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Definition

A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA.

Acronym

ARSEGS

Synonyms

Autosomal recessive DOPA-responsive dystonia
Autosomal recessive infantile parkinsonism
Dystonia, DOPA-responsive, autosomal recessive
THD
Tyrosine hydroxylase deficiency

Keywords

Parkinsonism
Dystonia

 
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