A muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle. There are many kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood, mostly in boys. Other types don’t surface until adulthood. There’s no cure for muscular dystrophy. But medications and therapy can help manage symptoms and slow the course of the disease.
The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.
Duchenne type muscular dystrophy
This is the most common form. Although girls can be carriers and are mildly affected, it’s much more common in boys. Signs and symptoms, which typically appear in early childhood, might include:
- Frequent falls
- Difficulty rising from a lying or sitting position
- Trouble running and jumping
- Waddling gait
- Walking on the toes
- Large calf muscles
- Muscle pain and stiffness
- Learning disabilities
- Delayed growth
Becker muscular dystrophy
Signs and symptoms are similar to those of Duchenne muscular dystrophy but tend to be milder and progress more slowly. Symptoms generally begin in the teens but might not occur until the mid-20s or later.
Other types of muscular dystrophy
Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms begin. Examples include:
- Myotonic. This is characterized by an inability to relax muscles following contractions. Facial and neck muscles are usually the first to be affected. People with this form typically have long, thin faces; drooping eyelids; and swanlike necks.
- Facioscapulohumeral (FSHD). Muscle weakness typically begins in the face, hip, and shoulders. The shoulder blades might stick out like wings when arms are raised. Onset usually occurs in the teenage years but can begin in childhood or as late as age 50.
- Congenital. This type affects boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.
- Limb-girdle. Hip and shoulder muscles are usually affected first. People with this type of muscular dystrophy might have difficulty lifting the front part of the foot and so might trip frequently. Onset usually begins in childhood or the teenage years.
When to see a doctor
Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in you or your child.
Certain genes are involved in making proteins that protect muscle fibers. Muscular dystrophy occurs when one of these genes is defective. Each form of muscular dystrophy is caused by a genetic mutation particular to that type of disease. Most of these mutations are inherited.
Muscular dystrophy occurs in both sexes and in all ages and races. However, the most common variety, Duchenne, usually occurs in young boys. People with a family history of muscular dystrophy are at higher risk of developing the disease or passing it on to their children.
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). Contractures can 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.
- Muscle weakness.
- Difficulty walking.
- Frequent falling.
- Difficulty getting up from a lying or sitting position.
- Limited movement at certain joints (called contracture)
- Heart problems.
- Problems with breathing and swallowing.
- Muscle pain or stiffness.
- Diagnosis (infancy/childhood)
- Early ambulatory (childhood)
- Late ambulatory (late childhood/adolescent/young adult)
- Early non-ambulatory (adolescent/young adult)
- Late non-ambulatory (adult)
These might include:
- A muscle biopsy (the removal and exam of a small sample of muscle tissue)
- DNA (genetic) testing.
- Electromyography or nerve conduction tests (which use electrodes to test muscle and/or nerve function)
It usually starts when a child is between ages 2 and 5. Symptoms of Duchenne muscular dystrophy include Muscle weakness that begins in the hips, pelvis, and legs. Difficulty standing.
|Type||Age at onset||Symptoms, rate of progression, and life expectancy|
|Becker||adolescence to early adulthood||Symptoms are almost identical to Duchenne but less severe; progresses more slowly than Duchenne; survival into middle age. As with Duchenne, the disease is almost always limited to males.|
|Congenital||birth||Symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span.|
|Duchenne||2 to 6 years||Symptoms include general muscle weakness and wasting; which affects the pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond the 20s is rare. Seen in boys only. Very rarely can affect women, who have much milder symptoms and a better prognosis.|
|Distal||40 to 60 years||Symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progression is slow; rarely leads to total incapacity.|
|Emery-Dreifuss||childhood to early teens||Symptoms include weakness and wasting of shoulder, upper arm, and shin muscles; joint deformities are common; progression is slow; sudden death may occur from cardiac problems.|
|Facioscapulohumeral||childhood to early adults||Symptoms include facial muscle weakness and weakness with some wasting of shoulders and upper arms; progression is slow with periods of rapid deterioration; life span may be many decades after onset.|
|Limb-Girdle||late childhood to middle age||Symptoms include weakness and wasting, affecting the shoulder girdle and pelvic girdle first; progression is slow; death is usually due to cardiopulmonary complications.|
|Myotonic||20 to 40 years||Symptoms include weakness of all muscle groups accompanied by delayed relaxation of muscles after contraction; affects the face, feet, hands, and neck first; progression is slow, sometimes spanning 50 to 60 years.|
|Oculopharyngeal||40 to 70 years||
Symptoms affect the muscles of the eyelids and throat causing the weakening of throat muscles, which, in time, causes the inability to swallow and emaciation from lack of food; progression is slow.
What are other neuromuscular diseases?
