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| Sunday, 9 February 2003 |
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Features |  |
| News Business Features Editorial
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DMD: a sex linked disorder Muscular Dystrophy (DMD) is a disease that affects mostly male children. Although rare it is affecting a growing number of children in Sri Lanka. The following article discuses what this little known disease is all about... There are more than 20 specific genetic disorders considered to be Muscular Dystrophies. Most have the same result, a reduction in muscle strength due to weakening and deterioration.
All forms of Muscular Dystrophy are considered rare, but Duchenne Muscular Dystrophy is perhaps the most common of the Muscular Dystrophies in existence. Duchenne MD is not specific to any one group. All ethnic groups are equally susceptible to both Duchenne and Becker MD. But what often sets these two Muscular Dystrophies apart is that they occur mainly in boys (with very few exceptions), making it a sex-linked disorder. What causes Duchenne MD Within our gene makeup, there is a gene that is responsible for the production of an important muscle protein called 'dystrophin'. This particular gene is one of the largest genes found in our cells. Dystrophin acts as the glue that holds muscles together by maintaining the structure of muscle cells. Dystrophin is also believed to carry signals between the inside and outside of muscle fibres. Without dystrophin, muscles are not able to operate properly and will eventually suffer progressive damage. The dystrophin gene is carried on the X-chromosome. Boys are therefore more susceptible to dystrophin damage because they have only one X-chromosome. When a boy is affected by Duchenne MD, his body is not able to produce any dystrophin. In Becker MD, a distorted, oversized version of dystrophin is generated. In either disorder, muscle cells within the body gradually weaken and eventually die, due to lack of fully functional dystrophin. What does 'Dystrophy' mean? Guillaume Duchenne coined the word 'dystrophy' when he noticed that the muscles in some young boys were weakening and wasting away. He called it a dystrophy, after the Greek word roots, "dys" - meaning abnormal, diseased or faulty and - "trophy" which refers to nutrition or growth. Duchenne believed that dystrophy progressed as muscles continued to develop without the nutrients they needed. Currently there is no way to detect Duchenne or Becker MD at birth. Duchenne MD is typically diagnosed in boys between the ages of 3 and 7. Usually parents will notice that their son is behind other boys their age in developmental milestones. Often parents will notice that their son's calves appear to be enlarged (also called pseudohypertrophy), which is another indicator that may result in a Duchenne MD diagnosis. Boys between the ages of three and five (pre-school) may appear to be clumsy and will often lose their balance, causing them to fall down a lot during regular activity. Climbing stairs, running and rising up from the floor become very difficult. 'By school age, Duchenne MD causes contractures (loss of elasticity) in their Achilles tendons, which forces them to walk either on their toes or on the balls of their feet, resulting in a 'walk' that appears to be a waddle. Between the age of seven and 12, most boys with Duchenne MD will lose their ability to walk and depend on a wheelchair for mobility. Throughout the years that follow, all activities that call for the use of arms, legs or trunk muscles will require assistance. Fatigue is a problem for boys with Duchenne MD. If parents notice that their son grows excessively tired from everyday tasks e.g. Walking, Climbing stairs, they should consult a doctor. There are reliable tests available that will help doctors officially diagnose a boy with Duchenne MD. These tests are typically used to confirm a preliminary diagnosis of Duchenne MD. There is no way to stop Duchenne MD from progressing once a boy is born with the disorder. However once a child with Duchenne MD is born into a family, it is possible to offer prenatal diagnosis in future pregnancies, either for the mother or for other women in her family who may be at risk of being carriers of the damaged dystrophin gene on the X-Chromosome. After a boy is diagnosed with Duchenne MD, it is important to seek genetic advice and appropriate tests for those members of the family who are at risk of being carriers. Symptoms The progression of Duchenne MD leads to many physical symptoms that typically affect different portions of the