How can muscular dystrophy be prevented

Muscles are made up of thousands of muscle fibers. Each fiber is actually a number of individual cel How many people are affected with muscular dystrophy MD? Muscular dystrophy MD occurs worldwide, affecting all races. Its incidence varies, as some forms a They tend to have large calves, and waddle when they walk. With aggressive treatment, most can walk until about age 12, but death usually occurs before adulthood. These boys often also have heart disease.

Learning disability or mental retardation are some of the many other symptoms common in this condition. The progressive course may take more than twice as long, but the progress is still relentless.

Children with limb-girdle muscular dystrophy appear normal until the school years or even into young adulthood. Weakness develops first in the muscles close to the trunk—around the shoulders and hips.

Most can walk until about age Enlargement of the calf muscles is also common in this condition. Intellectual growth is normal. Children with Enery-Dreifuss muscular dystrophy usually appear healthy until school age. Weakness around the elbows and the ankles is often the first sign. Enlargement of the calf muscles does not occur.

Children with congenital muscular dystrophies are noticeably weak at the time of birth. Nevertheless, these tend to be milder forms of muscular dystrophy with a slowly progressive course. Facioscapulohumeral muscular dystrophy also appears in young babies.

The earliest signs are weakness of the face and shoulder muscles. The eyes are often open during sleep. Myotonic muscular dystrophy may also have symptoms in the first few years, including an upper lip shaped like an upside-down V. Muscles of the face and fingers usually show weakness first. Your child may also need care from other providers such as cardiologists, pulmonologists, and physical therapists.

DMD has no cure, but many supportive treatments can help manage the condition. Some possible treatments for children with DMD include:. Breathing devices. These can help your child get enough air. Many people with DMD sleep with a breathing machine mask at night. Your child may also need a tracheostomy device. Range-of-motion exercises. These can help your child stay flexible and limit contractures of the joints.

Gentle exercise like water exercises may be safe. Surgery can ease contractures or straighten a curved spine. But children with DMD have extra risks with anesthesia. DNA-targeted medicine. It can help with muscle weakness and atrophy. Only a small portion of people with DMD may be helped with this medicine. Advances in care have improved the life expectancy for people with DMD. Researchers are working on developing new medicines. In addition to muscle weakness throughout the body, DMD can cause serious problems for the heart and lungs.

Your child may need these tests:. But if DMD runs in your family, you may consider talking with a genetic counselor and getting testing before having children.

If you or your partner has the DMD change, you may decide to check your fertilized eggs and only implant those that do not have DMD. If you or your partner recently got pregnant, you can also choose to test the fluid outside the fetus to see if the fetus has DMD. Your child may need healthcare providers that can help with the neuromuscular, orthopedic, respiratory, and heart problems of DMD. Your family may get help from social and mental health support. Congenital MD refers to a group of autosomal recessive muscular dystrophies that are either present at birth or become evident before age 2.

They affect both boys and girls. The degree and progression of muscle weakness and degeneration vary with the type of disorder.

Weakness may be first noted when children fail to meet landmarks in motor function and muscle control. Muscle degeneration may be mild or severe and is restricted primarily to skeletal muscle. The majority of individuals are unable to sit or stand without support, and some affected children may never learn to walk. There are three groups of congenital MD:. People with congenital MD may develop contractures chronic shortening of muscles or tendons around joints, which prevents the joints from moving freely , scoliosis, respiratory and swallowing difficulties, and foot deformities.

Some individuals have normal intellectual development while others become severely impaired. Weakness in diaphragm muscles may lead to respiratory failure. Congenital MD may also affect the central nervous system, causing vision and speech problems, seizures, and structural changes in the brain.

Some children with the disorders die in infancy while others may live into adulthood with only minimal disability. Distal MD , also called distal myopathy, describes a group of at least six specific muscle diseases that primarily affect distal muscles those farthest away from the shoulders and hips in the forearms, hands, lower legs, and feet. Distal dystrophies are typically less severe, progress more slowly, and involve fewer muscles than other forms of MD, although they can spread to other muscles, including the proximal ones later in the course of the disease.

Distal MD can affect the heart and respiratory muscles, and idividuals may eventually require the use of a ventilator. Affected individuals may not be able to perform fine hand movement and have difficulty extending the fingers. As leg muscles become affected, walking and climbing stairs become difficult and some people may be unable to hop or stand on their heels. Onset of distal MD, which affects both men and women, is typically between the ages of 40 and 60 years.

In one form of distal MD, a muscle membrane protein complex called dysferlin is known to be lacking. Although distal MD is primarily an autosomal dominant disorder, autosomal recessive forms have been reported in young adults.

Symptoms are similar to those of Duchenne MD but with a different pattern of muscle damage. An infantile-onset form of autosomal recessive distal MD has also been reported. Slow but progressive weakness is often first noticed around age 1, when the child begins to walk, and continues to progress very slowly throughout adult life. Emery-Dreifuss MD primarily affects boys. The disorder has two forms: one is X-linked recessive and the other is autosomal dominant.

Onset of Emery-Dreifuss MD is usually apparent by age 10, but symptoms can appear as late as the mid-twenties. This disease causes slow but progressive wasting of the upper arm and lower leg muscles and symmetric weakness. Contractures in the spine, ankles, knees, elbows, and back of the neck usually precede significant muscle weakness, which is less severe than in Duchenne MD.

