Saturday, June 4, 2011

A genetic deficiency in the muscle protein dystrophin causes the more common forms of muscular dystrophy. –Physiotherapist- Rajarajan.

‘A genetic deficiency in the muscle protein dystrophin causes the more common forms of muscular dystrophy’ said Physiotherapist Rajarajan, of SEVAI Myopathy centre situated in SEVAI Allur in Trichy. Physiotherapist Deivakumar while addressing the special educators for disabled children for all disabilities added that SEVAI had identified 132 persons affected by muscular dystrophy in Trichy District and it is important that special educators and parents are to know the biggest key to dealing with this illness is knowledge and to work closely with the doctor, physiotherapists to best manage symptoms and Treatment can help the patient stay as functional as possible for as long as possible. Physiotherapist Deivakumar added “nearly everyone has heard of muscular dystrophy. Many people likely do not know what causes the condition. It is important to know about this disorder, to learn the cause, to find out about the symptoms, to find out how muscular dystrophy is diagnosed and to learn what can be done to treat the condition. Muscular dystrophy is an inherited group of diseases in which muscle tissue is very susceptible to damage. This results in the muscles getting progressively weaker. In the later stages of the condition, fat and connective tissue often will replace muscle tissue. Sometimes some forms of muscular dystrophy causes problems of the heart, other organs and involuntary muscles. Muscular dystrophy is an inherited illness. Each form of the condition results from a different specific genetic mutation. A genetic deficiency in the muscle protein dystrophin causes the more common forms of muscular dystrophy. The genes for both Duchenne's and Becker's muscular dystrophy are passed from mother to son. Occasionally the defect is new and not passed from the mother. Some other types can be passed from generation to generation and affect both sexes. Still others will only manifest if the gene comes from both mother and father. There are many possible symptoms of muscular dystrophy. These symptoms can vary by type. General symptoms may include muscle weakness, lack of coordination. Progressive crippling resulting in contractures, other symptoms are more specific to the type of muscular dystrophy the person has. The symptoms particular to Duchenne's muscular dystrophy are frequent falls, large calf muscles, trouble when rising from sitting or lying down, weakness in the lower legs, gait is abnormal and mild mental retardation. These symptoms appear around age two or three. These patients are often unable to walk by late childhood. Most die in their 20s or 30s due to complications. In myotonic muscular dystrophy, the muscle weakness of other dystrophies is present as is muscle stiffness. This form often isn't evident until adulthood. Symptoms include weakening of voluntary muscles that control arms and legs, weak muscles in the neck, Muscles involved in breathing and swallowing get weaker, other muscle. There is no cure for any form of muscular dystrophy. There are many treatments, including physical therapy, medications, assistive devices, surgery”.
Physiotherapist Rajarajan further said “Duchenne muscular dystrophy is inherited in an X-linked recessive pattern. A disease is considered X-linked if the defective gene that causes the condition is located on the X chromosome. Duchenne muscular dystrophy is usually passed from mother to son through one of the mother's genes. The mother passes on the defective DMD gene which is located on the X chromosome. Boys inherit an X chromosome from their mother and a Y chromosome from their father. Girls inherit an X chromosome from their mother and an X chromosome from their father. The X-Y or X-X combination is what determines the sex of a child. Males have one Y and one X chromosome; a defective copy of the X chromosome will likely cause muscular dystrophy. Females have two X chromosomes; a defective mutation must be present in both copies of the X gene to cause muscular dystrophy. If a female has one defective gene and one unaffected gene, they usually will not experience symptoms. The unaffected X gene usually will produce enough dystrophin to keep the muscles working effectively. However, there are a few females with one defective gene who experience mild muscle weakness and fatigue symptoms. These females usually exhibit very mild muscular weakness and usually do not have any other long-term complications. The sons of female carriers (women who have one defective DMD gene) each have a 50% chance of having the disease. The daughters of female carriers each have a 50% chance of becoming carriers. Approximately two thirds of all individuals with Duchenne muscular dystrophy inherit the defective gene from their mother. The other one third usually develops a new mutation of the DMD”-Govin

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