Parkinson’s disease is described as ‘idiopathic’ which is term used to describe something of unknown cause, in other words, the reason why Parkinson’s disease occurs is unknown, although it is understood what happens in the brain to cause these symptoms. In Parkinson’s the cells that control coordination in the brain, degenerate thus losing the control of smooth movement. As a rule, the disease begins in the fifty to sixty age group and tends to affect more men than women.
There are no blood tests or any other tests that can diagnose Parkinson’s disease, although CT scans (special x-rays) and EEG scans (which measures the electrical brain waves) could reveal changes in certain parts of the brain. There are a number of drugs available to help with the symptoms, but it is a matter of trial and error to determine which specific drugs work on each individual. Although it is now a thing of the past, occasionally, brain surgery to destroy part of the brain in an attempt to block nerve pathways that cause the tremors may be preformed. In recent years, a new revolutionary surgery has been discovered called deep brain stimulation.
This procedure involves inserting electrical wires in the brain, while the patient is still awake (and only numbed with a localised anaesthetic) through holes that have been drilled in the skull. The patient then only has to flick a switch to stop their tremors. This operation is very successful but very dangerous to carry out. While Parkinson’s disease rarely cause death, there is sadly no known cure and as the disease progressively gets worse, it causes otherwise normal people to become invalids and totally dependant on other people for help.
Cirrhosis and Wernicke-Korsakoff Psychosis are other common degenerative disease. Cirrhosis is severe damage to the liver. Although it is often thought cirrhosis of the liver is due to excessive alcohol, this in fact is not true. Children and people, who do not even drink may also be affected. Too much alcohol may cause cirrhosis with other causes being hepatitis A, B and C, gallstones, toxins, poisons, drugs and a number of rare diseases such as Wilson’s disease and Gaucher’s disease.
Cirrhosis is a result of the liver becoming hard and enlarged. The scar tissue that replaces damaged areas of the liver is unable to carry out the liver’s vital functions of detoxifying poisons and producing protein. The more functioning liver cells are damaged, the more the signs of cirrhosis will become apparent. The sufferer is likely to suffer from jaundice and anaemia, they will be prone to bruising and will probably feel lethargic. Swelling of the legs and abdomen will steadily worsen, until the victim eventually dies from liver failure. Other than a liver transplant, cirrhosis is incurable. Vitamin supplements and nutritious diets are recommended and medication may aid in helping some of the symptoms until the liver ceases to function.
Wernicke-Korsakoff psychosis or encephalopathy as it is otherwise known, is brain damage due to a lack of vitamin B, in particular thiamine (vitamin B1). This disease usually occurs in alcoholics that neglect their diet and in the elderly that may be malnourished. Blood tests confirm the disease and treatment involves thiamine supplements that are initially given by injection and then later in tablet form. Provided the sufferers abstains from alcohol and eats a healthy, well balanced diet, together with cooperation and a continuation of the treatment, then the outlook is not as gloomy as the other degenerative diseases that have been mentioned.
Multiple sclerosis (MS) or disseminated sclerosis is a disease of the brain and spinal cord that interferes with the brains ability to control movements. The disease causes scattered parts of the brain and spinal cord to become damaged at random. These damaged areas fail to work properly and the nerve messages to the brain do not flow smoothly or even reach the brain at all resulting in paralysis. Sometimes the message may travel the wrong way and will consequently cause an abnormal tremor or movement. Multiple sclerosis is a result of the nerves being stripped of myelin, the insulating coat that surrounds them. Symptoms vary from one patient to another as damaged tissue can repair itself and become fully functional, whereas yet another nerve may become damaged and cause another symptom.
The main characteristics of multiple sclerosis are problems with their vision, paralysis, tremor, poor balance and coordination, general tiredness and numbness. Patients may also experience difficulties in controlling arms or legs, speech problems and periods of blindness. There is no effective treatment although certain drugs such as steroids and particular therapies such as physiotherapy and speech therapy can slow the progression of the disease and may even go into remission. Other degenerative diseases that also affects the nerves in the brain and spinal cord include Motor neurone disease and Myasthenia gravis. Unlike multiple sclerosis, where the usual age group that is affected is between twenty and thirty-five, motor neurone disease is a condition that is regularly seen in people between the ages of thirty-five and seventy years of age.
