The muscular dystrophy (MD) is a group of over thirty genetic diseases differentiated by progressive degeneration and weakness of the skeletal muscles which control movement. It is a collection of inherited disorders which involve muscle weakness accompanied by loss of muscle tissue, and worsens over time. Various forms of Muscular Dystrophies are seen in childhood or infancy, while others might not appear until middle age or later. Muscular Dystrophies disorders vary in terms of the dissemination and extent of the muscle weakness, rate of progression, pattern of inheritance and age of onset. Some forms of Muscular Dystrophies also affect the cardiac muscle (Sarnat 611).
Duchenne Muscular Dystrophy is the most common form of this disorder. It primarily affects young boys. Duchenne MD is caused by absence of protein dystrophin, which is involved in sustaining the integrity of the muscle. The onset is between three and five years. The disorder progresses swiftly. The disorder makes affected boys to be unable to walk until they are twelve years. They later require a respirator to assist them in breathing. Probability of girls in these families to inherit the gene and pass it to their children is 50%. Becker Muscular Dystrophy is similar to Duchenne MD but is less severe. Boys with this disorder have faulty or insufficient dystrophin.
Facioscapulohumeral Muscular Dystrophy begins in the teenage years. This disorder causes progressive feebleness in muscles of the arms, legs, around the shoulders, chest and face. It progresses gradually and can differ in symptoms from gentle to disabling.
Myotonic Muscular Dystrophy is the most common Dystrophy in adult form. This disorder is characterized by prolonged muscle cataracts, spasms, endocrine disturbances and cardiac abnormalities. Individuals with myotonic Muscular Dystrophy have thin, long faces, swan-like neck and, drooping eyelids.
Causes, Incidence and Risk Factor
Muscular dystrophies are a collection of inherited conditions. This means that, they are passed down through families through genes. They can occur in childhood or adulthood. Several types of muscular dystrophy exist. They include:
- Myotonic dystrophy
- Myotonia congenita
- Emery-Dreifuss muscular dystrophy
- Limb-girdle muscular dystrophy
- Facioscapulohumeral muscular dystrophy
- Duchenne muscular dystrophy
- Becker muscular dystrophy
- Oculopharyngeal muscular dystrophy
- Distal muscular dystrophy
Symptoms differ with the varying types of the muscular dystrophy. The disorder can affect all muscles or only specific muscles. The most affected muscles are those around the face, shoulder or pelvis. Muscular dystrophy mostly affects babies and children but can also affect adults.
- Delayed development of muscles motor skills
- Difficulty in using one or more muscle or muscle groups
- Muscle weakness that gradually gets worse
- Mental retardation (in some types but not all)
- Eyelid drooping (ptosis)
- Frequent falls
- Loss in muscle size
- Loss of strength in a muscles or group of muscles
- Problems walking or delayed walking
Signs and Tests
A physical inspection and your medical antiquity will assist the doctor conclude the category of muscular dystrophy (Bushby 78). Precise muscle categories are impacted by different kinds of muscular dystrophy. The physicians’ exam might indicate:
- Strangely bowed spine or scoliosis
- Joint contractures that includes clubfoot and clawhand
- Hypotonia or Low muscle tone
Some varieties of muscular dystrophy encompass heart muscle, resulting to arrhythmias (disturbed heart rhythm) or cardiomyopathy. Usually, there is a harm of muscle mass or wasting, which can be hard to note because some varieties of muscular dystrophy results in a buildup of connective tissue and fat that causes the muscle look bigger. This is known as pseudohypertrophy. A muscle biopsy can be employed to ratify the diagnosis. In various cases, DNA blood tests may be what are necessary. Other tests might include:
- Heart testing - electrocardiography (ECG)
- Blood testing - including CPK level
- Nerve testing - electromyography (EMG)
- Genetic examination for some categories of muscular dystrophy
This disease can also alter the outcomes of the following examinations:
- Myoglobin - blood and urine
There are no recognized cures for the numerous muscular dystrophies. The objective of treatment is to regulate symptoms. Treatments include respiratory therapy, corrective orthopedic surgery, physical therapy and speech therapy. Drug therapy include corticosteroids which slow muscle degeneration, immunosuppressants, which delay damage in dying cells, anticonvulsants which control seizures and antibiotics to prevent respiratory infections. Assistive technology and occupational are also applied in extreme conditions. Some patients require pacemaker for the cardiac abnormalities and assisted ventilation for treating muscle weakness. Physical therapy can help patients uphold muscle function and strength. Orthopedic appliances like wheelchairs and braces can improve self-care and mobility abilities. In various cases, surgeries on legs or spine it may assist improve functions. Corticosteroids engaged by mouth are in various cases recommended to children to maintain them ambulatory for as long as they can. The person must be very active as they can. Complete inactivity like bed rest can cause the disease to be even worse.
You can affluence the stress of infection by joining a support group, where members disclose common problems and experiences. Such support groups may include Muscular dystrophy support groups.
The sternness of disability is contingent on the category of muscular dystrophy. Entire varieties of muscular dystrophy gradually get harsh, but how rapid this happens extensively varies. Some categories of muscular dystrophy, like the Duchenne muscular dystrophy, are highly deadly. Other types impacts little disability, and persons with them only have the normal lifespan.
- Cardiomyopathy associated with heart failure
- Decreased ability to care for self
- Decreased movement
- Lung failure Depression
- Tightening of muscles around the joints (contractures)
- Mental impairment (varies)
Calling your health care provider
You should contact your health care supporter if:
- You have indicators of muscular dystrophy.
- You own a family or personal history of muscular dystrophy, and you and your partner are planning to bare children.
Generally, genetic counseling is highly advised when there are family antiquities of muscular dystrophy. Mostly, women can have no sign and symptoms, but still lug the gene for this disorder. Duchenne muscular dystrophy may be distinguished with almost 95% precision by genetic studies accomplished in the duration of pregnancy.
What researches are being conducted?
The NINDS funds a broad sequencer of research study regarding MD. The objectives of this study are to comprehend MD, and to cultivate systems and means to diagnose, prevent, treat as well as ultimately antinode the disorder. Thus, the NINDS is a key member of the MDCC (Muscular Dystrophy Coordinating Committee). As with various genetic diseases, an effective and successful treatment has already been discovered. However, research is presently making huge strides regarding treatments and genetic engineering which might be available in the next few decades. For the meantime, patients are often counseled to maintain their muscles in proper shape by making multiple exercises by the use of specific workouts and training, and experience medical treatment like orthopedic surgery and medicine administration.