Torsion dystonia with onset in infancy

MedGen UID:: 400706
•Concept ID:: C1865205
•: Disease or Syndrome

Synonyms:	Autosomal dominant torsion dystonia with onset in infancy; Benign idiopathic dystonia with onset in the first year of life

Monarch Initiative:	MONDO:0011249
OMIM®:	602554

Definition

A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. [from MONDO]

Clinical features

From HPO

Torsion dystonia

MedGen UID:: 3941
•Concept ID:: C0013423
•: Disease or Syndrome

Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.

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Abnormality of the nervous system
- Torsion dystonia

Recent clinical studies

Diagnosis

Autosomal dominant torsion dystonia with onset in infancy.

Mostofsky SH, Blasco PA, Butler IJ, Dobyns WB
Pediatr Neurol 1996 Oct;15(3):245-8. doi: 10.1016/s0887-8994(96)00169-5. PMID: 8916165

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Torsion dystonia with onset in infancy

Definition

Clinical features

Recent clinical studies

Diagnosis

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