The main features of this disease are weakness and wasting of all the muscles in the body, starting with the smaller muscles of the hands and feet until eventually the entire body becomes paralysed. Difficulty with swallowing, talking and coughing are also symptoms. There is again no cure for motor neurone disease and the cause of the disease is also unknown. Physiotherapy on a regular basis is essential and the disease is always fatal within three to ten years of diagnosis.
Myasthenia gravis is a rare condition that is characterised by varying weakness of the muscles that the movement of eyes and eyelids and those that control swallowing. In severe cases the muscles used in walking and breathing are also affected, therefore if adequate treatment is not received, death eventually results from breathing difficulties. It can occur at any age and is caused as a result of blocked nerve signals.
There are some degenerative diseases that are congenital (passed on in genes from the parents to their offspring). An example of a degenerative genetic disease is cystic fibrosis. Typically one baby a day will be born with this serious and potentially fatal disorder, which was first discovered around fifty years ago. As cystic fibrosis is a recessive genetic condition, both parents therefore have to carry the faulty gene in order for the gene to be passed on. Even if both parents do posses the defective gene, only one in four children will actually be born with the disease. The condition cannot be detected during pregnancy, although screening parents to see if they are possible carriers of the recessive gene is sometimes successful.
Cystic fibrosis causes lung infections and digestive system problems. An abnormality in the system that governs how salt and water move in and out of the body’s cells, causes problems with the glands, particularly in the lungs and gut, that secretes sweat, mucus and digestive juices. In the gut, as excess mucus is produced, food is therefore unable to digest properly and diarrhoea occurs that is also accompanied by an unpleasant odour and abdominal pain.
A lack of appetite and consequent weight loss are possible results of these particular symptoms. In the lungs, the mucus becomes thick and sticky causing the lungs to clog up. In turn this causes the lung tissue to be destroyed and as already mentioned, infection occurs, such as bronchitis or pneumonia. Wheezing and shortness of breath and a hacking cough, sometimes with vomiting may also be present due to the blockage of the lungs with mucus. Because of the damage that occurs to the lungs, heart failure may eventually transpire. Since the glands in the reproductive system are also affected, the patients are more often than not, infertile (unable to have children). They are therefore unable to directly pass the disease on.
Cystic fibrosis is diagnosed by various tests including chest x-rays, measuring the amount of salt in sweat, abnormal lung function tests and faeces tests. Treatments include medications to open airways (bronchodilators) and to loosen the thick mucus (mucolytics) and antibiotics are prescribed to treat lung infections. It may be necessary for the patient to actually take up to sixty tablets a day, which will include vitamin supplements that are designed to replace the lost digestive enzymes and aid weight gain.
Regular sessions of physiotherapy are also essential in order to clear the lungs. Eventually the patient will more than likely need a lung and heart transplant. There is no cure for cystic fibrosis, though these days’ patients often live into their thirties with their commitment and dedication to following a strict and comprehensive treatment regime, as opposed to twenty years ago, when living to twenty years would have been something of a medical marvel.
Other genetic degenerative diseases include Sickle cell anaemia and dystrophy, which occurs in many forms. Sickle cell anaemia or haemoglobin S disease as it is otherwise known, is an inherited condition that only affects black skinned people of African origin. The disease is due to an abnormality in the development of the red blood cells. Haemoglobin is the pigment found in red blood cells, that carries oxygen around the body.
The usual shape for a red blood cell is circular which enables them to pass through the fine blood capillaries in order to travel to the parts of the body that requires oxygen. Unfortunately, the red blood cells of those that are affected with sickle cell anaemia produce an abnormal form of haemoglobin called haemoglobin S. Once the red blood cells that contain this form of haemoglobin have given up their oxygen, they then become an irregular shape.
The commonest shape that they will become is a sickle shape or crescent moon shape, hence the name of the disease. The shape of these red blood cells means they cannot pass through the capillaries and they may also block the passage, preventing other red blood cells that contain oxygen from passing through. The symptoms include tiredness and weakness, the inability to heal properly and cope with infections, the victim may become jaundice with having a large spleen and they are prone to developing gallstones. Sufferers will experience acute pain in most parts of the body due to the clumping together of the abnormal red blood cells, which in turn will block small arteries. This also causes permanent damage to the heart, liver or any other organs where there are blocked arteries.
