Huntingtons Disease

Introduction

 

Huntington’s disease is a hereditary and progressive neurodegenerative disorder that results in memory loss, uncontrolled movements, and emotional instability. Due to gene mutation, the neurons begin to produce the neurotransmitter glutamate in large amounts. 

 

 

In turn, glutamate breaks up the neurons found in the basal ganglia of the brain. The neuron destruction provokes uncontrollable movements in the affected individual. These include twisting and squirming, and symptoms pointing to severe cognitive impairment. 

Which Part of the Body Is Most Affected by Huntington’s Disease?

Huntington’s disease mainly affects the brain structures, which leads to the impairment of their functions. In turn, the affected individual can experience a negative effect on awareness, impairment of cognitive abilities such as thinking and memory, and obstruction of physical movements. 

What Are the Causes of Huntington’s Disease?

 

This progressive neurodegenerative disorder occurs as a result of mutation of the HTT gene. That’s the gene involved in the production of the protein labeled as huntingtin. The HTT gene is also responsible for the normal development of the brain and the neuron cells before birth. 

 

Due to this gene mutation, the huntingtin protein strain becomes abnormally long since the DNA constituent series begin to multiply uncontrollably. This long protein strain obstructs the normal functioning of the neuron cells in the brain and eventually destroys them. 

What Are the Symptoms of Huntington’s Disease?

The list of early symptoms indicating an occurrence of Huntington’s disease includes:

  • Depression and bad mood in general,
  • Feeling of hopelessness,
  • Apathy (lack of interest in all areas of life and life itself),
  • Impaired physical abilities (clumsiness, frequent stumbling),
  • Impaired memory functions (memory lapses),
  • Lack of ability to concentrate and maintain attention to something,
  • Irritability,
  • Aggressiveness,
  • Involuntary wriggling or jerking of body parts,
  • Abnormal movement of the eyes,
  • Difficulty maintaining posture and balance,
  • Impaired cognitive abilities,
  • Inability to speak correctly or participate in a conversation,
  • Difficulty swallowing,
  • Muscle rigidity.

The Stages of Huntington’s Disease

There are 5 stages of progression of Huntington’s disease:

  • The early stage of HD progression, 
  • The early intermediate stage of HD progression, 
  • The late intermediate stage of HD progression,
  • The early advanced stage of HD progression,
  • The advanced stage of HD progression.

 

The Early Stage of HD Progression 

At this stage, the affected patient usually doesn’t have many pronounced problems in daily/professional activities. The early stage is marked with more changes in cognitive abilities than in motor movements.

The Early Intermediate Stage of HD Progression 

This stage can last up to 13 years of the affected individual’s life. During this stage, involuntary movements can occur in some parts of the body, while the patients can still maintain more considerable independence regarding everyday functioning.

The Late Intermediate Stage of HD Progression

This is the stage where the patient faces difficulties in coping with everyday activities. Cognitive abilities show an even greater degree of decline. The affected individual is no longer able to think clearly and this symptom is accompanied by changes in personality displayed through increased aggressiveness, irritability, and anxiety.  

The Early Advanced Stage of HD Progression

At this stage, the affected individual can no longer perform everyday activities individually. This implies a greater need for assistance from a medical professional or a close relative of the patient. 

The Advanced Stage of HD Progression

The final, advanced stage of Huntington’s disease progression underlines the complete dependence on assistance from others. Physical movements are impaired to a great degree as well as the ability to swallow. Other symptoms that point to the worsening of this disease are teeth grinding, body stiffness, extreme blood pressure values, etc.