Muscular Dystrophy
Muscular dystrophy is a group of diseases that make muscles weaker and less flexible over time. It is caused by a problem in the genes that control how the body keeps muscles healthy. For some people, the disease starts early in childhood. Others don’t have any symptoms until they are teenagers or middle-aged adults.
How muscular dystrophy affects you or your child depends on the kind. Most people’s condition will get worse over time, and some people may lose the ability to walk, talk, or care for themselves. But that doesn’t happen to everyone. Other people can live for many years with mild symptoms.
Type:
There are more than 30 kinds of muscular dystrophy, and each is different based on:
-The genes that cause it
-The muscles it affects
-The age when symptoms first appear
-How quickly the disease gets worse
People usually get one of nine major forms of the disease:
Duchenne muscular dystrophy (DMD) is the most common form. It mainly affects boys, and starts between ages 3 and 5.
Becker muscular dystrophy is like Duchenne, except milder. It also affects boys but the symptoms start later -- between ages 11 and 25.
Myotonic muscular dystrophy is the most common form in adults. People who have it can't relax their muscles after they contract. It can affect both men and women, and it usually starts when people are in their 20s.
Congenital muscular dystrophy starts at birth or shortly afterwards.
Limb-Girdle muscular dystrophy often starts in a person's teens or 20s.
Facioscapulohumeral muscular dystrophy affects the muscles of the face, shoulders, and upper arms. It can affect anyone from teenagers to adults in their 40s.
Distal muscular dystrophy affects the muscles of the arms, legs, hands, and feet. It usually comes on later in life, between ages 40 and 60.
Oculopharyngeal muscular dystrophy starts in a person's 40s or 50s. It causes weakness in the muscles of the face, neck, and shoulders, and droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia).
Emery-Dreifuss muscular dystrophy affects mainly boys, usually starting around age 10. People with this form often have heart problems along with muscle weakness.
There are many treatments that can help keep muscles strong and flexible, and scientists are looking for new ones, too.The important thing is to get the treatment you need and find support.
Factors:
Muscular Dystrophy is the genetic disorder due to faulty expression of mutated genes. Almost 90% of the disorders are being inherited from the family history whereas 10% of them are expressed due to spontaneous changes in their mothers egg or developing embryo that has been passed on to the next generation. A female who carries the faulty genes can pass the same on the next generation. If the genes are being passed to the daughters, they become a carrier of the same whereas if the genes are being passed on to the boys they tend to express the symptoms.
Researcher could ultimately discover the abnormal gene which when defective can cause Muscular Dystrophy. The muscle protein associated with the gene abnormality is known as the Dystrophin. In some of muscular dystrophy, the protein is being produced but it’s either not clear or is of very poor quality. However scientists are still working to discover the genetic defects causing other forms of muscular dystrophy.
Symptoms:
Duchenne muscular dystrophy
This type of muscular dystrophy is the most common among children. The majority of individuals affected are boys. It’s rare for girls to develop it. The symptoms include:
-trouble walking
-loss of reflexes
-difficulty standing up
-poor posture
-bone thinning
-scoliosis, which is an abnormal curvature of your spine
-mild intellectual impairment
-breathing difficulties
-swallowing problems
-lung and heart weakness
People with Duchenne muscular dystrophy typically require a wheelchair before their teenage years. The life expectancy for those with this disease is late teens or 20s.
Becker muscular dystrophy
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.
Other symptoms of Becker muscular dystrophy include:
-walking on your toes
-frequent falls
-muscle cramps
-trouble getting up from the floor
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.
Congenital muscular dystrophy
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. Symptoms vary and may include:
-muscle weakness
-poor motor control
-inability to sit or stand without support
-scoliosis
-foot deformities
-trouble swallowing
-respiratory problems
-vision problems
-speech problems
-intellectual impairment
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.
Myotonic dystrophy
Myotonic dystrophy is also called Steinert’s disease or dystrophia myotonica. This form of muscular dystrophy causes myotonia, which is an inability to relax your muscles after they contract. Myotonia is exclusive to this type of muscular dystrophy.
Myotonic dystrophy can affect your:
-facial muscles
-central nervous system
-adrenal glands
-heart
-thyroid
-eyes
-gastrointestinal tract
Symptoms most often appear first in your face and neck. They include:
-drooping muscles in your face, producing a thin, haggard look
-difficulty lifting your neck due to weak neck muscles
-difficulty swallowing
-droopy eyelids, or ptosis
-early baldness in the front area of your scalp
-poor vision, including cataracts
-weight loss
-increased sweating
This dystrophy type may also cause impotence and testicular atrophy in males. In women, it may cause irregular periods and infertility.
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.
Facioscapulohumeral (FSHD)
Facioscapulohumeral muscular dystrophy (FSHD) is also known as Landouzy-Dejerine disease. This type of muscular dystrophy affects the muscles in your face, shoulders, and upper arms. FSHD may cause:
-difficulty chewing or swallowing
-slanted shoulders
-a crooked appearance of the mouth
-a wing-like appearance of the shoulder blades
A smaller number of people with FSHD may develop hearing and respiratory problems.
FSHD 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.
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy causes weakening of the muscles and a loss of muscle bulk. This type of muscular dystrophy usually begins in your shoulders and hips, but it may also occur in your legs and neck. You may find it hard to get up out of a chair, walk up and down stairs, and carry heavy items if you have limb-girdle muscular dystrophy. You may also stumble and fall more easily.
Limb-girdle muscular dystrophy affects both males and females. Most people with this form of muscular dystrophy are disabled by age 20. However, many have a normal life expectancy.
Oculopharyngeal muscular dystrophy (OPMD)
Oculopharyngeal muscular dystrophy causes weakness in your facial, neck, and shoulder muscles. Other symptoms include:
-drooping eyelids
-trouble swallowing
-voice changes
-vision problems
-heart problems
-difficulty walking
OPMD occurs in both men and women. Individuals usually receive diagnoses in their 40s or 50s.
Distal muscular dystrophy
Distal muscular dystrophy is also called distal myopathy. It affects the muscles in your:
-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.
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy tends to affect more boys than girls. This type of muscular dystrophy usually begins in childhood. The symptoms include:
-weakness in your upper arm and lower leg muscles
-breathing problems
-heart problems
-shortening of the muscles in your spine, neck, ankles, knees, and elbows
Most individuals with Emery-Dreifuss muscular dystrophy die in mid-adulthood from heart or lung failure.