Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.
Hereditary myoclonus-dystonia (DYT 11) is caused by the epsilon-sarcoglycan (SGCE) mutation. The clinical details and investigations of cases diagnosed with myoclonus-dystonia were reviewed. We describe 5 patients (3 families) with myoclonus-dystonia diagnosed at our center. Majority of the patients had the classical phenotype with few atypical features (adult-onset disease and onset in lower limbs). Four patients carried a mutant variant in the SGCE-gene. A diagnosis of myoclonus-dystonia should be considered in cognitively normal patients with early-onset myoclonus (that may occur both at rest and/or action) with or without dystonia and with or without psychiatric-disturbances.
Department of Neonatology, Pediatric and Adolescent Medicine, Division of Pediatric Neurology, BL Kapur Super Speciality Hospital, New Delhi, India.
Puneet
P
Jain
Department of Pediatrics, Division of Pediatric Neurology, Lady Harding Medical College and Associated Kalawati Saran Children Hospital, New Delhi, India.
Suvasini
S
Sharma
Department of Genome Analysis, Academic Medical Centre, Laboratory for Neurogenetics, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands.
Fred
F
van Ruissen
Department of Pediatrics, Division of Pediatric Neurology, Lady Harding Medical College and Associated Kalawati Saran Children Hospital, New Delhi, India.
Satinder
S
Aneja
D020821:Dystonic Disorders / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D009207:Myoclonus; D010641:Phenotype; D049031:Sarcoglycans / Q000235:genetics
C526572:SGCE protein, human; D049031:Sarcoglycans