Segawa syndrome- autosomal recessive

Overview

A very rare birth disorder characterized mainly by involuntary jerky movements that start during infancy. The disorder is caused by a genetic defect resulting in a deficiency of an enzyme called tyrosine hydroxylase. The disorder is usually treatable by administering low doses of L-DOPA medication.

Symptoms

* Involuntary jerky movements * Rigidity * Lack of spontaneous movement * Expressionless face * Droopy eyelids * Drooling * Tremulous tongue movement * Abnormal limb tone * Mild motor development delay * Mild speech delay * Gait ataxia

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Segawa syndrome, autosomal recessive. This medical information about signs and symptoms for Segawa syndrome, autosomal recessive has been gathered from various sources, may not be fully accurate, and may not be the full list of Segawa syndrome, autosomal recessive signs or Segawa syndrome, autosomal recessive symptoms. Furthermore, signs and symptoms of Segawa syndrome, autosomal recessive may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Segawa syndrome, autosomal recessive symptoms.

Treatment

The list of treatments mentioned in various sources for Segawa syndrome, autosomal recessive includes the following list. Always seek professional medical advice about any treatment or change in treatment plans. * L-DOPA