- Spinal muscular atrophies
- Amyotrophic lateral sclerosis (ALS), or motor neuron disease
- Infantile progressive spinal muscular atrophy
- Intermediate spinal muscular atrophy
- Juvenile spinal muscular atrophy
- Adult spinal muscular atrophy
- Inflammatory myopathies
- Inclusion body myositis
- Diseases of peripheral nerve
- Charcot-Marie Tooth disease
- Dejerine-Sottas disease
- Friedreich’s ataxia
- Diseases of the neuromuscular junction
- Myasthenia gravis
- Lambert-Eaton syndrome
- Metabolic diseases of the muscle
- Acid maltase deficiency
- Carnitine deficiency
- Carnitine palmityl transferase deficiency
- Debrancher enzyme deficiency
- Lactate dehydrogenase deficiency
- Mitochondrial myopathy
- Myoadenylate deaminase deficiency
- Phosphorylase deficiency
- Phosphofructokinase deficiency
- Phosphoglycerate kinase deficiency
- Less common myopathies
- Central core disease
- Hyperthyroid myopathy
- Myotonia congenita
- Myotubular myopathy
- Nemaline myopathy
- Paramyotonia congenita
- Periodic paralysis-hypokalemic-hyperkalemic
Massage Therapy Can Ease Symptoms of Muscular Dystrophy
- Massage reduces muscle pain and soreness. …
- Massage relieves stress and anxiety. …
- Massage can help you sleep better. …
- Massage can improve your immune function. …
- Massage can increase your flexibility and range of motion.
- Stress Relief. Deep tissue massage is a great stress reliever. …
- Reduces Pain. …
- Lowers Blood Pressure and Heart Rate. …
- Breaks Up Scar Tissue & Makes Movement Easier. …
- Reduces Arthritis Symptoms. …
- Rehabilitates Injured Muscles. …
- Helps With Labor and Delivery.
- 1) Manage anxiety and depression. Massage therapy reduces your levels of cortisol, a stress hormone, and boosts the production of serotonin and dopamine. …
- 2) Ease pain. …
- 3) Improve sleep. …
- 4) Boost immunity. …
- 5) Beat PMS. …
- 6) Raise alertness. …
- 7) Stop headaches. …
- 8) Prolong your youthful glow.
In general, those who choose massage therapy as a profession share a genuine desire to help people. Wanting to help others is the cornerstone of compassion, defined by freedictionary.com as “deep awareness of the suffering of another coupled with the wish to relieve it.” When it comes to relieving the suffering caused by muscular dystrophy, massage therapists have the opportunity of a lifetime.
Describing over 30 genetic diseases characterized by progressive weakness and skeletal muscle degeneration, muscular dystrophy (MD) can occur in infancy, childhood, or adulthood. The disorders differ in terms of the distribution and extent of muscle weakness, age of onset, rate of progression, and pattern of inheritance.
The primary types of MD include:
Duchenne – This is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe.
Becker–Becker MD is very similar to but less severe than Duchenne MD. Those afflicted with Becker MD have faulty or not enough dystrophin. This form generally affects older boys and young men, and progresses more slowly, usually over several decades.
Facioscapulohumeral – Also known as Landouzy-Dejerine disease, this form of MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, shoulders, and chest. It progresses slowly and can vary in symptoms from mild to disabling.
Myotonic – Also known as Steinert’s disease, this MD is the most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD typically exhibit long, thin faces, drooping eyelids, and a swan-like neck.
Both the Duchenne and Becker forms of MD revolve around a problem with, or the absence of, the protein dystrophin. Dystrophin is necessary for normal muscle tissue function. Here is a quick refresher to help place dystrophin’s role in muscle physiology. Myosin, the muscle’s thick filament, pulls on actin, the thin filament, by swiveling its head. This causes the actin to slide towards the M line, (the center of the muscle’s sarcomere), shortening the muscle. Dystrophin has many spider-like links to actin, attaching actin to the endomysium (part of the muscle’s tendon). Therefore, when actin slides towards the M line, the dystrophin pulls on the bone-surrounding endomysium, which ultimately creates movement. Therefore, a deficiency or lack of dystrophin has devastating effects on muscle movement, control, and health.
Signs and Symptoms
Signs and symptoms vary according to the type of muscular dystrophy. Typical symptoms include:
Lack of coordination
Involuntary muscle contractions
Loss of mobility
Many specific signs and symptoms vary among the different forms of MD. Each type is different in the age of onset, what parts of the body the symptoms primarily affect and how rapidly the disease progresses. For example, signs and symptoms unique to Duchenne MD may include:
Large calf muscles
Difficulty getting up from a lying or sitting position
Weakness in lower leg muscles, resulting in difficulty with running and jumping
Mild mental retardation (in some cases)
There is no specific treatment to stop or reverse any form of MD. Treatment plans are designed to help prevent or reduce deformities in the joints and spine and to allow people with MD to remain mobile as long as possible. While not curative, typical treatment approaches utilize medications, 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 muscle activity, immunosuppressants to delay damage to dying muscle cells, and antibiotics to fight respiratory infections.
A host of alternative treatments are often turned to for periodic, symptomatic relief for muscular dystrophy. In particular, massage therapy has been reported to ease a wide range of MD symptoms including:
Relieving muscle pain
Relaxing tight or contracted muscles
Increasing circulation in a deprived area
Restoring some range of motion
Since the goal of all bodywork is analogous to its application for muscular dystrophy, it almost appears massage is designed specifically for MD’s symptoms. While never intended to replace or supersede a physician’s advice, adding regular massage therapy sessions to an MD management plan can help reduce spasms, ease chronically tightened muscles, and improve the person’s quality of life. By seeking to help those with muscular dystrophy, a practitioner’s compassion can go a long, long way.
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