Disease Information for Oromandibular facial dystonia syndrome

Ads
Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Facial grimacing
Facial muscle spasms
Bruxism/Teeth grinding
Muscle stiffness/rigidity
Abnormal movements/involuntary
Dysarthria
Dystonia
Extrapyramidal signs
Facial/Jaw dystonia
Forced opening/closing mouth
Gait disturbance/abnormality
Hyperkinetic Movement Disorder
Movement or gait disorder/signs
Odd body posturing
Spasms in Neck
Wry neck spasm
Difficulty Talking
Snoring
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Rule Outs
Segawa Syndrome/Infantile Parkinsonism
Associated Disease & Complications
Dyskinesia
Dystonia muscularum deformans
Extrapyramidal disease/manifestation
Oromandibular facial dystonia syndrome
Akinetic Rigid Syndrome
Primary Dystonia
Disease Mechanism & Classification
Class
CLASS/Facial area manifestation/disorder (ex)
CLASS/Muscle disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Hereditofamilial (category)
PROCESS/Hyperkinetic Movement disorders
Treatment
Drug Therapy - Indication
RX/Botulinum
Definition

A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face; The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted; Onset is usually in the first or second decade; Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified -------------(Adams et al, Principles of Neurology, 6th ed, ---------Primary dystonia accounts for 90% of cases of Dystonia; Known Hereditary genetic basis for Most of those; Usually called Dystonia mucularis deformans hereditary but Hereditary Dystonia otherwise; Primary dystonias with onset in childhood have previously been termed dystonia musculorum deformans; Childhood-onset dystonias are often inherited, usually in an autosomal dominant pattern; about half of adult-onset cases seem to have a genetic basis; In addition to the DYT1 dystonia, several other genetic forms of primary torsion dystonia have been identified; A gene locus in 8p21-q22 region has been identified in a large German American Mennonite family with cranial-cervical and limb dystonia; This dystonia, designated as DYT6, 8p21-q22, is clinically similar to DYT1 although the involvement is more generalized and includes the head and neck;

Treatment of primary dystonia consists of supportive therapy (eg, relaxation techniques, prostheses), medications, botulinum toxin injections, and surgery;

(Edit)

External Links Related to Oromandibular facial dystonia syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
Ads