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Huntingtons Disease

Huntington's disease (Huntington's chorea) is a progressive, degenerative disease that causes certain nerve cells in your brain to waste away. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance. HD has been heavily researched in the last few decades and it is one of the first inherited genetic disorders for which an accurate test can be performed. Huntington's disease is an inherited condition characterized by abnormal body movements, dementia , and psychiatric problems The name "chorea" comes from the Greek word for "dance" and refers to the incessant quick, jerky, involuntary movements that are characteristic of this condition. Some early symptoms of HD are mood swings, depression, irritability or trouble driving, learning new things, remembering a fact, or making a decision. This produces an extended form of the mutant Huntingtin protein ( mHtt ), which causes cell death in selective areas of the brain. Younger people with Huntington's disease often have a more severe case, and their symptoms may progress more quickly.

Tremor, rigidity, bradykinesia, and postural instability are the cardinal features of parkinsonism and may be present in any combination. There may also be a mild decline in intellectual function. The tremor of about four to six cycles per second is most conspicuous at rest, is enhanced by emotional stress, and is often less severe during voluntary activity. Although it may ultimately be present in all limbs, the tremor is commonly confined to one limb or to the limbs on one side for months or years before it becomes more generalized. In some patients, tremor is absent.As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty feeding himself or herself and swallowing. The Rarely, children may develop this condition. Like all inherited genetic disorders there is currently no cure, but some symptoms can be managed with medication and appropriate care.

Rigidity (an increase in resistance to passive movement) is responsible for the characteristically flexed posture seen in many patients, but the most disabling symptoms of parkinsonism are due to bradykinesia, manifested as a slowness of voluntary movement and a reduction in automatic movements such as swinging of the arms while walking. Curiously, however, effective voluntary activity may briefly be regained during an emergency (eg, the patient is able to leap aside to avoid an oncoming motor vehicle).

HD is caused by a trinucleotide repeat expansion in the Huntingtin ( Htt ) gene, and is one of several polyglutamine ( or PolyQ ) diseases . Whether one child inherits the gene has no bearing on whether others will or will not inherit the gene..Other regions, including the globus pallidus, thalamus, subthalamic nucleus, substantia nigra, and cerebellum, show varying degrees of atrophy depending on the pathologic grade. Younger people with Huntington's disease often have a more severe case, and their symptoms may progress more quickly HD has a broad distribution of age of onset of physical symptoms, but is usually between 40 and 50 years old. In the last several years, scientists working with support from the National Institute of Neurological Disorders and Stroke (NINDS) have made several breakthroughs in the area of HD research. With these advances, our understanding of the disease continues to improve.Medications are available to help manage the signs and symptoms of Huntington's disease, but treatments can't prevent the physical and mental decline associated with this condition

Causes of Huntingtons Disease

The common causes of Huntingtons Disease:-

  • Excitotoxicity refers to the neurotoxic effect of excitatory amino acids in the presence of excessive activation of postsynaptic receptors.
  • NMDA receptors are depleted in the striata of patients with HD, suggesting a role of NMDA receptor-mediated excitotoxicity, but no correlation exists between the distribution of neuronal loss and the density of such receptors.
  • Abnormal facial and body movements develop, including quick jerking movements.
  • Everyone who has the gene eventually develops Huntington's disease, if he or she lives long enough.
  • Striatal damage induced by quinolinic acid can be ameliorated by the administration of spin-trap agents, which reduce oxidative stress, providing indirect evidence for the involvement of free radicals in excitotoxic cell death.
  • The disease may occur earlier and more severely in each succeeding affected generation because the number of repeats can increase.
  • This test will usually be able to show whether someone has inherited the faulty gene, but it will not indicate the age at which they will develop the disease.
  • The continuous aggregation of the mHtt molecules in neuronal cells causes them to die off in selected regions of the brain.

Symptoms of Huntingtons Disease

Some are common causes of Huntingtons Disease :

  • Sudden jerky, involuntary movements (chorea) throughout your body
  • facial movements, grimaces
  • need to turn head to shift the gaze
  • Difficulty shifting your gaze without moving your head
  • The disease often progresses slowly, and the affected person may live for 15 to 20 years after the initial diagnosis.
  • Deterioration of language may be manifested by difficulty producing the names of individuals and objects (aphasia) Grunting or poor articulation of speech
  • Gradual development of random, brief, "fidgeting" movements of the fingers or toes

Treatment of Huntingtons Disease

The most importent treatment of Huntingtons Disease :-

  • The drug tetrabenazine has shown some positive effects in the treatment of chorea, for patients with Huntington disease (HD). It selectively depletes central monoamines by reversibly binding to the type-2 vesicular monoamine transporter.
  • The treatment of HD patients requires an integrated, multidisciplinary approach including symptomatic and supportive medical management; psychosocial support; physical, occupational, or speech therapy; genetic counseling; or additional supportive services.
  • Irritability may be treated with antidepressants, particularly the SSRIs; mood stabilizers, such as valproic acid or carbamazepine; and, if needed, atypical neuroleptics.
  • dystonia - sustained twisting movements
  • If other studies confirm these results, cysteamine could soon be used to treat Huntington's disease, and BDNF could serve as a biomarker of its efficacy.

Medical Measures for treating Huntingtons Disease Disease - Drug treatment is not required early in the course of parkinsonism, but the nature of the disorder and the availability of medical treatment for use when necessary should be discussed with the patient.

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