Friedreich's ataxia is caused by a trinucleotide repeat expansion. Most individuals normally have approximately 25 repeats but affected individuals have up to 100 repeats and some up to 1,000 repeats have been identified. Expansion occurs in the frataxin gene region causing a decrease in the amount of protein synthesized.
The nucleotides GAA repeat.
Repeats occur in the frataxin gene.
Reduced levels of the frataxin protein results in mitochondrial dysfunction.
This disease is inherited in an autosomal recessive fashion.
Also called contracted toe, hammer toes refer to a deformity in the proximal interphalangeal joint of second, third, and fourth toes that cause it to be bent permanently. This deformity causes the toe to look like a hammer.
Also called pes cavus deformity, high arches describes a foot type with extremely high arches between the ball and heel of the foot.
A musculoskeletal disorder caused by abnormal curvature of the spine.
The lateral corticospinal tract consists of an upper motor neuron that descends from the cerebral cortex, decussates in the medulla, and proceeds down to the contralateral side of the spinal cord. The lateral corticospinal tract leaves out the anterior horns of the spinal cord and controls fine movement of the ipsilateral limbs, which are contralateral to the respective motor cortex.
The white matter tract in the dorsomedial side of the spinal cord. This tract contains ascending fibers important for fine touch, vibration, pressure, and proprioception.
Set of fibers that begin in the spinal cord and terminate in the ipsilateral cerebellum that conveys information about limb and joint position. This tract is especially important for fine movement and damage to this tract can cause ataxia.
About 20% of patients with this disease have difficulties controlling blood sugar and about 10% develop Type 1 Diabetes Mellitus.
The majority of patients demonstrate cardiac involvement, especially hypertrophic cardiomyopathy. This is the most common cause for death of patients with Friedreich's ataxia.
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