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

Introduction

Friedreich’s Ataxia (FRDA) is an extremely debilitating progressive neurodegenerative disease. FRDA, an autosomal recessive disorder, is the most common of the inherited ataxias and affects an estimated 1 in 50000 people. Genreally, FRDA is not diagnosed until the patients reaches their second decade of life, around the time of puberty, in which ataxic gait becomes noticeable. Progressive weakness is also noticeable due to loss of skeletal muscle, which can cause pateints to become wheelchair bound with in 10-15 years of onset of the disease. The disruption of the frataxin gene is often caused by a trinucleotide repetition of GAA, which is located on chromosome 9q. The result of this gene is a mitochondrial protein, frataxin, which is known to play a role in iron homeostasis. This causes major disablilties in the tissues containing the fraxtain deficent mitochondria, such as skeletal and cardiac muscle, as well as, the central and peripheral nervous systems. The results of FRDA involves an increase chance of developing diabetes mellitus and premature death due to congestive cardiac failure and cardiac arrhythmia.

History

Nikolaus Friedreich Portrait

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

Cardiac Arrhythmia - Abnormal rate or beat of the heart, which can be either fast (tachycardia) or slow (bradycardia).

FRDA - Friedreich's Ataxia.

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.