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Muscular dystrophy (MD) is a group of inherited diseases that damage and weaken your muscles over time. This damage and weakness are due to the lack of a protein called dystrophin, which is necessary for normal muscle function. The absence of this protein can cause problems with walking, swallowing, and muscle coordination.

Muscular dystrophy can occur at any age, but most diagnoses occur in childhood. Young boys are more likely to have this disease than girls. Muscular dystrophy can run in families, or a person can be the first in their family to have a muscular dystrophy. Most types of muscular dystrophy are X-linked hereditary diseases, which means they are more common in boys, who inherit the disease from their mothers.

The prognosis for muscular dystrophy depends on the type and the severity of symptoms. However, most individuals with muscular dystrophy do lose the ability to walk and eventually require a wheelchair. There’s no known cure for muscular dystrophy, but certain treatments may help. People diagnosed with MD are usually referred to neurologists, geneticists and physiotherapists for treatment.

Muscular dystrophies are rare, with little data on how many people are affected. The Centers for Disease Control and Prevention (CDC) is working to estimate the number of people with each major kind of muscular dystrophy in the United States.

All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk.

What are the symptoms of muscular dystrophy?

There are more than 30 different types of muscular dystrophy, which vary in symptoms and severity. There are nine different categories used for diagnosis. See reference site 1 for symptoms of each.

  • Initial symptoms include deformities, scoliosis (crooked spine), decreased muscle tone, intellectual retardation or a waddling action when walking.
  • The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

1) Duchenne muscular dystrophy is the most common among children.

  • The majority of individuals affected are boys. It affects around 1 in 3,600 boys, which results in muscle degeneration and premature death (Osmosis – Duchenne muscular dystrophy). It’s rare for girls to develop it.
  • This is the most common form of muscular dystrophy but also the most severe.
  • Symptoms present in infancy.
  • People with Duchenne muscular dystrophy typically require a wheelchair before their teenage years, most often by 11 years old. The life expectancy for those with this disease is late teens or 20s.

2) Becker muscular dystrophy is similar to Duchenne muscular dystrophy, but it’s less severe. This type of muscular dystrophy also more commonly affects boys. Muscle weakness occurs mostly in your arms and legs, with symptoms appearing between age 11 and 25.

  • Many with this disease don’t need a wheelchair until they’re in their mid-30s or older, and a small percentage of people with this disease never require one. Most people with Becker muscular dystrophy live until middle age or later.

3) Congenital muscular dystrophies are often apparent between birth and age 2. This is when parents begin to notice that their child’s motor functions and muscle control aren’t developing as they should.

  • While symptoms vary from mild to severe, the majority of people with congenital muscular dystrophy are unable to sit or stand without help. The lifespan of someone with this type also varies, depending on the symptoms. Some people with congenital muscular dystrophy die in infancy while others live until adulthood.
  • This form of MD can affect both boys and girls.

4) Myotonic dystrophy is also called Steinert’s disease or dystrophia myotonica.

  • It causes myotonia, which is an inability to relax the muscles after they contract. Myotonia is exclusive to this type of muscular dystrophy.
  • It starts with muscle weakness in the face and then moves on to the feet and hands.
  • This dystrophy type may also cause impotence and testicular atrophy in males. In women, it may cause irregular periods and infertility. A woman with myotonic MD can give birth to an infant with a congenital form of the disease.
  • Myotonic dystrophy diagnoses are most common in adults in their 20s and 30s. The severity of symptoms can vary greatly. Some people experience mild symptoms, while others have potentially life-threatening symptoms involving the heart and lungs.
  • Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

5) Facioscapulohumeral (FSHD) is also known as Landouzy-Dejerine disease affects the muscles in the face, shoulders, and upper arms.

  • It begins in adolescence or early adulthood and affects both genders.
  • A smaller number of people with FSHD may develop hearing and respiratory problems.
  • SHD tends to progress slowly. Symptoms usually appear during your teenage years, but they sometimes don’t appear until your 40s. Most people with this condition live a full life span.

6) Limb-girdle muscular dystrophy causes weakening of the muscles and a loss of muscle bulk, usually begins in the shoulders and hips, but it may also occur in the legs and neck.

  • It may be hard to get up out of a chair, walk up and down stairs, and carry heavy items and may also stumble and fall more easily.
  • Limb-girdle muscular dystrophy affects both males and females. This form begins in the teen or early adult years and causes disabilities by age 20. However, many have a normal life expectancy.

