Multiple Sclerosis and its Genetic Variations
Multiple sclerosis is a nervous system disease that affects your brain and spinal cord. In severe cases, a patient may develop total paralysis or blindness while the milder version results in no more than numbness of the limbs. With over 350000 people in the US affected by this condition, a whopping $10billion is said to be involved in health-bearing costs associated with multiple sclerosis.
The human nerve fibres are surrounded by myelin membranes which protect the nerves and conduct impulses from the brain. In case a person is affected by multiple sclerosis, his own immunity system attacks the central nervous system and the myelin disappears in multiple areas. This leaves behind a scar which can worsen with passing time and results in the nerve fibres breaking down and getting damaged.
With less myelin content in a nerve, the impulses from the brain do not flow smoothly to the nerve muscles and as a result of this condition an individual is unable to carry out the instructions that are sent to the target centre by the brain, causing him to be highly impaired in his movements.
Associating genetics with multiple sclerosis:
Although multiple sclerosis is not considered a hereditary disease, it has been shown that a large number of genetic variations cause an increased risk of developing the disease. Relatives of a person affected with this disease such as parents, siblings and children have a higher risk of acquiring this disease. It has an overall family recurrence rate of 20% with monozygotic twins having a 35% concordance. Siblings and half-siblings have much lower acquisition rates of 5% or less.
Specific genes have also been found to be linked with the multiple sclerosis condition. Variations and differences in the HLA genes present in the chromosome 6 arm increases the probability of being affected. The most consistent relation is that between the MHC defined alleles DR15 and DQ6 and multiple scleroses.
Signs and symptoms
Multiple sclerosis has been found to affect the central nervous system in the body preventing the smooth flow of signals to and from the brain which gives rise to various symptoms in the body. In some patients, the symptoms are so mild that they are hardly noticed until a very later stage while in others they may be observed very early.
Some of the commonly occurring symptoms may be given as below:
- Bladder problems: It has been observed a difficulty in patients with emptying their bowels completely as they have to make frequent visits to the toilet. Sudden or unintentional passing of urea and frequent visits to the toilet at night are some of the common symptoms.
- Emotional changes: Multiple sclerosis can have significant emotional effect on the individual on first diagnosis. It is very difficult for a person to adjust to a diagnosis of a disease that carries a certain amount of physical disability. Nerve fibre damage in the brain can also result in emotional change.
- Fatigue: Fatigue is one of the most commonly occurring symptoms and affects almost 80% of the affected population. An individual’s ability to work at either home or office is seriously compromised causing them to give up their jobs.
Rehabilitation for treating multiple sclerosis
The main aim of rehabilitation is to help an individual perform more effectively at either home or work. It focuses mainly on energy management and general fitness while dealing with problems related to speech, mobility, memory, perception and thinking. It is an essential component for a patient affected with multiple sclerosis to achieve good quality health care.