Difference between revisions of "2011 Group Project 4"

From Embryology
Line 15: Line 15:
  
 
==Diagnostic Tests==
 
==Diagnostic Tests==
 +
 +
Huntington’s Disease is most commonly diagnosed at the onset on symptoms, typically in the middle ages. The diagnosis is relatively simple in patients with typical symptoms. Diagnosis is important to ensure that this disease is not confused with similar diseases, which mimic similar characteristics <ref><pubmed>17240289</pubmed></ref>. These include tardive dyskinesia, chorea gravidarum, hyperthyroid chorea and Neuroacanthocytosis <ref><pubmed>16003113</pubmed></ref>. In children, subacute sclerosing panencephalitis can easily be mistaken for Huntington’s disease as they both present with very similar clinical presentations <ref><pubmed>1807185</pubmed></ref>. Huntington’s disease can also be diagnosed when a patient is asymptomatic, by genetic testing. This also enables detection of the disease in embryos.
  
 
==Clinical Manifestations==
 
==Clinical Manifestations==

Revision as of 21:04, 30 August 2011

Note - This page is an undergraduate science embryology student group project 2011.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip




Huntington's Disease

Introduction

History

Pathogenesis and Genetics

Diagnostic Tests

Huntington’s Disease is most commonly diagnosed at the onset on symptoms, typically in the middle ages. The diagnosis is relatively simple in patients with typical symptoms. Diagnosis is important to ensure that this disease is not confused with similar diseases, which mimic similar characteristics [1]. These include tardive dyskinesia, chorea gravidarum, hyperthyroid chorea and Neuroacanthocytosis [2]. In children, subacute sclerosing panencephalitis can easily be mistaken for Huntington’s disease as they both present with very similar clinical presentations [3]. Huntington’s disease can also be diagnosed when a patient is asymptomatic, by genetic testing. This also enables detection of the disease in embryos.

Clinical Manifestations

Treatment

There is no cure for Huntington's disease. Similar to AIDS, only the symptoms can be treated to slow down the progression of the disease.

Medications

  • Movement disorders
  • Psychiatric disorders

Therapies

  • Psychotherapy
  • Speech Therapy
  • Physical Therapy
  • Occupational Therapy

Breakthroughs

Quite recently, there are a couple of breakthroughs for the treatment of Huntington's.

  • Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. [4]
  • Using adult neurotrophic factor-secreting stem cells. [5]

Current/Future Research

External Links

Glossary

References

  1. <pubmed>17240289</pubmed>
  2. <pubmed>16003113</pubmed>
  3. <pubmed>1807185</pubmed>
  4. <pubmed>19361997</pubmed>
  5. <pubmed>19603590</pubmed>

2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip