Hereditary Non-Progressive Torsion Dystonia with Intellectual Disturbance.
نویسندگان
چکیده
منابع مشابه
Hereditary non-progressive torsion dystonia with intellectual disturbance.
Three siblings of a consanguineous parents with involuntary movements are reported. The mother had only a very slight neck tremor, without any other neurological abnormality, and the father had died. The 38-year-old son (Case 1) complained of involuntary movements at the age of 6. His involuntary movements were observed in the tongue, perioral region and upper and lower extremities: jerky movem...
متن کاملEarly onset torsion dystonia (Oppenheim's dystonia)
Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. A US study estimated the prevalence at approximately 1 in 30,000. The estimated prevalence in the general population of Europe seems to be lower, ranging from 1 in 330,000 to 1 in 200,000, although precise nu...
متن کاملBrain Stimulation for Torsion Dystonia.
IMPORTANCE Dystonia is a heterogeneous neurologic disorder characterized by abnormal muscle contractions for which standard medical therapy is often inadequate. For such patients, therapeutic brain stimulation is becoming increasingly used. OBJECTIVES To review the evidence and effect sizes for treating different types of dystonia with different types of brain stimulation and to discuss recen...
متن کاملHereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability
Background Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common. Case Report We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disabili...
متن کاملNon-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were note...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Internal Medicine
سال: 1995
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.34.843