How much do you know about muscular dystrophy (MD)?

The term Muscular dystrophy (MD) is representative of nine congenital muscle disorders.The disorders present as a mixture of muscle weakness and lost strength. However, there are some kinds of diseases within this group that do have additional symptoms. With muscular dystrophy, the main sign is the presence of abnormal genes or mutations. These interrupt the production of the proteins needed to form healthy muscle in the body.

MD can start at infancy, early childhood or in later stages of life. It is important to note that muscular dystrophy is a degenerative disease. It can result in death.There is no known cure for MD, but modern treatments can prolong the lifespan of people diagnosed.

For the most part, muscular dystrophy is quite rare. Nevertheless, its awareness profile has been raised considerably by the Muscular Dystrophy Association. For example, their Labor Day Telethon hosted by Jerry Lewis helped considerably. It ran between 1966 – 2015.

 

How Do You Get Muscular Dystrophy?

As outlined earlier, muscular dystrophy is caused by the lack of certain proteins required for muscle structure and mobility. Many types of MD are specifically caused by a deficiency in a protein known as dystrophin. It mainly optimises muscle function. Muscular dystrophy is more common in boys as they are X-linked. This means that the disease is passed down from mother to boy child.

Any of the two X chromosomes present in a woman’s genes may carry MD. But a carrier with only one defective X chromosome may not show any symptoms of any type of muscular dystrophy. Their daughters may also show no signs of MD. But as long as a boy inherits this defective chromosome, the disease will likely manifest in them.

Medical research has found that there are over 30 genes linked to different types of MD. A genetic counsellor can give potential advice to mothers-to-be about whether testing is recommended.

One in every 3,000 children is born with this condition. MD mostly affects boys. One in every 1,200 people are either born with or develop late-onset muscular dystrophy.

Initial symptoms include:

  • Physical deformities
  • Scoliosis, also known as a crooked spine
  • Reduced muscle tone
  • Intellectual retardation
  • Waddling while walking.

All forms of muscular dystrophy need confirmed diagnosis. MD is diagnosed by means of a physical examination. Blood tests are also performed on potential carriers and their DNA is examined.

 

At What Age Is Muscular Dystrophy Diagnosed?

The main forms of muscular dystrophy manifest symptoms in boys. Other types of this condition do not surface until adulthood.

Duchenne MD is one of the most common forms of this disease. Genetic studies during pregnancy can detect it. Even though the disease may be identified, there’s still no way to prevent it.

Parents must then make the difficult choice of deciding whether or not to continue with the pregnancy.

MD is diagnosed by means of a physical examination that notes all possible symptoms. Blood tests are also performed on potential carriers and their DNA is examined.

 

How Does Muscular Dystrophy Affect the Body?

The different types of muscular dystrophy vary in symptoms and their severity. Each of them is grouped into categories. This makes diagnosis easier. Symptoms can be broken down per category as follows:

 

Duchenne muscular dystrophy

This type of MD is more prevalent in children. It mostly affects a higher number of boys and is quite rare in girls. The symptoms of Duchenne muscular disorder are:

  • Problems standing upright
  • Bad  posture
  • Thinning of the bones
  • Difficulty walking
  • Absence of reflexes
  • Scoliosis
  • Mild mental slowness
  • Breathing problems
  • Swallowing issues
  • Weakened heart and lungs

 

People afflicted by Duchenne muscular dystrophy will often need the use of a wheelchair before entering their teens.

They may also require tailored sleeping and seating solutions to increase their quality of life. The average lifespan of a person diagnosed with Duchenne MD is roughly 20 years.

 

Becker muscular dystrophy

Symptoms of Duchenne and Becker muscular dystrophy are very similar. But Becker muscular dystrophy is less severe. Muscle weakness in this type of muscular dystrophy mainly affects the arms and legs.

Initial symptoms of Duchenne and Becker muscular dystrophy begin from the ages of 11 to 25. These include:

  • Persistent falling accidents
  • Difficulty standing up from the floor
  • Walking on toes
  • Muscle cramping

Most people affected may not need a wheelchair until their mid or late 30s. A very small percentage may never need a wheelchair at all.

The average life expectancy of people with Becker muscular dystrophy is middle age or later. However, people diagnosed with Becker MD can have a normal life expectancy.

 

Congenital muscular dystrophy

The symptoms of congenital muscular dystrophies can appear as early as the point of birth. They can also be seen by age 2. They present as delayed motor function and muscle control.

