Other Names
Hereditary myopathy, DM
Definition
Is a group of disorders involving muscle weakness and loss of muscle that worsens over time.
Causes, incidence and risk factors Back to top
Many diseases called muscular dystrophies are inherited disorders, such as:
Becker muscular dystrophy *
* Duchenne Muscular Dystrophy
* Muscular Dystrophy Emery-Dreifuss
* Facioscapulohumeral muscular dystrophy
* Muscular Dystrophy waist or pelvic escapulohumeral
* Congenital myotonia
* Myotonic dystrophy
Symptoms
The symptoms vary with different types of muscular dystrophy.
All muscles can be affected or only specific groups of muscles such as those around the pelvis, shoulders or face. Muscular dystrophy can affect adults, but severe forms tend to occur in early childhood.
Symptoms include:
* Intellectual retardation (only present in some types of the disorder)
* Muscle weakness that slowly gets worse
or delayed development of muscle motor skills
or difficult to use one or more muscle groups
or drooling
or droopy eyelid (ptosis)
or frequent falls
or problems walking (delayed walking)
Signs and tests
The examination and medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophies.
Signs may include:
* Curved spine (scoliosis)
* Contractures articular (clubfoot, hand grip or other)
* Low muscle tone (hypotonia)
Some types of muscular dystrophy compromise the heart muscle, causing cardiomyopathy or heart rhythm disturbance (arrhythmia).
Often there is a loss of muscle mass (atrophy) that may be hard to see because some types of muscular dystrophy cause a buildup of fat and connective tissue that makes the muscle look bigger, which is called seudohipertrofia.
A muscle biopsy can be used to confirm the diagnosis and, in some cases, the blood test used to analyze DNA may be all that is needed.
Other tests may include:
* Electrocardiography (ECG)
* Electromyography (EMG)
* Creatine kinase in serum
This disease may also alter the results of the following tests:
* Aldolase
* AST
* Creatinine
* LDH
* Myoglobin in urine / serum
Treatment
There is no known cure for the various muscular dystrophies and the treatment is to control symptoms.
Physiotherapy can help patients maintain muscle strength and functioning. Orthopedic devices such as braces and wheelchairs can improve mobility and ability to self-care. In some cases, surgery of the spine or legs may help improve function.
Sometimes oral corticosteroids are prescribed for children in order to keep walking as long as possible.
The person must be as active as possible because the complete inactivity (such as bed rest) can make the disease worse.
Support Groups
The stress caused by a disease can be relieved by joining a support group where members share common experiences and problems. See support groups for muscular dystrophy.
Expectations (prognosis) Back to Top
The severity of disability depends on the type of muscular dystrophy. All types of dystrophy slowly get worse, but how fast this happens is something that varies widely.
Some types of muscular dystrophy, including Duchenne, are fatal. Other cause little disability and the people who have suffered a period of normal life.
Complications
Cardiomyopathies *
* Decreased ability to care for himself
* Decreased mobility
* Joint Contractures
* Mental impairment (varies)
* Respiratory failure
* Scoliosis
Situations requiring medical assistance
Consult your doctor if:
* You have symptoms of muscular dystrophy.
* Has a personal or family history of muscular dystrophy and is planning to have kids.
Prevention
Genetic counseling is recommended when there is a family history of muscular dystrophy. Women may be asymptomatic, but be carriers of the gene that causes the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
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