body, including the back (spine), legs, feet, joints and tendons. The progression of symptoms (in order of occurrence) are: General Weakness, Overdeveloped Calves, Lordosis, Defects of the feet, Joint and Tendon Cord Elasticity, Scoliosis, Speech/Intellectual Handicaps, Respiratory Problems and general weakness and fatigue. General weakness: As Duchenne MD continues to weaken muscles, boys will often have to use their arms to get up from a sitting position. Overdeveloped Calves: DMD causes muscles to become permanently damaged. As this is happening there are other cells that may respond by producing fibrous connective tissue with fatty deposits. This increases the volume of the muscle and causes it to become enlarged due to a bulking of the muscle by fat, not by muscle cells. Lordosis is the curvature of the lumbar and cervical spine. As the back muscles of the boys with Duchenne MD become weaker, Lordosis cause their bodies to lean forward, and a curvature of the spine results. Often boys with Duchenne MD will have problems with their feet. This occurs as muscle weakness spreads and the Achilles tendons (heel cords that anchor the muscles at the back of the lower leg to the heel bone) are often contracted, pulling feet into an abnormal position and interfering with the ability to walk. Wearing of ankle-straightening splints at night may help to keep their feet straight. Joint and tendon restriction is another symptom that boys with Duchenne may suffer from. This is called 'contracture'. It typically affects the ankles first, followed by the hips and knees, and finally, the joints of the upper limbs. Physiotherapy and occupational therapy are often used to help offset this. Scoliosis is a three-dimensional curvature of the spine. Increasingly, boys who have Duchenne MD are turning to surgery to help straighten their spines. About one third of boys with Duchenne MD have some degree of a learning disability, although only a few have severe cases of retardation. Respiratory function usually remains normal until around age 10. Afterwards, respiratory muscle function may begin to decline. As Duchenne MD progresses, the diaphragm becomes weakened (due to scar tissue buildup) and breathing becomes more difficult. At the same time, muscles responsible for coughing are also growing weaker and are not able to support the diaphragm. This may allow a simple cold to quickly progress into pneumonia. During the teen years, in addition to skeletal muscle problems, boys with Duchenne MD will often develop heart muscle problems. Heart complications become the main threat to both health and life due to damage and loss of respiratory muscle. The muscle layer of the heart (called 'myocardium') begins to deteriorate, much like the skeletal muscles do. This puts the boys at risk of a heart attack. Major symptoms of myocardium include: shortness of breath, fluid in the lungs, or swelling in the feet and lower legs (caused by fluid retention). When symptoms of Duchenne MD are managed conventionally, boys with the disorder usually die from respiratory failure before they turn 25. It has been estimated that anywhere from 9 per cent to 50 per cent of those with Duchenne MD die from cardiac failure. Treatment Unfortunately no cure is available for this disease. Physiotherapy, Stretching exercises and orthopaedic splints will help to reduce the effects of contractures and may help prolong ambulation. Corticosteroid drugs like Prednisolone and Deflazacort are prescribed in developed countries as clinical trials have shown that these drugs enhance muscle strength thereby prolonging the period of ambulation. However, the risks of severe side effects have limited their use elsewhere. More information on DMD and BMD can be obtained through the Internet from www.parentprojectmd.org or write to DMD Parents' Organization, No. 70, Main Street, Dharga Town - 12090. Phone: 034-70151 E-mail:[email protected] Sent by:M. Hafiz Issadeen, President DMD Parents' Organisation, Sri
