Group of diseases that are characterized by weakness and loss of muscle mass in which abnormal genes (mutations) affect protein production (involved in muscle development).

 

Types of muscular dystrophy:

Common forms – myotonic, Duchenne, Becker, limb-girdle, congenital, facioscaplohumeral (FSHD), oculopharyngeal (affects the eyes and throat muscles),

Rare forms: distal, Emery-Dreifuss

 

In most types, symptoms usually occur in childhood. According to the type of muscle dystrophy and its severity, different complications can occur: contractures (shortening) of muscles and joints, inability to walk, spine deformation, heart problems, breathing problems, difficulties in swallowing.

Causes

Defective genes, genetic mutations

Inherited defective genes

These genetic “errors” affect muscle fiber

Symptoms and signs

Duchenne muscular dystrophy:

Usually affects boys

Occurrence: between 2 and 6 years of age

Trouble keeping balance – frequent falls

Tendency to walk on toes

Difficulty in getting up

Difficulty in running, jumping

Muscle pain

Learning difficulties

Progressive deformation of the spine

 

Becker muscular dystrophy:

Similar symptoms to Duchenne

Specific: slower progression of the disease, milder symptoms

Usual occurrence: teen years, mid 20’s

 

Myotonic muscular dystrophy (MMD or Steinert’s disease):

Inability to voluntarily relax muscles

Prolonged muscle spasms

Usually affects neck and face muscles

 

Facioscapulohumeral:

Muscle weakness in face and shoulders

Usual symptom occurrence: teen years to 40 years

Affects both sexes

Difficulties in swallowing, chewing, speaking

 

Congenital:

Affects both sexes

Present from birth or first months of life

Muscle weakness

Contractures of the muscles

Possible abnormalities of the brain

Seizures

 

Limb-girdle:

Weakness in hips that progresses to the shoulders, arms and legs

Usual occurrence: teen years to early adulthood

Difficulty walking

Advice

Personal medical history and family medical history is checked by the doctor

 

After a physical examination further tests may be recommended

 

Blood tests: enzyme test (a high level of certain enzymes could indicate muscle disease), genetic testing (to check for gene mutation)

 

Electromyography (an electrode needle measures the electrical activity of the muscle)

 

Muscle biopsy

 

Heart and lung monitoring tests (used to check heart and lung function especially in cases diagnosed with myotonic muscular dystrophy)

 

Muscular dystrophy has no cure, but treatment is focused on managing symptoms and maintaining the person’s mobility for as long as it is possible

 

Medication: corticosteroids (to improve muscle strength and delay the disease’s progression), angiotensin-converting enzyme (ACE) inhibitors or beta blockers (in case of heart damage)

 

Recommended therapies: exercise (low-impact: swimming, walking, light aerobics, stretching)

 

Assistive devices: braces, canes, wheelchairs, sleep apnea machine (in the case of respiratory complications)

 

Surgery may be recommended to correct exaggerated curvatures of the spine that cause heart or lung problems

MISCONCEPTIONS
  •  

    Milkshakes and protein supplements can prevent muscle dystrophy.

     

    Prenatal testing cannot determine the presence of Duchenne/Becker muscular dystrophy.

     

    Physical activity should be completely avoided.

     

    The cause of muscle dystrophy cannot be genetic if there is not at least one family member that suffers from it.

Statistics

 

Over 50,000 Americans are affected by some type of muscular dystrophy

 

In the US, 1 in 5,600 to 7,700 males are affected by Duchenne or Becker muscular dystrophy (ages 5-24)

 

In the age group of 10-14 years: 82% of the males with Duchenne or Becker muscle dystrophy use a wheelchair

Did you know?

 

Myotonic dystrophy is the most common muscular dystrophy to affect adults.

 

People with Duchenne muscular dystrophy usually do not live past 25 years.

 

There are around 27 drugs that are in different testing stages for Duchenne MD.