Genetic Neurological Diseases

A genetic disease is that which is caused due to a variation (an unusual form of a gene) or a mutation (changes in a gene). Genetic neurological diseases are those genetic conditions that affect the brain, spinal cord and the neurons. Some of these disorders are caused due to some random mutations in the gene which are generally a result of environmental exposure, for instance, cigarette smoke. Other genetic neurological diseases are inherited implying that the gene variation or mutated gene is passed down through the different generations of a family. There are also those that are caused due to the combination of the two.

Some examples of genetic neurological diseases include:

Leukodystrophies:

• These are rare conditions that are caused due to the damage of the myelin sheath that surrounds neurons, thereby delaying or blocking signal transmission between the body and the brain.
• The common symptoms include vision, hearing, movement and speaking problems and retarded physical and mental development. These generally occur at early stages of childhood. They are generally hard to detect as the symptoms suddenly appear on seemingly healthy kids and get worse with time.
• Leukodystrophies have no cures though speech therapy, medicines and physiotherapy can help reduce the symptoms.

Phenylketonuria or PKU:

• This is a genetic neurological disease in which the body is incapable of processing the protein phenylalanine which is present in most foods. If this protein level gets too high, it could cause severe mental retardation due to brain damage.
• The treatment for PKU is low-protein diet. IF diagnosed and treated early and if a proper diet is followed, the disease can be controlled completely such that no symptoms are seen.
  

Tay-Sachs Disease:

• This is a rare genetic neurological condition that results from the excessive fat deposit in nervous tissues. The neurons hence get destroyed, resulting in physical and mental problems.
• Early symptoms begin to appear right in after a few months of birth and they get worse as till the child gradually becomes deaf, blind and incapable of swallowing. Muscular atrophy occurs and there is onset of paralysis.
• No cure has been found for the disease and even with treatment , the maximum a child affected by this disease can survive is four years.

Wilson’s Disease:

• This is another example of genetic neurological diseases. In this condition, the body retains excessive copper, which is supposed to be released into the bile, and accumulates it in the liver causing the liver tissue to get damaged. Over time, this copper is released into the bloodstream from where it reaches the brain causing neurological symptoms.
• A low-copper diet can help in beating the disease and with that a person suffering from it can live a normal life.

Huntington’s Disease:

• This is one of the most common genetic neurological diseases. The genes are inherited and the chance of inheritance is 50% if either parent has it. Despite the presence of the defective gene, symptoms appear only around the age of 30.
• Symptoms include involuntary muscle movement, clumsiness, loss of intellectual faculties, problems in walking, talking and swallowing.
• There is no cure for the disease and it always results in death although medicines and therapy casn reduce symptoms and prolong existence.