There is no cure for sickle cell anaemia and the outlook is dismal, as many sufferers will probably die in childhood or during adolescence. In the meantime, treatments include prompt treatment of any infections that may arise and an adequate fluid intake and folic acid help to reduce abnormal cells from reaching crisis numbers. The faulty gene that causes sickle cell anaemia can be detected in blood tests and if two carriers of the gene have children together, the children will have a twenty-five percent chance of inheriting the disease.
For the child to have full blown sickle cell anaemia, they will therefore have to inherit a faulty gene from each of the parents. On the other hand, if the child only inherited one faulty gene, it would therefore have the sickle cell trait. The sickle cell trait is not fatal and rarely causes any problems unless the individual is exposed to an environment that is low in oxygen, such as flying, as there may be a drop in oxygen, even in a pressurised cabin.
Dystrophy is the term used to describe a number of inherited disorders in which wastage of tissues occurs. Corneal dystrophy is a rare inherited disease in which cells in the cornea in the eye are damaged, causing sight to be impaired or even blindness. The most renowned form of dystrophy is muscular dystrophy. This disease prevents muscle cells to properly develop resulting in weakness and paralysis as a result of the muscle fibres gradually deteriorating and wasting away.
Huntington’s chorea, Hunter syndrome, Hurler syndrome and Werdig-Hoffman syndrome are also diseases that have been passed from the parents to their children. Huntington’s chorea is a distressing condition that affects muscle function and coordination. Unlike other congenital diseases, the symptoms of Huntington’s chorea do not become evident until the patient is between the ages of thirty and fifty years, therefore the disease is often already passed on to the next generation before diagnosis has been confirmed. If this is the case, their children will then have the option as to whether or not they want to be tested for the disease. An advantage of having this test is that they were diagnosed with the illness, they may decide not to have children, as there would be a fifty percent chance of passing on the faulty gene.
On the other hand, if they decided to have the test and it was confirmed that they did have the disease, this could have dramatic effects on them, psychologically and emotionally as they would have to live with the fact that they were going to get ill, as would not having the test and having to live with the possibility of developing the disease. Symptoms include irregular random movements of their face, arms and legs, irritability, moody and antisocial behaviour, restlessness, fidgeting, mental deterioration, premature senility and rigid muscles. These symptoms progress over several years and may even result in severe psychiatric disturbances. There is no effective treatment available, though some psychiatric drugs may help to reduce mood swings and drugs such as muscle relaxants may help with abnormal movements. Inevitably, death occurs within ten to twenty years of the symptoms first developing.
Hunter syndrome (mucopolysaccharoidosis type II being the medical term) is an uncommon inherited condition that is a deformity of the metabolic system. This disease prevents sufferers from eliminating particular substances (mucopolysaccharides, hence the medical name) from the body. This disease is accompanied by many disabilities including stiff joints, misshapen facial features, enlarged spleen and liver, heart abnormalities and mild mental retardation.
Deafness may also occur. Hunter syndrome is diagnosed with certain blood tests, bone marrow tests and x-rays. There is no cure for this syndrome, though patients do have a moderate life expectancy. Hurler syndrome (mucopolysaccharoidosis type I) is very similar to Hunter syndrome. Patients with Hurler syndrome also have the inability to remove mucopolysaccharides from the body. Sufferers with Hurler syndrome have basically the same characteristics as those with Hunter syndrome except they will also have a short stature, spinal deformities and blindness. In both cases surgery is possible for heart abnormalities and facial defects, though patients with Hurler syndrome will suffer heart failure and death as a result in early childhood.
Werdig-Hoffman syndrome is an inherited, progressive, permanent wasting and weakening of the muscles. As the patient with this disorder develops weakening of the muscles in the trunk rather than their limbs, it increasingly makes their breathing difficult, until the point where pneumonia may occur. Muscle biopsy and electrical studies of the muscles are used to detect the syndrome. Physiotherapy may be of some use, but as there is no effective treatment at present, most sufferers will probably die before the age of five years.