2011 Group Project 8: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
Friedreich's Ataxia often manifests before puberty to early adulthood. Diagnosis can be made by physical complaints such as chest pains ([http://www.ncbi.nlm.nih.gov/pmc/articles/PMC484058/?tool=pmcentrez Chest pain during exercise as first manifestation of Friedreich's ataxia.], limb | Friedreich's Ataxia(FA) often manifests before puberty to early adulthood. Diagnosis can be made by physical complaints such as chest pains ([http://www.ncbi.nlm.nih.gov/pmc/articles/PMC484058/?tool=pmcentrez Chest pain during exercise as first manifestation of Friedreich's ataxia.], progressive gait and limb ataxia, absent lower limb reflexes, extensor plantar responses (Babinski's sign), dysarthria, reduction in or loss of vibration sense and proprioception ([http://www.ncbi.nlm.nih.gov/pubmed/10633128 Friedreich ataxia: An overview]), ([http://circ.ahajournals.org/content/25/3/493 Cardiac Aspects of Friedreich's Ataxia]). | ||
'''scoliosis''', foot deformity ('''pes cavus''', hammer toe) and cardiomyopathy are common but not symptoms which FA is often diagnosed by.([http://www.ncbi.nlm.nih.gov/pubmed/10633128 Friedreich ataxia: An overview]) | |||
==Treatment== | ==Treatment== | ||
Revision as of 16:48, 25 August 2011
| Note - This page is an undergraduate science embryology student group project 2011. |
Your Project Goes Here.
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
Friedreich’s Ataxia
Introduction
History
Epidemiology
Genetics
Inheritance
Genetic Expression
Pathogenesis
Pathophysiology
Clinical Presentation
Symptoms
Complications
Diagnosis
Friedreich's Ataxia(FA) often manifests before puberty to early adulthood. Diagnosis can be made by physical complaints such as chest pains (Chest pain during exercise as first manifestation of Friedreich's ataxia., progressive gait and limb ataxia, absent lower limb reflexes, extensor plantar responses (Babinski's sign), dysarthria, reduction in or loss of vibration sense and proprioception (Friedreich ataxia: An overview), (Cardiac Aspects of Friedreich's Ataxia). scoliosis, foot deformity (pes cavus, hammer toe) and cardiomyopathy are common but not symptoms which FA is often diagnosed by.(Friedreich ataxia: An overview)
Treatment
Genetic Screening
Current Research
References
Glossary
Scoliosis - Abnormal curving of the spine in the Coronal plane to form an 'S-shpe' when viewed from the front.
Pes cavus - Feet with abnormally high arches.
