Friedreichs Ataxia Clinical Features

Friedreich's ataxia (FA) presents during childhood or adolescence with gait and limb ataxia, loss of sense of joint position and vibration, and loss of tendon reflexes. During the course of the disease, which averages from 20 to 25 years, optic atrophy, sensorineural hearing impairment, weakness and spasticity in lower extremities, Babinski sign, and dysarthria develop. Characteristic systemic manifestations include skeletal anomalies with scoliosis and pes cavus, hypertrophic cardiomyop-athy, and occasional diabetes mellitus. FA, an autosomal recessive disease, is caused by an expansion of guanine-adenine-adenine (GAA) repeats in the frataxin gene on chromosome 9. Expansion of the repeats is from 90 to more than 100. The normal number of repeats is 6 to 27.

Diabetes 2

Diabetes 2

Diabetes is a disease that affects the way your body uses food. Normally, your body converts sugars, starches and other foods into a form of sugar called glucose. Your body uses glucose for fuel. The cells receive the glucose through the bloodstream. They then use insulin a hormone made by the pancreas to absorb the glucose, convert it into energy, and either use it or store it for later use. Learn more...

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