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Huntington's disease (HD) is a hereditary disease which is generally described as the degradation of the patient's nervous system which leads to neuromuscular, cognitive and psychiatric disorders. HD is mainly due to the degenerative functions of nerve cells in the brain that causes the malfunctioning of the nervous activities such as uncontrolled movements, intellectual disabilities and mood swings. The gene that causes the formation of abnormal nerve cells is the mutation of the Huntingtin gene which codes for the protein huntingtin. This gene is found out to be the located in the chromosome number 4, in the autosomal regions which makes the inheritance for male and female to be equal.
The general symptoms for the disease are most prevalent at the ages of 35 and above. There are cases when symptoms can be found out at a very young age.
Early stage - change in personality, subtle changes in cognition and physical skills
Initial symptoms - jerky movements or chorea, abnormal or awkward movements, lack of coordination and saccadic eye movements
Initial symptoms may last long up to five years along with the formation of the other symptoms such as abnormal postures and facial expressions, difficulty in chewing, swallowing and speaking, sleep disturbances and seizures.
Diagnosis of the disease starts with background check, psychological interviews and physical assessment, and finally doing a genetic examination identifying the mutated genes.
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