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Muscular dystrophy – Types, Causes, Diagnosis, Treatment

Muscular dystrophy is not a singular disease but rather the term refers to a group of more than 30 genetically inherited diseases that damage and weaken the muscles over a period of time. Due to an abnormal gene mutation which effects the body’s ability to produce essential proteins, the body is unable produce enough dystrophin, which is necessary for healthy muscle function.

Muscular Dystrophy Causes

Muscular dystrophy (MD) is primarily caused by a rare mutation of the DMD gene in the X chromosome. For this reason, it mainly effects males, but very occasional females have been known to develop the disease. The faulty gene responsible for causing MD is nearly always inherited, however on very rare occasions it has been known to develop as a new event within a family. This is known as a spontaneous mutation, and it is unclear exactly what causes it. MD can also occur in children with no family history of the disease. This can occur if the gene is recessive and can have been passed on for many generations before the individual inherited the faulty gene from both sets of parents.

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Types of Muscular Dystrophy

There are many different types of MD and whilst all types cause muscle weakness, the areas affected, and the severity of the symptoms can vary greatly. Generally speaking, MD can be broken down into 9 categories. These different groups effect different areas of the body and include Becker, Congenital, Duchenne, Distal, Emery-Dreifuss, Facioscapulohumeral, Limb-Girdle, Myotonic, and Oculopharyngeal Muscular dystrophies.


Becker Muscular Dystrophy (BMD) is named after Peter Emil Becker, a German doctor who first identified the variant in the 1950’s. It affects the muscles of the hips, pelvic area, thighs, and shoulders, as well as the heart. Becker MD can affect anyone of all ages and onset can occur between 5 to 60 years of age.

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Congenital MD is a condition inherited at birth and symptoms first becomes apparent shortly after the baby is born. Babies with congenital muscular dystrophy are often weak at birth and may appear floppy. They may also suffer from breathing or swallowing difficulties. Congenital MD can lead to a variety of issues including joint stiffness or looseness, curvature of the spine, respiratory problems, learning difficulties and eye defects.


Duchenne is one of the more common forms of MD. symptom onset is in early childhood, usually between ages 2 and 3. The disease primarily affects boys, but in rare cases it can affect girls..


Distal muscular dystrophy affects the muscles of the arms, legs, hands, and feet. It usually comes on later in life and is most common between the ages of 40 and 60.


Emery-Dreifuss MD is an inherited disorder that usually presents in childhood with early symptoms including calf muscle weakness/atrophy, weakness and wasting of the muscles in the shoulders and arms and potentially fatal dilated cardiomyopathy which effects the heart. It is named after Alan Emery and Fritz Dreifuss, the physicians who first described the disorder back in the 1960s.

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Facioscapulohumeral MD primarily effects individuals below the age of 20. It causes wasting and weakness of the muscles in the face, shoulder blades, and upper arms. Its name comes from facies, the Latin word for face and scapula, the Latin word for shoulder blade.

Limb Girdle

Limb Girdle MD is a hereditary disorder that effects the muscles of the face, shoulder blades, and upper arms. It usually develops in late childhood or early adulthood with progression tending to be quicker when symptoms arise in childhood, as opposed to adulthood.

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Myotonic MD effects the small muscles in the face, jaw and neck. It can appear at any time and effects people of all ages from birth to old age. Unlike some other forms of MD, it effects women and men equally. Individuals with Myotonic MD often need to have their heart rate monitored for abnormalities as the condition effects the electrical impulses responsible for controlling the heartbeat.


Oculopharyngeal MD primarily effects the muscles in the eyes. Symptoms normally occur around the age of 50 years old and can affect in the eyes (ocular) and the throat (pharyngeal). Signs of Oculopharyngeal MD include droopy eyelids, problems swallowing food and limb weakness around the shoulders and hips.

How is muscular dystrophy diagnosed?

Before MD can be officially diagnosed, a physician will look at that person’s family medical history to see if there are any patterns of the condition. If they are able to determine that there is a history of MD in the family, they will then carry out a physical exam. They may also perform various tests such a muscle biopsy (the removal and exam of a small sample of muscle tissue) or taking blood samples to see if the person has elevated levels of certain proteins or enzymes in the blood that could indicate MD.

Muscular dystrophy is usually diagnosed in children between 3 and 6 years of age. Early signs of the illness include difficulty sitting upright, frequent falls or weakness in the shoulder or pelvic muscle. They may also struggle to adapt to walking taking longer than most other children.

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Treating Muscular Dystrophy

There are a range of treatments that can be used to treat muscular dystrophy. Although it can never be completely cured, many treatments have proven effective in relieving symptoms and retaining strength in the muscles. The treatment offered will differ depending on the area of the body that has been affected by MD. Effective treatments that have been used to treat the condition include the use of steroids and or creatine supplements to improve muscle strength and function, and ACE inhibitors to relax the arteries and make it easier for the heart to pump blood around the body. Beta blockers are also be used to control irregular heartbeats such as arrhythmias. If the condition is particularly severe then corrective surgery can be carried out. This is often used to lift dropping eyelids that are permanently closed in cases of Oculopharyngeal muscular dystrophy or in some cases surgery is carried out on the throat to alleviate problems with swallowing.

Future treatments

There’s currently a lot of research into stem cell treatment being carried out as a potential treatment for MD. Stem cells are cells that are still in the early stage of development and have the unique ability to turn into any type of cell in the body. It is believed by some scientists that stem cells can be turned into muscle cells and used to regenerate damaged muscle tissue which would be a huge step forward in the quest to find a potential cure for MD.

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