Objective: We report two cases of mother and daughter, both having different expressions of dystonic movements.

Background: One of rare dystonic disorders is Segawa syndrome which is inherited as an autosomal-dominant trait, belongs to the metabolic diseases and can be medically treated. The cause of this syndrome is the mutation of the GCH-1 gene which encodes the enzyme called guanosine triphosphate cyclohydrolase 1. This enzyme is important for the development of dopamine and the lack of it causes severe movement changes.one of rare dystonic disorders is Segawa syndrome which is inherited as an autosomal-dominant trait, belongs to the metabolic diseases and can be medically treated. The cause of this syndrome is the mutation of the GCH-1 gene which encodes the enzyme called guanosine triphosphate cyclohydrolase 1. This enzyme is important for the development of dopamine and the lack of it causes severe movement changes.

Method: We describe the onset age and clinical features of mother and daughter, both having dystonic movements.

Results: The daughter developed with 8 years abnormal gait, which progressed within one year to dystonic movements of the whole body. The diurnal fluctuation of the symptoms with worsening in the evening gave us the reason to think about Segawa syndrome. The genetic investigations in Chiba University Hospital, Japan, confirmed the GCH-1 gene mutation. 4 years before the daughter developed symptoms, the 30 years old mother claimed eye blinking for several years misdiagnosed as a simple tic. After 5 years of unsuccessful treatment cheek lifting muscles were involved into dystonic movements, and later all mimic muscles, whereas no other movement disturbance was noticed.

Conclusion: The mother and daughter revealed two different clinical pictures of the dopa-responsive dystonia with different age of onset.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/different-clinical-entities-of-segawa-syndrome-within-a-family/