Symptoms may include:

  • Weakened muscles
  • Difficulties with motor control
  • Problems sitting or standing without support
  • Spinal deformity
  • Deformed feet
  • Problems with swallowing
  • Breathing problems
  • Vision issues
  • Speech and intellectual impairment

 

These symptoms may appear mildly or severely. But most people affected by congenital muscular dystrophy cannot sit or stand without some help. They may need specialised furniture.

The life expectancy of people affected by these types of muscular dystrophy also varies. Some may die as infants while others may live well into adulthood. It all depends on their symptoms.

 

Myotonic dystrophy

Another medical term for Myotonic dystrophy is Steinert’s disease. It can also be referred to as dystrophia myotonica. It causes myotonia, which is the incapability to relax muscles after contraction. This symptom is unique to this only type of muscle weakness.

The areas affected by Myotonic dystrophy include:

  • Eyes and facial muscles
  • Adrenal glands
  • The central nervous system
  • Heart
  • Thyroid
  • The gastrointestinal tract

The initial symptoms of this type of muscle weakness appear in the face and neck. They may appear as:

  • Problems with swallowing
  • Drooping eyelids (ptosis)
  • Premature baldness in the front scalp area
  • A thin, haggard appearance caused by drooping muscles in the face
  • Inability to lift the neck
  • Poor vision
  • Weight loss
  • Increased sweating

 

This type of disorder can cause testicular atrophy and impotence in men. Women who have it may suffer from infertility and irregular menstruation.

Diagnosis can happen for adults in their 20s and 30s. The severity of symptoms can vary. They can range from mild to potentially life-threatening, as the heart and lungs are affected.

 

Facioscapulohumeral (FSHD)

Another name for  Facioscapulohumeral muscular dystrophy (FSHD) is Landouzy-Dejerine disease. It commonly impacts muscles located in the face, upper arms and shoulders.

Symptoms related to FSHD include:

  • Problems with chewing and swallowing
  • Drooping shoulders
  • Wing-like shoulder blades
  • Crooked looking mouth

A small percentage of people affected by FSHD can have hearing and respiratory difficulties. The progression of symptoms is slow but may appear in teens. However, it is not uncommon for symptoms to appear in the 40s.

People with FSHD can live a normal life expectancy.

 

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy results in severely weakened muscles. It also causes a loss of muscle bulk.

This type of dystrophy starts by affecting the shoulders and hips. It can also affect the muscles in the neck and legs.

The symptoms can make it difficult to carry out certain motor functions. They include:

  • Problems with rising from a chair
  • Inability to walk up or down a flight of stairs
  • Struggling to lift or carry heavy materials
  • Frequent falling and stumbling

 

This disorder equally affects males and females. Most people who have this form of muscular dystrophy are disabled by the age of 20. However, they can have a normal life expectancy.

 

Oculopharyngeal muscular dystrophy (OPMD)

Oculopharyngeal muscular dystrophy results in weakened face, the shoulder muscles and the neck.

Other key symptoms related to OPMD are:

  • Limp or dropped eyelids
  • Difficulty in swallowing
  • Voice fluctuations
  • Sight problems
  • Heart issues
  • Trouble with walking

Both men and women can suffer from OPMD. People can get a confirmed diagnosis well into their 40s or 50s.

 

Distal muscular dystrophy

Another term for Distal muscular dystrophy is distal myopathy. It targets the muscles found in the forearms, hands, calves and feet.

The symptoms for this type can affect the heart muscle and the respiratory system too.

It may also affect the muscles of the heart and the respiratory system. The symptoms progress relatively slowly. They manifest as the loss of fine motor skills and problems walking.

Distal muscular dystrophy affects men and women equally. Diagnosis can be confirmed between the ages of 40 and 60.

 

Emery-Dreifuss muscular dystrophy

Boys have a higher chance of having Emery-Dreifuss muscular dystrophy than girls. It is one type of muscular dystrophy that begins in childhood.

The symptoms are:

  • Upper arm and lower leg muscle weakness
  • Respiratory problems
  • Heart issues
  • Shortening of muscles in the elbows, neck, spine, neck, knees and ankles.

People who have Emery-Dreifuss muscular dystrophy die in their middle ages due to heart or lung failure.

Alt-text dystrophy muscular / muscle dystrophy association Duchenne and becker

Treatment of Duchenne muscular dystrophy and the other forms of the disease is twofold. It includes a combination of physiotherapy and occupational therapy for the muscles.

MD can be treated using surgical methods to reduce the side effects of shortening muscles. It is always important to follow the advice from your healthcare professionals.

 

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