Synonyms:
a.k.a. Familial startle disease
Diagnosis:
This is a clinical diagnosis
Genetics:
- Autosomal dominant, autosomal recessive (frame shift)
- Glycine Receptor alpha subunit GLRA1 5q32
Clinical features:
Infants: stiff (except when sleeping), excessive startle response
Older patients: Sudden myoclonus or falling
Spastic paraparesis in one family
Precipitated by sudden stimuli
Treatment:
Responds to benzodiazepines