Duchenne Muscular Dystrophy: Definition, History, 4 Symptoms, and Causes

Duchenne Muscular Dystrophy Definition

Duchenne Muscular Dystrophy (DMD) is one of the most common types of muscular dystrophy disease. Muscular dystrophy is a condition of muscle weakness so the sufferers can experience disabilities or defects.

There are nine types of muscular dystrophy. DMD is a genetic disease that causes weakness in the voluntary muscles or muscles that work consciously. DMD is usually more severe than other types of muscular dystrophy.

Symptoms of DMD occur at the age of children and sufferers usually reach the age of young adulthood (20 or 30 years). The disease is more common in boys.

Duchenne Muscular Dystrophy History

The disease was first described by Italian physician, Giovanni Semmola in 1834 and Gaetano Conte in 1836. However, the disease is named after the French neurologist Guillaume Benjamin Amand Duchenne (1806–1875) who described a boy suffering from dystrophy in his 1861 book, “Paraplegie hypertrophique de l’enfance de cerebral causee“.

A year later, he published photographs of sufferers in “Album de photographies pathologiques.” In 1868, he presented a report of thirteen other infected children. Duchenne was also the first person to perform a biopsy to obtain tissue from sufferers in order to be able to perform the examination using a microscope.

Duchenne Muscular Dystrophy Symptoms

Muscle weakness can begin from the age of 3 years. It first affects the hip muscles, pelvic area, thighs and shoulders, and then skeletal muscles (voluntary) in the arms, legs, and body. Calves are often enlarged. In early adolescence, the heart and respiratory muscles are also affected.

Symptoms of Duchenne Muscular Dystrophy (DMD) sufferers include:

• Swing walking style
• Frequent falls while walking
•  Difficulty on the uphill road, usually appears in the child begins to walk
• Muscle weakness increases, and respiratory and cardiovascular conditions develop, so individuals are confined to wheelchairs, usually at the age of 7-10 years.

Affected children may experience motor skill delay, such as sitting, walking, and standing. They usually depend on a wheelchair in adolescence. In most cases, weakness of muscle becomes evident later in young people or in teenager and worsens at a much slower rate.

DMD is associated with a heart condition called cardiomyopathy. This heart disease form weakens the heart muscle, blocking the heart from flowing blood efficiently. In DMD, cardiomyopathy usually begins in teenager. Later, the heart muscle grew, and heart problems grow into a problem known as dilated cardiomyopathy.

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Dilated cardiomyopathy symptoms and signs can include irregular heartbeat (arrhythmia), extreme fatigue, shortness of breath, and the limbs and legs swell. This heart problem worsens rapidly and becomes life-threatening in most cases. Men with Duchenne Muscular Dystrophy (DMD) usually live into their twenties.

The condition most often affects boys, because of the way the disease is inherited. The mother of this man is considered heterozygous for this X-linked recessive allele. This recessive disorder is very rare in women because girls who are carriers of the disease (women with defective genes, but do not have their own symptoms) each have a 50% chance of having the disease.

The girls each has a 50% chance of becoming carriers, and girls must inherit many mutant alleles from their affected mothers and fathers. DMD occurs in about 1 in every 3,600 baby boys, as this is a congenital disorder, the risks include a family history of DMD

Duchenne Muscular Dystrophy Cause

Duchenne Muscular Dystrophy (DMD) is a genetic disease that can be inherited in the family. Sufferers usually have a gene mutation associated with a muscle protein called dystrophin.

The function of such proteins is to keep muscle cells intact. Disruption of these proteins or their absence will cause rapid muscle damage as children with DMD grow.

Having a family history with DMD increases the risk of developing the disease. However, DMD can also occur even if there is no history of the disease in the family. In this case the family can be the carrier (silent carrier) DMD.

The boys also had a higher risk of DMD than girls. Girls who get DMD gene derivatives will be asymptomatic carriers. Meanwhile, boys who get DMD gene derivatives will become sufferers.

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