Lanka. Metaphysical causes of disease by Vaish Sathasivam The word metaphysical means to look further than the physical or tangible factors that define an entity. In terms of health the physical factors that shape it include pathogens, levels of chemicals in the blood stream, diet, environment etc. What about factors such as stress, grief anger or even loneliness? These in homoeopathic terms are the mental and emotional states of a patient that play an equal role in giving rise to illness. In other words your thoughts and emotions can influence the process of disease and degeneration. It logically follows then, that your thoughts and emotions can influence your recovery as well. This link between mind and body is not a new concept, just one that is often forgotten. Stress has become such a widely used term but do we know how it affects our well being? Let me first say that stress is a natural reaction of the body and prepares us for action. It is when the stress is unresolved that we experience symptoms. During a period of stress, a hormone called Adrenaline is released into the body. This hormone has a profound effect on various parts of the body, such as increasing breathing rate, heart rate and blood pressure in order to provide energy. It retards the digestive process so that more energy can be made available to the muscles. Therefore prolonged periods of, or chronic stress can damage the brain, heart, blood vessels, intestines, the immune system and the natural flow of energy within the body. The metaphysical causes of stress may be such things as worries concerning health, loss of money, death of a loved one and social pressures. These causes cannot be measured or seen but nonetheless have a profound effect on the body and mind. While healing the physical symptoms of stress, it is also important to treat the cause of the stress simultaneously. Homoeopathic remedies heal mind and body. To give you another example of how negative thoughts and emotions translate into symptoms, I will refer to Asthma. It is a disease of the respiratory system. Symptoms such as coughing, wheezing and shortness of breath arise from the obstruction of airflow into and out of the lungs. This is due to broncho-spasms, swelling (Oedema,) inflammation of the bronchial wall, scarring and increased secretion of mucus. Physical causations may include occupation, pollution, family history, exertion, and allergens. It is well recognised, now, that emotions can trigger these symptoms. Louise Hay in her book 'Heal Your Body' suggests that probable metaphysical causations of Asthma include unresolved guilt, feeling stifled and that it is an expression of suppressed crying. This is interesting with regard to the fact that, a patient suffering from Asthma has to cope with coughing up large amounts of phlegm. If the patient is unable to cry, then it might be interpreted that, the body seeks to release the emotion through the production of mucus. Alternatively we can say that physical symptoms give rise to mental and emotional states. For example if a patient were in constant pain, it is quite natural that depression or irritability are present. All symptoms reflect the inner turmoil, whether it be metaphysical,
physical or, as it tends to be in most cases, a combination of both. Thus
we cannot treat one to the exclusion of the other. It needs to be looked
at, as one whole. Dangerous sex and its effects Although STD's like syphilis, gonorrhoea, urethritis and cystitis can now be controlled with various antibiotics, their early detection and prevention is important to prevent life long complications.... Sexually transmitted diseases can be described as dangerously contagious diseases due to sexual contact. They include the following... Gonorrhoea is one such disease caused by the sexual contact of an infected male with a female or vice versa. It affects the mucus membrane of the Urethra in the male and the vagina in the female and later spreads to other parts of the body. The Gonorrhoea patient will have a yellowish-white discharge while passing urine, with dull pain. The glands near the organs will be enlarged. If it is not properly treated at this stage, it may go into the chronic stage producing a lot of complications. It will spread from one person to another via clothes, utensils etc. Syphilis is another sexually transmitted disease caused by sexual contact between a male with an infected female or vice-versa. The disease has three stages: primary, secondary and tertiary stage. It may be either acquired or inherited (congenital). Congenital syphilis results from syphilis in mother. Acquired syphilis is transmitted by direct contact. In a few instances infection has occurred from blood transfusion in which event the organisms are implanted directly into the blood stream. Symptoms Initially in the male, there will be hardening of the glans penis; if it is neglected it will go into the secondary stage. In the female, in the initial stage, it will not be noticeable at all. So it passes into the secondary or tertiary stage. In the secondary stage the patient notices an enlargement of the lymphnodes and nephritis, arthritis, condylomata in the anal margin, vulva, under the breasts and in the throat there may be red snail track, alopecia which may be general or local and