Preferred Label : Torsion dystonia with onset in infancy;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Mostofsky et al. (1996) reported a father and his daughter with torsion dystonia that
could not be attributed to exogenous factors or other neurologic disorders. The first
signs of the disorder in both patients appeared during the first year of life. The
main manifestations included generalized dystonia with severe involvement of the legs
and mild involvement of the face and arms, no progression of symptoms after 10 years
of age, no evidence of parkinsonism, and no intellectual, cerebellar, or sensory involvement.
Among 850 cases of idiopathic torsion dystonia (128100) collected from the literature,
the authors found only 2 reports with onset before 3 years of age; the inheritance
pattern in these 2 cases was not reported. No response to dopaminergic agents excluded
dopa-responsive dystonia (128230). Mostofsky et al. (1996) suggested that the disorder
in this family may represent a distinct autosomal dominant dystonia syndrome. *FIELD*
RF 1. Mostofsky, S. H.; Blasco, P. A.; Butler, I. J.; Dobyns, W. B.: Autosomal dominant
torsion dystonia with onset in infancy. Pediat. Neurol. 15: 245-248, 1996. *FIELD*
CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 602554;
Origin ID : 602554;
UMLS CUI : C1865205;
Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
