An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.
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, p1078)
A symptom, not a disease, of a twisted neck. In most instances, the head is tipped toward one side and the chin rotated toward the other. The involuntary muscle contractions in the neck region of patients with torticollis can be due to congenital defects, trauma, inflammation, tumors, and neurological or other factors.
Drugs used in the treatment of movement disorders. Most of these act centrally on dopaminergic or cholinergic systems. Among the most important clinically are those used for the treatment of Parkinson disease (ANTIPARKINSON AGENTS) and those for the tardive dyskinesias.
Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle.
A syndrome characterized by orofacial DYSTONIA; including BLEPHAROSPASM; forceful jaw opening; lip retraction; platysma muscle spasm; and tongue protrusion. It primarily affects older adults, with an incidence peak in the seventh decade of life. (From Adams et al., Principles of Neurology, 6th ed, p108)
The representation of the phylogenetically oldest part of the corpus striatum called the paleostriatum. It forms the smaller, more medial part of the lentiform nucleus.
A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)
Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
Therapy for MOVEMENT DISORDERS, especially PARKINSON DISEASE, that applies electricity via stereotactic implantation of ELECTRODES in specific areas of the BRAIN such as the THALAMUS. The electrodes are attached to a neurostimulator placed subcutaneously.
Toxic proteins produced from the species CLOSTRIDIUM BOTULINUM. The toxins are synthesized as a single peptide chain which is processed into a mature protein consisting of a heavy chain and light chain joined via a disulfide bond. The botulinum toxin light chain is a zinc-dependent protease which is released from the heavy chain upon ENDOCYTOSIS into PRESYNAPTIC NERVE ENDINGS. Once inside the cell the botulinum toxin light chain cleaves specific SNARE proteins which are essential for secretion of ACETYLCHOLINE by SYNAPTIC VESICLES. This inhibition of acetylcholine release results in muscular PARALYSIS.
Drugs used for their actions on skeletal muscle. Included are agents that act directly on skeletal muscle, those that alter neuromuscular transmission (NEUROMUSCULAR BLOCKING AGENTS), and drugs that act centrally as skeletal muscle relaxants (MUSCLE RELAXANTS, CENTRAL). Drugs used in the treatment of movement disorders are ANTI-DYSKINESIA AGENTS.
The distal part of the arm beyond the wrist in humans and primates, that includes the palm, fingers, and thumb.
A family of cellular proteins that mediate the correct assembly or disassembly of polypeptides and their associated ligands. Although they take part in the assembly process, molecular chaperones are not components of the final structures.
A serotype of botulinum toxins that has specificity for cleavage of SYNAPTOSOMAL-ASSOCIATED PROTEIN 25.
A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)
A portion of the nucleus of ansa lenticularis located medial to the posterior limb of the internal capsule, along the course of the ansa lenticularis and the inferior thalamic peduncle or as a separate nucleus within the internal capsule adjacent to the medial GLOBUS PALLIDUS (NeuroNames, http://rprcsgi.rprc. washington.edu/neuronames/ (September 28, 1998)). In non-primates, the entopeduncular nucleus is analogous to both the medial globus pallidus and the entopeduncular nucleus of human.
The naturally occurring form of DIHYDROXYPHENYLALANINE and the immediate precursor of DOPAMINE. Unlike dopamine itself, it can be taken orally and crosses the blood-brain barrier. It is rapidly taken up by dopaminergic neurons and converted to DOPAMINE. It is used for the treatment of PARKINSONIAN DISORDERS and is usually given with agents that inhibit its conversion to dopamine outside of the central nervous system.
(GTP cyclohydrolase I) or GTP 7,8-8,9-dihydrolase (pyrophosphate-forming) (GTP cyclohydrolase II). An enzyme group that hydrolyzes the imidazole ring of GTP, releasing carbon-8 as formate. Two C-N bonds are hydrolyzed and the pentase unit is isomerized. This is the first step in the synthesis of folic acid from GTP. EC 3.5.4.16 (GTP cyclohydrolase I) and EC 3.5.4.25 (GTP cyclohydrolase II).
Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres.
One of the centrally acting MUSCARINIC ANTAGONISTS used for treatment of PARKINSONIAN DISORDERS and drug-induced extrapyramidal movement disorders and as an antispasmodic.
Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES.
Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)
Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)
An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.
Muscles of facial expression or mimetic muscles that include the numerous muscles supplied by the facial nerve that are attached to and move the skin of the face. (From Stedman, 25th ed)
Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES.
A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.
Value of all final goods and services produced in a country in one year.
A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.
Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.
Mechanical food dispensing machines.
The guidelines and policy statements set forth by the editor(s) or editorial board of a publication.
The profession of writing. Also the identity of the writer as the creator of a literary production.
A publication issued at stated, more or less regular, intervals.
The functions and activities carried out by the U.S. Postal Service, foreign postal services, and private postal services such as Federal Express.
A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.
Difficulty and/or pain in PHONATION or speaking.
The neck muscles consist of the platysma, splenius cervicis, sternocleidomastoid(eus), longus colli, the anterior, medius, and posterior scalenes, digastric(us), stylohyoid(eus), mylohyoid(eus), geniohyoid(eus), sternohyoid(eus), omohyoid(eus), sternothyroid(eus), and thyrohyoid(eus).
Pathological processes that affect voice production, usually involving VOCAL CORDS and the LARYNGEAL MUCOSA. Voice disorders can be caused by organic (anatomical), or functional (emotional or psychological) factors leading to DYSPHONIA; APHONIA; and defects in VOICE QUALITY, loudness, and pitch.
A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.
Health services required by a population or community as well as the health services that the population or community is able and willing to pay for.
Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.

