Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp
| Autor: | Enza Maria Valente, Carla Cordivari, Vasiliki Koukouni, Kailash P. Bhatia, Niall Quinn |
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| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Myoclonus congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Adolescent DNA Mutational Analysis Neurological disorder Gene mutation medicine.disease_cause Arginine Young Adult SGCE Sarcoglycans otorhinolaryngologic diseases medicine Humans Dystonia Family Health Mutation Writer's cramp medicine.disease nervous system diseases Neurology Dystonic Disorders Female Neurology (clinical) Presentation (obstetrics) medicine.symptom Psychology Neuroscience |
| Popis: | Inherited myoclonus dystonia (M-D, DYTH) is an autosomal dominant dystonia-plus syndrome, which in many families is caused by mutations in the SGCE/tepsilon-sarcoglycan gene. We present a family with M-D, with an unusual presentaion characterized by infantile onset with falls in two sisters and adult-onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol-sensitive myoclonie jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed. (C) 2008 Movement Disorder Society |
| Databáze: | OpenAIRE |
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