Disease Information for Myoclonic dystonia/DYT11 (11q23)

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Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Cramping in Extremities
Muscle stiffness/rigidity
Abnormal movements/involuntary
Dystonia
Gait disturbance/abnormality
Hyperkinetic Movement Disorder
Involuntary Leg Movement Standing
Movement or gait disorder/signs
Myoclonus/Myoclonic jerks on exam
Polymyoclonus
Spasms in Neck
Tremor
Tremor in Children
Wry neck spasm
Associated Diseases & Rule outs
Rule Outs
Myoclonic encephalopathy/childhood
Segawa Syndrome/Infantile Parkinsonism
Associated Disease & Complications
Akinetic Rigid Syndrome
Primary Dystonia
Disease Mechanism & Classification
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 11q23
Pathophysiology/Gene locus Chromosome 11
Pathophysiology/Gene locus Chromosome 11q
Pathophysiology/Gene locus Chromosome 17
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/DYT11 Gene mutation
Process
PROCESS/Hereditofamilial (category)
PROCESS/Hereditary ataxia disorder (ex)
PROCESS/Hyperkinetic Movement disorders
Definition

gene locus 11q23 and 7q21; Myoclonus, General; Subdivisions:Action Myoclonus; Arrhythmic Myoclonus; Dyssynergia Cerebellaris Myoclonica; Familial Arrhythmic Myoclonus; Hereditary Essential Myoclonus; Infantile Myoclonic Encephalopathy and Polymyoclonia; Intention Myoclonus; Nocturnal Myoclonus; Opsoclonus; Palatal Myoclonus; Paramyoclonus Multiple; Pathological Myoclonus; Postanoxic Intention Myoclonus; Postencephalitic Intention Myoclonus; Progressive Myoclonic Epilepsy; Respiratory Myoclonus; Rhythmical Myoclonus; Segmental Myoclonus; Stimulus-Sensitive Myoclonus;

Myoclonus is a neurological movement disorder characterized by sudden, involuntary contractions of skeletal muscles; Based on the various symptoms, there are three types of Myoclonus: Intention Myoclonus, Rhythmical Myoclonus, and Arrhythmic Myoclonus; Intention Myoclonus (Action Myoclonus) includes Postanoxic Myoclonus and Postencephalitic Myoclonus;

Arrhythmic Myoclonus (stimulus-sensitive myoclonus) includes: Hereditary Essential Myoclonus (paramyoclonus multiplex), Hyperexplexia (Essential Startle Disease), Opsoclonus (Infantile Myoclonic Encephalopathy, Polymyoclonia Familial Arrhythmic Myoclonus), Progressive Myoclonic Epilepsy, Ramsay Hunt Syndrome (Dyssynergia Cerebellaris Myoclonia);

Rhythmical Myoclonus includes (Segmental Myoclonus), Nocturnal Myoclonus, Palatal Myoclonus, and Respiratory Myoclonus--------[NORD]-----------

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External Links Related to Myoclonic dystonia/DYT11 (11q23)
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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