tailieunhanh - Neurology Seminars in Clinical Neurology - part 2

Đánh giá không tiết lộ bất kỳ nguyên nhân khác cho Dystonia. Di truyền • DYT1: Khởi đầu thường trong thời thơ ấu với lây lan trở thành tổng quát Dystonia. Gene bị cô lập. Thử nghiệm lâm sàng có sẵn | Diagnosis Classification and Pathophysiology of Dystonia fcABlEU3 Classification by Etiology Primary Dystonia Ceroid-lipofuscinosis Dystonia is the only sign without associated neurologi- Ataxia-telangiectasia cal findings. Neuroacanthocytosis Evaluation does not reveal any other cause for dystonia. Intraneuronal inclusion disease Genetle Juvenile Parkinsonism Parkin DYT1 Onset typically in childhood with spread to X-linked recessive become generalized dystonia. Gene isolated. Clinical testing available. Lubag X-linked dystonia-parkinsonism or DYT3 DYT2 4 7 11 13 No clinical testing available. Lesch-Nyhan syndrome Sporadie Deafness Dystonia No family history. Mitochondrial Most adult-onset dystonia. Some may have genetic MERRF MELAS basis. Leber s disease Secondary Dystonia Associated with hereditary neurologic syndromes. 3. Due to acquired exogenous causes Perinatal cerebral injury U. Dystonia Plus Encephalitis infectious and postinfectious Dopa-responsive dystonia Head trauma GCHI mutations DRD or DYT5 Pontine myelinolysis Tyrosine hydroxylase mutations Primary antiphospholipid syndrome Other biopterin deficient states Stroke Dopamine agonist responsive dystonia due to decar- Tumor boxylase deficiency Multiple sclerosis Myoclonus Dystonia Cervical cord injury or lesion 2. Other inherited degenerative disorders Peripheral injury Autosomal-dominant Drugs Rapid-onset dystonia-parkinsonism Toxins Huntington s disease Psychogenic Machado-Joseph s disease SCA3 disease 4. Dystonia due to degenerative parkinsonian disorders Other SCA subtypes Parkinson Disease DRPLA Multiple system atrophy Familial basal ganglia calcifications Progressive supranuclear palsy Autosomal-recessive Cortico basal ganglionic degeneration Wilson s Gangliosidoses Metachromatic leukodystrophy Homocystinuria Hartnup disease Glutaric acidemia Methylmalonic aciduria Hallervorden-Spatz disease Dystonic lipidosis 3 DYSTONIA ics such as perchlorpromazine or metoclopramide or antipsychotics such as .