jaundice. It reaches the tertiary stage with punches out ulcers, swelling in the muscles and bones and it will attack almost all the organs of the body. In case of congenital syphilis the child will die in the womb of the mother, before its birth or due to a miscarriage. The child may be both deformed, deaf or have a depressed nose etc. Organism of syphilis is Treponema Pallidum. The incubation period of - Treponema Pallidum is ten days to ten weeks. The Treponema Pallidum gains entry into the body through the abraded mucus membranes. The infection is usually contracted during sexual intercourse; occasionally it may be transmitted indirectly by using the infected articles or kissing etc. Investigation and the treatment is very important. Do not try external applications in the market without a prescription of a qualified medical officer. Blood examination known as VDRL (Venereal Disease Research Laboratory) is done by a qualified physician. When the test shows that VDRL is positive it means the presence of Treponima Pallidum. In Allopathic treatment, penicillin injections and antibiotic medicines are given to kill the Treponima Pallidum. This course of treatment may be helpful but it is not the complete treatment. The penicillin and anti-syphilis medicines mostly changed the report VDRL positive to VDRL-Negative. After the treatment, most patient suffer from itching, burning or painful urination due to the suppression of symptoms. Within a year, the suppression of symptoms gradually reduces the immunity of the body up to the final stage called ARC; means AIDS related complex. So, when you are undergoing the penicillin or other Allopathic treatment, never forget to take Homoeopathic treatment where you have the complete cure. Homoeopathically Merc. Sol; Merc. Bin-iod; Merc.Protoiod; Merc. Cor; Kali-iod; Hepar Sulp; Syphilinum etc.' are used in the treatment of syphilis. Diet - Rice, til-oil, meat soup, soup prepared from green gram and vegetable soup like - bitter gourd and milk (may be cow's or goat's) should be taken. The patient should not take butter milk, jaggery and should avoid sleeping during the day time. - Dr. Y. M. Mousoom, Homoeopathic and Unani Practitioner. Countering ill-effects of strokes via Homeopathy by A.M. Aboobucker Stroke is a popular term for apoplexy which is more commonly referred to cardiovascular accident (CVA). It is a serious condition in which brain damage results when the blood supply to any part of the brain is reduced or completely cut off due to haemorrhage (bleeding from a weakened artery into the brain), embolism (sudden blockage of an artery by a flake of material that has come adrift from a diseased artery or from the heart) or thrombosis (a more gradual blockage by clot-formation within a diseased artery of the brain.) Although strokes usually occur in middle-aged or older persons, they can occur at any age. In Sri Lanka Stroke is one of the most common causes of death. A stroke may be of slow or sudden onset. If slow, then the underlying lesion is most likely to be thrombotic, if rapid, embolic or haemorrhagic. A stroke caused by thrombosis or haemorrhage usually results from blood vessels that previously have been damaged by arteriosclerosis. Hypertension, infection injury and an aneurysm can also weaken an artery and thus lead to subsequent rupture. Hypertension is a great contributory factor in all three types of stroke. The signs and symptoms vary according to the duration, extent and site of tissue damage in the brain. Some strokes cause no symptoms at all and others cause rapidly fatal signs and symptoms. Between these two extremes there are many degrees of impaired function, depending on extent and site of damage. 'Little strokes' with minor symptoms (such as momentary dizziness, headache, weakness or tingling in a limb, etc.) for a few minutes may occur due to temporary spasm of blood vessels in the brain, compression of a carotid artery by a awkward posture or a defect in an artery that could later cause a major stroke. Symptoms that immediately follow a major stroke include headache, nausea and vomiting, convulsions and coma. Other symptoms such as stertorous breathing, incontinence of urine and faeces, paralysis of a limb or limbs and aphasia (speech deficiency) usually develop within a few minutes after the stroke but sometimes not for several hours. A major stroke can cause death within a few hours or days. Homoeopathic remedies In homeopathy there are some wonderful remedies to overcome the bad-effects of a stroke. Arnica in a higher potency is the first and principal remedy to be considered in haemorrhagic strokes which result from traumatisms recent or far. It accelerates the absorption of apoplectic effusion within the brain. Opium in potency is another important remedy to be used during the attack. When given in massive (unhomoeopathic) doses it produces all the symptoms of a major stroke. If it is given in proper time and appropriate potency it will bring the patient back to his normal healthy condition without permanent damages. In embolic and thrombotic strokes Barium carbonate in potency is very