7) Oculopharyngeal muscular dystrophy causes weakness in your facial, neck, and shoulder muscles.

  • OPMD occurs in both men and women.
  • Individuals usually receive diagnoses in their 40s or 50s and affects the eyes and throat.

8) Distal muscular dystrophy is also called distal myopathy.

  • It affects the muscles in the forearms, hands, calves & feet.
  • It may also affect your respiratory system and heart muscles.
  • The symptoms tend to progress slowly and include a loss of fine motor skills and difficulty walking.
  • Most people, both male and female, are diagnosed with distal muscular dystrophy between the ages of 40 and 60.

9) Emery-Dreifuss muscular dystrophy tends to affect more boys than girls and usually begins in childhood.

  • Most individuals with Emery-Dreifuss muscular dystrophy die in mid-adulthood from heart or lung failure.

How is muscular dystrophy diagnosed?

  • Blood test for the enzymes released by damaged muscles
  • Blood test for the genetic markers of muscular dystrophy
  • Electromyography test on the muscle’s electrical activity using an electrode needle that enters your muscle.
  • Muscle biopsy to test a sample of your muscle for muscular dystrophy
  • Neurological tests can help rule out the presence of other neurological disorders.
  • Cardiac tests may be used to gather information about whether or not there is impairment in heart function.
  • Imaging, such as MRI and ultrasounds, might be used to take pictures and gather insights about the quality and density of muscle tissue.
  • Exercise assessments may be performed to check a person’s strength and respiratory function.

Treatment

  • There is no specific treatment to stop or reverse any form of MD.
  • Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery.
  • Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections.
  • Some individuals may benefit from occupational therapy and assistive technology.
  • Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.

Prognosis

  • The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. In some cases, a person with a muscle disease will get progressively weaker to the extent that it shortens lifespan due to heart and breathing complications.
  • Some children with MD die in infancy while others live into adulthood with only moderate disability.
  • While there is no known cure for muscular dystrophy, treatments may help slow progression and improve symptoms.
  • The various types of MD affect more than 50,000 Americans. WebMD – Muscular Dystrophy. Jun 25, 2020

Complications

The complications of progressive muscle weakness include:

  • Trouble walking. Some people with muscular dystrophy eventually need to use a wheelchair.
  • Trouble using arms. Daily activities can become more difficult if the muscles of the arms and shoulders are affected.
  • Shortening of muscles or tendons around joints (contractures), which further limit mobility.
  • Breathing problems. Progressive weakness can affect the muscles associated with breathing. People with muscular dystrophy might eventually need to use a breathing assistance device (ventilator), initially at night but possibly also during the day.
  • Curved spine (scoliosis). Weakened muscles might be unable to hold the spine straight.
  • Heart problems. Muscular dystrophy can reduce the efficiency of the heart muscle.
  • Swallowing problems. If the muscles involved with swallowing are affected, nutritional problems and aspiration pneumonia can develop. Feeding tubes might be an option.

History

  • In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist Guillaume Duchenne gave a comprehensive account of the most common and severe form of the disease, which now carries his name—Duchenne MD
  • Though MD is considered rare, it has become a household name largely due to Muscular Dystrophy Association's Labor Day Telethon, which was hosted for many years by Jerry Lewis and ran from 1966 to 2015.

Notables with Muscular Dystrophy

  1. Wikipedia – People with Muscular Dystrophy (28 listed)
  2. Wikipedia – Deaths from Muscular dystrophy (9 listed)
  • Alfredo Ferrari (nicknamed Alfredino or Dino) (1932–1956) had Duchenne muscular dystrophy
  • Sherman Labby (1929–1998) - his death from the effects of muscular dystrophy
  • Sister Mary Louise St. John, O.S.B. (1943-2003) - complications of muscular dystrophy.
  • Robert Sampson (March 4, 1925 – December 3, 2006) was a vice president at United Airlines. He was diagnosed with muscular dystrophy at age 5, and used a wheelchair for most of his life.
  • Richard P. Tinkham (1932–2018) – died from muscular distrophy at the age of 86.
  • Piergiorgio Welby (1945-2006) diagnosed with muscular dystrophy as a teenager in the early 1960s Wikipedia – Piergiorgio Welby

Organization

  • Muscular Dystrophy Association

Resources & additional reading:

Image references: (#1,2,3 have some good info)