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What is Muscular Dystrophy? |
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Symptoms
Muscular dystrophy is a condition which belongs to a class of congenital diseases, wherein the muscle suffers a high susceptibility to injury. These become weak at a progressive rate (particularly the voluntary muscles). In later phases, fatty and connecting tissues take the place of the muscle fibers. General symptoms of the condition may involve muscle feebleness, a visible lack of body coordination, and crippling, contractures, or immobility which develops progressively. Dystrophinapathies cover for a number of numerous disease subtypes, and the symptoms between them vary widely. The symptoms previously described may also be felt at the upper body, at the facial and throat areas, and at the outer limbs, or the condition may be congenital in nature, causing chronic muscle feebleness and deformation of the joints.
Causes
The cause of the condition is a defective gene which can be inherited from either parent. Though the most prevalent types of muscular dystrophy occur as a result of a genetic dysfunction of dystrophin, a muscle protein, other forms of the illness are caused by genetic mutations which are particular to the disease type. Duchenne’s or Becker’s condition is passed on from a mother to the male offspring via one of the former’s genes, through a pattern referred to as X-linked recessive inheritance. Males normally inherit an X-Y pair of chromosomes from the mother and father, respectively, and the gene defect which is responsible for the condition is found on the X chromosome. On the other hand, a child whose parent carries a gene defect associated with myotonic dystrophy has a fifty percent risk for inheriting the disease.
Diagnosis
Since muscular dystrophy is a genetic condition, a thorough assessment of the patient’s family medical history is essential to obtaining a diagnosis, as supplemented by several diagnostic tests. High levels of an enzyme like creatine kinase hint of the condition, as detected by blood tests. The muscle’s response to electrical stimulation may also be assessed through electromyography, or high-frequency sound emissions are employed to obtain an image of the tissues (ultrasonography). The condition may also be isolated from other diseases with a muscle biopsy, wherein sample tissue is examined for the purpose of detecting dystrophin, an indication of muscular dystrophy. The doctor may also look for mutations in the patient’s gene through genetic testing.
Treatment Info
There is no actual cure for the disease, and treatment is opted for as a rehabilitative and preventive measure. Physical therapy is a normal part of treatment, since it aims to maintain joint flexibility and proper muscle functioning. Drugs may be prescribed to manage spasms and rigidity (symptoms indicative of myotonic dystrophy), or to improve muscle endurance and delay the development of Duchenne’s condition. In the meantime, mobility may be enhanced through braces which provide support for feeble limbs, these are also used to keep the joints flexed and mobile; a cane, walker, or wheelchair may be used for similar purposes as well. If the contractures have already formed, these may be eased through tendon release surgery, performed particularly on the hip and knee joints, as well as on the tendon just behind the ankles.
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