stiff baby syndrome

An autosomal dominant [MIM 149400] and autosomal recessive disease of variable penetration, which is characterised by increased startle reflex and virtually continuous motor activity by EMG

stiff baby syndrome

Hereditary stiff-man syndrome An AD complex of variable penetration, characterized by ↑ startle reflex and virtually continuous motor activity by EMG Clinical Choking, vomiting, dysphagia, which may improve with age. Cf Floppy infant syndrome, Stiff man syndrome.

stiff baby syndrome

An inherited disorder marked by muscular rigidity that appears in the first days of life. It may be associated with an excessive startle response, apnea, gait disturbance, or regurgitation of foods.
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References in periodicals archive ?
[8-9] Several other variants have also been described, such as stiff baby syndrome and stiff limb syndrome.
Hereditary stiff baby syndrome. Am J Dis Child 1981;135(10):909-911.
This condition is also known as 'stiff baby syndrome' or 'startle disease' Hyperekplexia can present in major and minor forms and is caused by a mutation in chromosome 5 which results in a defect in the [alpha]-1 subunit of the inhibitory glycine receptors in the caudal pontine reticular formation leading to neuronal hyperexcitability.