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| Behr's syndrome ： ウィキペディア英語版 |
Behr syndrome
Behr syndrome is an autosomal recessive genetic disorder named after Carl Behr, who first described it in 1909.
Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms.
==Diagnosis==
Behr 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 spots. Eyesight degeneration is particularly prevalent in males. Symptoms can also include rapid involuntary eye movements (nystagmus), ataxia, progressive damage to nerves, nerve inflammation, mental retardation, urinary incontinence, and unusual foot reflexes when the sole is stimulated (positive Babinski sign).
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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