Publication:

Hereditary myoclonus dystonia - rare entity diagnosed in younger children: report of a sporadic case with atypical features

Hereditary myoclonus dystonia is a rare movement disorder characterized with combination of myoclonic jerks with mild to moderate dystonia. Mostly caused due to changes in SGCE gene. Author report case of a 3 years old girl with atypical features of lower limb onset, mild dystonia, upper limb and neck myoclonic jerks and younger onset. She was detected to have pathogenic variant of SGCE gene. A diagnosis of myoclonus dystonia should be considered at an early age also like in our case so that treatment is initiated early for better results and improved quality of life and development.