Contractures may cause elbows to become locked in a flexed position. The entire spine may become rigid as the disease progresses. Other symptoms include shoulder deterioration, toe-walking, and mild facial weakness. Serum creatine kinase levels may be moderately elevated.

Nearly all people with Emery-Dreifuss MD have some form of heart problem by age 30, often requiring a pacemaker or other assistive device. Female carriers of the disorder often have cardiac complications without muscle weakness. Affected individuals often die in mid-adulthood from progressive pulmonary or cardiac failure. In some cases, the cardiac symptoms may be the earliest and most significant symptom of the disease, and may appear years before muscle weakness does.

Facioscapulohumeral MD FSHD initially affects muscles of the face facio , shoulders scapulo , and upper arms humera with progressive weakness. Also known as Landouzy-Dejerine disease, this third most common form of MD is an autosomal dominant disorder.

Most individuals have a normal life span, but some individuals become severely disabled. Disease progression is typically very slow, with intermittent spurts of rapid muscle deterioration. Onset is usually in the teenage years but may occur as early as childhood or as late as age One hallmark of FSHD is that it commonly causes asymmetric weakness.

Muscles around the eyes and mouth are often affected first, followed by weakness around the shoulders, chest, and upper arms. A particular pattern of muscle wasting causes the shoulders to appear to be slanted and the shoulder blades to appear winged. Muscles in the lower extremities may also become weakened. Reflexes are diminished, typically in the same distribution as the weakness. Changes in facial appearance may include the development of a crooked smile, a pouting look, flattened facial features, or a mask-like appearance.

Some individuals cannot pucker their lips or whistle and may have difficulty swallowing, chewing, or speaking. In some individuals, muscle weakness can spread to the diaphragm, causing respiratory problems. Other symptoms may include hearing loss particularly at high frequencies and lordosis , an abnormal swayback curve in the spine.

Contractures are rare. Some people with FSHD feel severe pain in the affected limb. Cardiac muscles are not usually affected, and significant weakness of the pelvic girdle is less common than in other forms of MD. An infant-onset form of FSHD can also cause retinal disease and some hearing loss. Limb-girdle MD LGMD refers to more than 20 inherited conditions marked by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips.

At least 5 forms of autosomal dominant limb-girdle MD known as type 1 and 17 forms of autosomal recessive limb-girdle MD known as type 2 have been identified. Some autosomal recessive forms of the disorder are now known to be due to a deficiency of any of four dystrophin-glycoprotein complex proteins called the sarcoglycans. Deficiencies in dystroglycan, classically associated with congenital muscular dystrophies, may also cause LGMD.

The recessive LGMDs occur more frequently than the dominant forms, usually begin in childhood or the teenage years, and show dramatically increased levels of serum creatine kinase. The dominant LGMDs usually begin in adulthood. In general, the earlier the clinical signs appear, the more rapid the rate of disease progression.

Limb-girdle MD affects both males and females. Some forms of the disease progress rapidly, resulting in serious muscle damage and loss of the ability to walk, while others advance very slowly over many years and cause minimal disability, allowing a normal life expectancy. In some cases, the disorder appears to halt temporarily, but progression then resumes.

Weakness is typically noticed first around the hips before spreading to the shoulders, legs, and neck. Individuals develop a waddling gait and have difficulty when rising from chairs, climbing stairs, or carrying heavy objects. They fall frequently and are unable to run. Contractures at the elbows and knees are rare but individuals may develop contractures in the back muscles, which gives them the appearance of a rigid spine. Proximal reflexes closest to the center of the body are often impaired.

Some individuals also experience cardiomyopathy and respiratory complications, depending in part on the specific subtype. Intelligence remains normal in most cases, though exceptions do occur. Many individuals with limb-girdle MD become severely disabled within 20 years of disease onset. Myotonic dystrophy DM1 , also known as Steinert's disease and dystrophia myotonica, is another common form of MD.

Myotonia , or an inability to relax muscles following a sudden contraction, is found only in this form of MD, but is also found in other non-dystrophic muscle diseases. People with DM1 can live a long life, with variable but slowly progressive disability. Typical disease onset is between ages 20 and 30, but childhood onset and congenital onset are well-documented. Muscles in the face and the front of the neck are usually first to show weakness and may produce a haggard, "hatchet" face and a thin, swan-like neck.

Wasting and weakness noticeably affect forearm muscles. DM1 affects the central nervous system and other body systems, including the heart, adrenal glands and thyroid, eyes, and gastrointestinal tract. Other symptoms include cardiac complications, difficulty swallowing, droopy eyelids called ptosis , cataracts, poor vision, early frontal baldness, weight loss, impotence, testicular atrophy, mild mental impairment, and increased sweating.

Individuals may also feel drowsy and have an excess need to sleep. There is a second form of the disease that is similar to the classic form, but usually affects proximal muscles more significantly. This form is known as myotonic dystrophy type 2 DM2. This autosomal dominant disease affects both men and women. Females may have irregular menstrual periods and are sometimes infertile. The disease may occur earlier and be more severe in successive generations.

A childhood-onset form of myotonic MD may become apparent between ages 5 and