Behr's syndrome

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Behr's syndrome

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Behr's syndrome (a.k.a. Behr's disease) is a hereditary disorder named after Carl Behr, who first described it in 1909. It has an autosomal recessive inheritance, although heterozygotes may still manifest much attenuated symptoms.

Behr's syndrome results in a spectrum of optic and neurological complications for both sexes. The disorder begins from early childhood with disturbance to vision, and loss or reduction in body control and co-ordination.

It includes a partial and increasing loss of vision and/or blind spot in previously normal sight; eyesight degeneration is particularly prevalent in males. Symptoms can include rapid involuntary eye movements (nystagmus), ataxia, progressive damage to nerves, nerve inflammation and unusual foot reflexes when the sole is stimulated (positive Babinski sign).

The syndrome is recessive and is not linked to sex chromosomes.

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