Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 15-04-2015

Symbol	DYT2
Location	1p35.1
Name	torsion dystonia 2
Other name(s)	dystonia musculorum deformans 2
Corresponding gene	HPCA
Main clinical features	onset occurred in infancy, with torticollis, facial grimacing, blepharospasm, and dystonic posturing and jerking of the upper and lower limbs generalized dystonia with difficulties in eating and inability to speak, and to walk
Genetic determination	autosomal recessive
	autosomal recessive
Function/system disorder	neuromuscular
	neuromuscular
Type	disease

Remark(s)