2011 Group Project 8

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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Your Project Goes Here.

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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

Clinical Presentation

Symptoms

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)

Diagnosis

Friedreich's Ataxia (FA) is often diagnosed based on presenting clinical symptoms but testing for the gene defect that causes it is taken as a definitive diagnosis.

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.