent and the Y chromosome from another parent

• Spontaneous mutation –

A condition where the child’s biological parents aren’t the actual carriers of the disease, but the child develops it because of a sudden change in genes.

Risk Factors of Muscular Dystrophy

Muscular Dystrophy, as it progresses, can lead to the following risk factors:

• Inability to walk, leading to dependency on wheelchairs

• Inability to move arms and shoulders

• Tendon or joint muscles becoming shortened (contractures)

• Respiratory issues, eventually leading to dependency on ventilators

• Spinal cord losing structure and becoming curved (scoliosis)

• Weakening of the heart muscles

• Difficulty swallowing and chewing

• Complications in pregnancy

Diagnosis of Muscular Dystrophy

Doctors follow these diagnostic procedures to confirm muscular dystrophy disease:

• Blood tests

• Genetic testing

• Electromyography

• Physical examination of the nervous system

• Echocardiogram and other cardiac tests

• MRIs, X-rays, and Ultrasound scans

• Assessment through exercises

Treatment of Muscular Dystrophy

Although there is no permanent cure to treat muscular dystrophy, doctors may advise the following treatment procedures based on the intensity of an individual’s condition:

• Medications –

Doctors may opt for new processes like weekly injections, pills, and oral supplements to reduce the damage caused by the gene difference.

• Gene Therapy –

Elevidys is the first gene therapy approved by the FDA for kids between 4 and 5 years old.

• Muscle Therapy –

This includes physical, respiratory, speech, and other occupational therapies.

• Other processes –

This includes medications and surgeries to correct muscle functioning, cardiac issues, respiratory issues, contractures, scoliosis, and more.

FAQs

1. Is there a permanent cure for muscular dystrophy?

Currently, there is no permanent cure for muscular dystrophy, but doctors advise different treatments based on the intensity of the condition.

2. Is it possible to live a normal life when you have muscular dystrophy?

In some rare cases, you may experience severe weakness of the muscles when diagnosed with this condition. However, in most cases, people lose their ability to walk and have to depend on wheelchairs as the disease progresses.