What Is Huntington’s Disease ?
One of the most mysterious diseases ever discovered ,The Huntington’s disease , has yet another face to show . For this article we are discussing What Is Huntington’s Disease and some other fascinating facts about the ‘HD’ ( short for Huntington’s Disease ) which involves a brief introduction to the disease along with causes and symptoms of the ‘HD’. We might also be able to elaborate for you guys the latest possible treatment for the ‘HD’ . But first , let us know why this – specific , kind of hard to pronounce – name was given to mostly every thing about this disease .
Origin Of The Huntington’s Disease Name
George Huntington is an American physician who actually was the
very first person to discover this vicious disease. That historical discovery was written on a scientific paper on February 15, 1872 but was then published to the Medical and Surgical Reporter of Philadelphia on April 13, 1872. Ever since then , every detail about the disease is named after it’s great discoverer.
Introduction To Huntington’s Disease
To cut real simple for all of you , Huntington’s disease is an example of gene mutation in the Huntington’s gene producing a mutant for of Huntington’s protein. Thus , Huntington’s disease is not caused by a pathogen or microorganisms . What’s rather unfortunate about the ‘HD’ is that the mutant form of the Huntington’s gene is inherited as a dominant allele which means most individuals diagnosed with the disease are heterozygous and have a 50% chance of passing on the mutant gene which will cause the disease to their offspring (baby) .
The answer to the often question ” What is Huntington’s disease ” in brief is the following . ‘HD’ is a neurological disease which means it affect neurons in brain and spinal cord. This results in involuntary movements also known as Chorea and progressive mental deterioration .The utter bummer is actually the time when the disease starts to produce its effect . The age of onset is variable , but occurs most commonly between the ages 33 – 45 , so that individuals may have children and pass on the disease before they know that they themselves have it.
Causes Of The Huntington’s Disease
As mentioned before , ‘HD’ is a form of gene mutation in the Huntington’s gene . This mutant gene produces a deformed and mutant protein called Huntington’s protein . We are not certain the function of the Huntington’s protein in the brain but we know that when a mutant form of the gene is produced it produces this defect protein which causes the disease . Furthermore , the mutation affects a segment in a gene on chromosome 4 coding for Huntington’s protein which seems to be active in the brain .
In normal people who do not have ‘HD’ , the segments are made up of a small number of repeats of the triplet CAG ; however , people with the disease have a much larger number of repeats of the CAG triplet . This is called a ‘stutter’ . Surprisingly , there is an inverse correlation between the number of repeats of the CAG triplet and the age onset of the Huntington’s disease . To clarify , The more the stutters , the earlier the disease appears .
Symptoms Of The Huntington’s Disease :
- Involuntary movements (chorea)
- Progressive mental deterioration
- Difficulty with swallowing
- Abnormal eye movements
Here is a quite touching video of a guy called Danial explaining his daily suffers with the disease :
People with Huntington’s disease suffer on on both social and mental levels. Having said that , more funds should be dedicated for the sake of finding a cure to this outrageous disease. Please do not hesitate donating money to any research or anything related to the matter.
Treatment Of The Huntington’s Disease
Well , unfortunately , up till this exact moment no scientists have deduced a real effective treatment to the ‘HD’ ; nevertheless , researchers along with scientists are working very hard to reduce the progression of the ‘HD’ . Patients are also advised to visit a therapist or a psychologist to try overcome their depression and other psychiatric conditions . It is also quite helpful to be in contact with other ‘HD’ sufferers and gather all around on a regular basis to discuss more about the disease and learn easily more about it.