2011 Group Project 8

From Embryology
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




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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 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., limb incoordination, diminished or absent deep tendon reflexes, scoliosis, pes cavus, and hammer toe (Cardiac Aspects of Friedreich's Ataxia) these are the more common signs.

Treatment

Genetic Screening

Current Research

References

Glossary