Huntington Disease

Genes carry the information that determines the formation of proteins and traits in the body. Genetic disorders that can be caused by a change in one gene are known as single gene disorders.
Change in HTTgene leads to a condition known as Huntington disease. Changes in this gene can cause change in protein formation which can lead to death of brain cells leading to the symptoms of the condition.

It is a genetic condition that primarily affects brain function.
The symptoms include problem with actions of your body. It can cause change in your behaviour along with your thinking, reasoning, awareness and judgement.
The symptoms are more likely to start between 35-44 years of age. So, even though someone in the family has the genetic change since birth, their symptoms will start to appear later in life.

The symptoms of this condition can vary from person to person. It is a progressive condition so symptoms can worsen gradually over the period of time. At later stage, a person becomes completely dependent on other people and require full nursing care.
Survival after development of symptoms is around 10 to 25 years.
Problems with movement: Sudden Jerky or the movements which are not under a person’s control of head, face, arms or legs is common. It can result in difficulty in eating by yourself, dressing yourself or frequent falls while walking. Over the time stiffness and tightness in the movement can be noticed. It can also interfere with your speech as the condition progress.
Problems with memory: Huntington disease can interfere with your perception, thinking, reasoning, awareness and judgement. It can cause short term memory and lack of concentration. It becomes difficult to learn new skills.
Mood and behaviour problems: you may notice irritability and agitation in your behaviour. You might start losing interest in the things you used to enjoy before. Depression and mental health problems are also commonly seen in Huntington disease.

If you already have symptoms then genetic testing can be performed to confirm the diagnosis of Huntington disease.
It there is a history of Huntington disease in your family, then pre-symptomatic testing for atrisk individuals can be performed. Pre-symptomatic testing means testing for an individual who doesn’t have any symptoms of the condition yet. If the genetic change in identified it can confirm that the person is going to develop symptoms at later stage in life. Exact onset of symptoms cannot be provided by any tests. Pre-symptomatic testing for children below 18 years of age cannot be done. It is always advised to undergo proper genetic counselling before opting for pre-symptomatic testing.

Currently there is not curative treatment available for this condition. Management by supportive and symptomatic therapies helps in slowing the progression of the condition.
Certain Medicines can be used for treating the symptoms. This can be prescribed by your doctor as and when required after discussing potential benefits and side effects.
Doctors to be consulted for management: Neurologist, psychiatrist, physiotherapist, speech therapist, dietician and a genetic counsellor.
Assessment of functional abilities byBehaviour Observation Scale Huntington (BOSH) and the Unified Huntington’s Disease Rating Scale (UHDRS).
Agents to be avoided: L-dopa-containing compounds (may increase chorea), alcohol consumption, smoking.

Huntington disease is inherited in autosomal dominant pattern.
If either of the parent is affected, there is 50% chance for the condition to recur in every sibling of an affected individual.
An affected individual has 50% chance of passing the condition to their offspring
Prenatal testing during pregnancy period can be done if either partner is affected. However, appropriate genetic counselling required prior to testing.

https://www.ncbi.nlm.nih.gov/books/NBK1305/#huntington.Resources (Huntington disease gene reviews)
Patient support group: Huntington disease society India (HDSI)

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