Definition
Muscular dystrophy occurs when mutated genes affect the production of proteins that are needed in order a healthy muscle to be formed. Muscular disease refers to a group of diseases that lead to progressive weakness and loss of the muscle mass. A lot of different types of muscular dystrophy exist. The muscular dystrophy can affect people from both sexes, any race or at any age. However, the most common type, Duchenne, occurs during childhood, affecting boys generally. The other types occur in adulthood. Muscular dystrophy can eventually result in inability to walk, and in some cases people experience problematic breathing and troublesome swallowing. Unfortunately, there is no cure for this disease. Some medications and therapies can reduce the symptoms and slow down the progress of the disease.
Symptoms
The basic symptom of all types of muscular dystrophy is progressive muscle weakness. Other symptoms will differ depending on the age and muscle group.
The different types are:
- Duchenne muscular dystrophy:
- half of the cases of muscular dystrophy are of this type
- it generally affects boys (although girls can be mildly affected also)
- usually the cause is a sudden spontaneous gene mutation
- symptoms appear between age 2 and 3
- the symptoms can be: repeated falls, difficult standing up from a sitting or lying position, experiencing troubles to run or jump, walking on toes, large calf, muscle pain, muscle stiffness and learning disabilities
-
Becker muscular dystrophy:
- symptoms begin to appear during the teen years, but may not completely occur until the mid-20s or later
- the symptoms are similar to the Duchenne type of muscular dystrophy, but usually milder and progress slowly
- Myotonic (Steinert’s disease):
- most common type among adults
- characterized by inability to relax muscles
- the facial and neck muscles are often the first ones affected
- Facioscapulohumeral (FSHD):
- muscle weakness
- begins in the face and shoulders
- shoulder blades may stick out when raising an arm
- may begin during teenage years or childhood, or later at the age of 40
- Congenital:
- affects boys and girls
- obvious at birth or before the age of 2
- in some cases it progresses slowly causing mild disability, but in other it progresses quickly resulting in severe impairment
- Limb-girdle:
- hip muscles and shoulder muscles are affected first
- people with this type of dystrophy experience difficulties to lift the front foot part, thus tripping is a frequent matter
- occurs during childhood or teen years
It is recommendable to seek medical help when muscle weakness or frequent falling and clumsiness are noticed in a child or an adult.
Causes
Some genes are part of the production of proteins that protect the fibers of the muscle and keep the muscle from damage. When one of these genes is defective, muscular dystrophy happens. Every type of muscular dystrophy (listed above) is caused because of a mutated gene particular to that certain type of the disease. Many of the mutated genes can be inherited. Some can also occur spontaneously, either in the mother’s egg or the developing embryo and they can be transferred to the following generation.
Risk factors
People that have a history of muscular dystrophy in the family suffer a greater risk to develop the disease or to pass it on to the generation that follows.
Complications
The complications that can occur due to progressive muscular weakness are:
- inability to walk (wheelchair may be needed)
- muscle contractures
- scoliosis
- breathing difficulties (ventilator may be needed)
- swallowing problems that can lead to malnutrition and development of aspiration pneumonia (feeding tube may be needed)
- heart problems
Treatment
As there is no cure for muscular dystrophy, the treatments focus on prevention or reduction on the problems that may arise. The treatments should allow people affected with this disease to be able to stay mobile as longer as possible. The options for treatment of muscular dystrophy are: medications, physical therapy, surgeries and other procedures.
- Medications:
-corticosteroids which can improve the strength of the muscles and postpone the progress of some types of muscular dystrophy, but excessive use these medications can result in overweight or weak bones that increases the risk of fractures
-heart medications if the muscular dystrophy affects the heart
- Physical therapy:
-range-of-motion exercises that keep the joints flexible
-stretching exercises that relive the pain and stiffness of the muscle
-exercises such as low-impact aerobics, walking and swimming usually help in maintaining the strength, mobility as well as the general health
-some kinds of strengthening exercises
-braces that will support the weak muscles and slow down the progress of contractures
-mobility aids such as: canes, walkers and wheelchairs that give mobility and independence to the patient
-breathing assistance devices
- Surgery-that will repair possible curving of the spine that eventually makes the breathing even more difficult
