Segawa Syndrome, Autosomal Recessive (ARSEGS)

Alias:

Tyrosine Hydroxylase Deficiency

Dystonia, Dopa-Responsive, Autosomal Recessive

Autosomal Recessive Dopa-Responsive Dystonia

Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia

Autosomal Recessive Dopa Responsive Dystonia

Autosomal Recessive Infantile Parkinsonism

Autosomal Recessive Segawa Syndrome

Segawa Syndrome, Recessive

Dyt5b

Dystonia, Dopa-Responsive, with or Without Hyperphenylalaninemia, Autosomal Recessive

Dopa-Responsive Dystonia, Autosomal Recessive

Parkinsonism, Infantile, Autosomal Recessive

Segawa Syndrome Autosomal Recessive

Th-Deficient Drd

Segawa Syndrome

Th Deficiency

Arsegs

Thd

Thy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Segawa Syndrome, Autosomal Recessive, also known as tyrosine hydroxylase deficiency, is related to myotonia congenita, autosomal dominant and alexithymia, and has symptoms including muscle rigidity, tremor and abnormality of extrapyramidal motor function. An important gene associated with Segawa Syndrome, Autosomal Recessive is TH (Tyrosine Hydroxylase). Affiliated tissues include eye and brain, and related phenotypes are ptosis and ataxia

Related ID：

MALACARDS：SGW002

OMIM：605407

MESH：D020734