Huntington Disease - Medtick

Huntington Disease

What is it?

A condition where one has slow shrinking of brain cells (basal ganglia) due to a protein build up caused by a genetic disorder, one can live with a this condition for many years without symptoms but during sometime in their life this condition will develop, exactly when is unknown.

  • This can cause also a change in behaviour, emotion, learning and thinking.
  • It can also affect the nerves in your spinal cord causing problems in movement in daily activities.
  • Huntington’s disease affects men and women. It usually develops between the ages of 30 and 50, (Adult-onset Huntington disease)) but can start at any age.
  • If you develop symptoms before the age of 20, this is known as Juvenile Huntington’s disease (Early-onset Huntington disease).

  • People with the adult-onset form of Huntington’s disease usually live for 15 to 20 years after symptoms begin to appear.
  • The early-onset form generally progresses at a faster rate. People may live for only 10 to 15 years after the onset of symptoms.

Healthline

Cause

  • Genetic condition where:
    • Genetic mutation affecting the HTT gene, leading to production of a toxic form of the huntingtin protein.
    • There is a genetic/DNA copying error. An area within the gene is copied too many times.
    • The number of repeated copies tends to increase with each generation.
    • In general, symptoms of Huntington’s disease show up earlier in people with a larger number of repeats.
    • The disease also progresses faster as more repeats build up (A lower number usually means that the disease will progress more slowly).
  • Family history-autosomal recessive disorder (Both parents who are carriers of  the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
  • If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting FMF), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).
  • It can skip generations.

Symptoms

Early symptoms:

  • Personality changes, mood swings?
  • Lack of emotion?
  • Not recognising needs of others?
  • Alternate periods: aggression, excitement, depression, anti-social behaviour, irritable?
  • Can’t concentrate on one task?
  • Short-term memory loss?
  • Appears lazy and/or lack of drive?
  • Drooling?
  • Clumsiness?
  • Slurred speech?
  • Slow movements?
  • Frequent falling?
  • Aching and/or painful muscle stiffness?
  • Sudden decline in school/college and/or working performance?

Middle stage symptoms and Late stage symptoms (symptoms below occur at different times for each individual or may have only some symptoms):

  • Aching, painful muscles, muscle cramps/spasms/stiffness (especially in Juvenile Huntington disease- Early-onset)?
  • Uncontrollable movement, flickering or fidgeting (more in Adult-onset Huntington disease)?
  • Loss of coordination with hands and arms, spill food and drink, eating messy
  • Communication problems (they can understand, but can’t talk back communication back)?
  • Difficulty chewing, swallowing, talking, slurred speech?
  • No control of muscles in mouth (leads to choking of foods and drink) and diaphragm, muscles don’t work properly?
  • Aching, painful muscles, muscle cramps/spasms/stiffness?
  • Difficulty using arms, body and legs, lack of stamina and/or walking difficulties?
  • General discomfort (muscle weakness), uneasiness or ill feeling (malaise) and/or fatigue (tiredness)?
  • Sexual problems (loss of drive)?
  • Unexplained weight loss?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop:

  • Pneumonia
  • Suicidal thoughts
  • Injuries from falling
  • Unable to swallow

This condition can lead to:


Driving Authority


This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

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