Genus database Copyright 1980 - 2007 V. Ventruto / A.

Di Luccio

13695 jumping Frenchman of Maine syndrome

Eponyms: Latah syndrome

Myriachit-Ragin' Cajun syndrome
startle syndromes

Inheritance: supposed autosomal recessive

Semeiological Neurological disorder, isolated defect. Excessive startle, following sudden commands, accompanied by
Synthesis: jumping/swearing/echolalia/echopraxia, other involuntary fenomena.

Group LABORATORY DATA

Sub group chromosomal assignment
Signs: chromosome 5q localization
gene, structural-functional anomalies
gene analysis-DNA analysis
STHE (GLRA1) glycine receptor alpha 1,
gene 5q32
NEUROLOGICAL DISORDERS
behaviour, changes
echolalia, involuntary words repetition
echopraxia, involuntary gestures imitation
personality changes
performance changes, not including mental
retardation
increased startle reaction, hyperekplexia

Super group:

Super aggreg.
Aggregations:

Differential 13455 Isaacs-Mertens syndrome

diagnosis: 14090 Kok disease
24480 stiff man disease

Bibliography OMIM ID: 244100

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