useful, especially in old people. Apis mel, Anacardium, Causticum, Cuprum
met, Lachesis and Plumbum are indicated after the stroke. In a threatened
stroke Aconite, Gelsmium and Laurocerasus may be helpful. Belladonna,
Glonoine and Nux vomica are indicated during the early stage of stroke. Nature's medicinal umbrella Banyan (Ficus begalensis) is among the well-known trees of the world. Virtually all parts of the tree are considered medicinal, more so its milky juice or latex and bark. The bark is tonic, astringent, cooling, dry and diuretic. Its seeds or fruits are cooling and tonic. The milky juice is an astringent, capable of contracting living tissues and thus helping in healing of injured tissues. The milky juice is applied externally for pains and bruises and as an anodyne in rheumatism and lumbago. In cases of pain at the waist or inflammation at the joints, the milk is applied at the affected region and a little massage is done. It is also used as a remedy for toothache. Placing a swab of cotton soaked in the milk at the base of the troubling tooth takes away the pain and heals the tissue. The juice is applied to the sole of feet when cracked or inflamed. Patients of piles find a pleasant relief when they internally take the milky juice. Leaves are heated and applied as a poultice to abcesses and wounds to promote suppuration and discharge of pus. The bark is an astringent and is used in dysentery, diarrhoea and diabetes. A simple decoction of the bark is used as an astringent lotion in leucorrhoea. In case of excessive amount of urination, intake of a decoction of the bark is useful. Root fibre in the form of a decoction with or without the addition of honey is useful in gonorrhoea. Infusion of small branches is useful in haemoptysis. Slender twigs of the tree form a good toothbrush which is said to strengthen gums and teeth. An infusion of the young buds is useful in diarrhoea and dysentery. Its fruits may be eaten by patients of diabetes mellitus with advantage. Tender shoots are dried and powdered and taken in a very small quantity, just a pinch, but frequently, in cases of a disorder of urino-genital tract during which sperms get discharged along with urine, i.e. spermatorrhoea. The young tips of the hanging roots are given in instances of obstinate vomiting. - India Perspectives You & Your Doctor by Dr. Sampath Nanayakkara Loss of left eye vision Q: I am a 74 year old pensioner. I am suffering from diabetes and high blood pressure. The diabetic condition is controlled by dieting without recourse to any drugs whatsoever. The high blood pressure is controlled entirely by taking a tablet of depicor SR 10 daily. Both my eyes were operated on for cataracts. The left eye on 03.05.1994 and the right eye on 15.01.1996. I lead an active life and seemingly not afflicted with any other ailment. For over one year my left eye vision has been failing. I was given laser treatment for this condition about a year ago. There was no improvement following the laser treatment and now the vision in my left eye is very poor. I am informed that there is bleeding in my left eye. I had been taking, an aspirin daily for a couple of years. And it is my belief that my present condition is caused by the aspirin. Is there any possibility of regaining normal eyesight in my left eye and if so, how? D. K. Premasiri, Kadawata. A: Since you have been treated with laser, most probably you may have had a complications of diabetes itself called "Retinopathy", in that eye. In retinopathy you get some changes on the Retina (i.e. the tissue on the posterior wall of eye ball where the image is fallen) bleeding is one of those. Bleeding could be due to Diabetes and High Blood Pressure as well. I advise you to re-assess your diabetic state - by doing further blood tests - FBS, PPBS, HbAIC (your doctor will tell you about these tests) to prevent further complications occurring in your other eye too. If your blood lipid and cholesterol levels are normal there is no need of Aspirin. Anyway you better see an Eye surgeon at your earliest. He is the best person to give you some advice. |
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