Huntington’s Disease: “The Cruelest Disease Known To Man”.
That’s a Bold claim, is it not? However, it’s been referred to as just that.
Often described as having Parkinson’s and Alzheimer’s Simultaneously
Can you imagine inheriting a Disease that’s described has having the symptoms of two neurodegenerative diseases at once?
When we think about Parkinson’s, we think about the motor abnormalities the things with walking, gait, balance, and tremor. When we think about Alzheimer’s disease, we think more about the Cognitive problems, the memory and some psychiatric issues. So, yes it’s sort of a combination. The thing with Huntington’s Disease is the fact it tends to occur to people early in life, their thirties or forties. Even kids and teens can have it
-Dr. Cory Bloom-
Everybody knows what Parkinson’s, and Alzheimer’s are, What is Huntington’s Disease? Usually people respond with a puzzled look of curiosity, or they get excited because they saw (HD) mentioned on Scrubs, House, or Greys Anatomy, however, Huntington’s disease seems almost forgotten like the Korean War. Desperately fighting like a middle child for its own recognition .
Huntington’s Disease Is a rare inherited Disorder. Until recently, scientists understood very little about HD and could only watch as the disease continued to pass from parent to child Huntington’s disease (HD) is a fatal disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities during the prime of their life . The disease destroys cells in the basal ganglia, the part of the brain that controls movement, emotion, and cognitive ability. HD affects a person’s ability to think, talk, and move.
What is the Basal Ganglia?
The Inheritance of HD:
Huntington’s disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder. If a parent has the the Defective Gene any offspring have 50/50 chance of inheritance.
Gene type autosmal dominant only one parent needs to carry the gene to pass on the defective copy
The Defective Gene:
The defect is caused by a mutation in a gene on chromosome 4. Normally, the coding region of this gene contains the DNA sequence repeated again and again. The number of times this triplet is repeated varies from person to person, ranging from 10 to 26 times. People with HD have an abnormally high number of these CAG triplets, approximately 40 or more.
Huntingtin gene is responsible for making the Huntingtin protein, though found in every cell in the body the exact function of this protein is Unknown it appears to be vital for the survival of neurons and functioning of the brain.
Huntington’s Disease is living life entangled in a paradox, the more its studied, the more its unknown.
What age will a person get HD:
The rate of disease progression and the age at onset vary from person to person. Adult-onset HD, with its disabling, uncontrolled movements, most often begins in middle age. There are, however, other variations of HD distinguished not just by age at onset but by a distinct array of symptoms.
In 90 percent of cases symptoms appear between the ages 30 and 50.
Symptoms Of HD: Cognitive, Behavioral, Psychiatric, and movement
- Loss of coordination
- Slurred speech, eating, swallowing
- Uncontrolled muscle contractions (dystonia)
- Walking, stumbling, falling
- Difficulty learning new things
- Aggressive Outburst
There are Five stages of Progression:
- Early Stage – the person is diagnosed as having HD and can function fully both at home and work.
- Early Intermediate Stage – The person remains employable but at a lower capacity. Can manage daily functioning, with some difficulty.
- Late Intermediate Stage – the person can manage household responsibilities. Without considerable help.
- Early Advanced Stage – the person is no longer independent in daily activities.
- Advanced Stage – the person with HD requires complete Support. Nursing care is usually required.
An individual that inherited the Defective HD gene, from a parent will slowly progress 15-20 years from the age off onset. Though HD is fatal it actually is not the cause of death.
Typically an individual with Huntington’s Disease will succumb to pnuemonia, heart failure, or asphyxiation. 10% of individuals with Huntington’s disease commit suicide.