DYT1 mutation in French families with idiopathic torsion dystonia. (1/432)

A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 years (mean, 9+/-4 years). Interestingly, the site of onset was the upper limb in all but one patient. Dystonia was generalized in seven patients and remained focal or segmental in three patients. The absence of common haplotypes among DYT1 families suggests that at least six independent founder mutations have occurred. In addition, one Ashkenazi Jewish family carried the common haplotype described previously in Ashkenazi Jewish patients, but it was absent in the other family. Moreover, the dystonia remained focal in the latter family when compared with the usual generalized phenotype in patients with the common Ashkenazi Jewish haplotype. This indicates that there are at least two founder mutations in this population.  (+info)

Human deafness dystonia syndrome is a mitochondrial disease. (2/432)

The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. We show now that DDP is a mitochondrial protein and similar to five small proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) of the yeast mitochondrial intermembrane space. Tim9p, Tim10p, and Tim12p mediate the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane and interact structurally and functionally with Tim8p and Tim13p. DDP is most similar to Tim8p. Tim8p exists as a soluble 70-kDa complex with Tim13p and Tim9p, and deletion of Tim8p is synthetically lethal with a conditional mutation in Tim10p. The deafness dystonia syndrome thus is a novel type of mitochondrial disease that probably is caused by a defective mitochondrial protein-import system.  (+info)

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. (3/432)

Hereditary autosomal dominant myoclonus dystonia (MD) is a movement disorder characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Although various large families with MD have been described, no positive linkage has been found to a chromosomal location. We report a family with eight members with MD. Linkage analysis identified a 23-centimorgan region on chromosome 11q23 that cosegregates with the disease state (maximum multipoint logarithm of odds score = 2.96 at D11S897). This region contains an excellent candidate gene for involvement in the etiology of MD, the D2 dopamine receptor (DRD2) gene. Neurotransmission mediated by DRD2 is known to have a key role in the control of movement and also has been implicated in reward and reinforcement mechanisms and psychiatric disorders. Sequencing of the coding region of DRD2 indicated that all affected and obligate carriers were heterozygous for a Val154Ile change in exon 3 of the protein, which is highly conserved across species. This change was found neither in other unaffected members of the pedigree nor in 250 control chromosomes. Our finding provides evidence for the involvement of DRD2 in a disorder of the central nervous system and should lead to further insight into the function of the dopaminergic system in dystonia and other movement and mood disorders.  (+info)

From off-period dystonia to peak-dose chorea. The clinical spectrum of varying subthalamic nucleus activity. (4/432)

The effect of chronic bilateral high-frequency stimulation of the subthalamic nucleus (STN) on levodopa-induced dyskinaesias was investigated in eight patients with fluctuating Parkinson's disease complicated by functionally disabling off-period dystonia. All of the patients also had severe diphasic and peak-dose chorea, so that it was possible to study the effect of high-frequency stimulation on the different types of levodopa-induced dyskinaesias. Off-period fixed dystonia was reduced by 90% and off-period pain by 66%. After acute levodopa challenge, high-frequency stimulation of the STN reduced diphasic mobile dystonia by 50% and peak-dose choreic dyskinaesias by 30%. The effect of bilateral high-frequency stimulation of the STN on the Unified Parkinson's Disease Rating Scale motor score had the same magnitude as the preoperative effect of levodopa. This allowed the levodopa dose to be reduced by 47%. The combination of reduced medication and continuous high-frequency stimulation of the STN reduced the duration of on-period diphasic and peak-dose dyskinaesias by 52% and the intensity by 68%. Acute high-frequency stimulation of the STN mimics an acute levodopa challenge, concerning both parkinsonism and dyskinaesias, and suppresses off-period dystonia. Increasing the voltage can induce repetitive dystonic dyskinaesias, mimicking diphasic levodopa-induced dyskinaesias. A further increase in voltage leads to a shift from a diphasic-pattern dystonia to a peak-dose pattern choreodystonia. Chronic high-frequency stimulation of the STN also mimics the benefit of levodopa on parkinsonism and improves all kinds of levodopa-induced dyskinaesias to varying degrees. Off-period dystonia, associated with neuronal hyperactivity in the STN is directly affected by stimulation and disappears immediately. The effect of chronic high-frequency stimulation of the STN on diphasic and peak-dose dyskinaesias is more complex and is related directly to the functional inhibition of the STN and indirectly to the replacement of the pulsatile dopaminergic stimulation by continuous functional inhibition of the STN. Chronic high-frequency stimulation of the STN allows a very gradual increase in stimulation parameters with increasing beneficial effect on parkinsonism while reducing the threshold for the elicitation of stimulation-induced dyskinaesias. In parallel with improvement of parkinsonism, the levodopa dose can be gradually decreased. As diphasic dystonic dyskinaesias are improved to a greater degree than peak-dose dyskinaesias, both direct and indirect mechanisms may be involved. Peak-dose choreatic dyskinaesias, associated with little evidence of parkinsonism and thus with low neuronal activity in the STN, are improved, mostly indirectly. Fixed off-period dystonia, mobile diphasic dystonia and peak-dose choreodystonia seem to represent a continuous clinical spectrum reflecting a continuous spectrum of underlying activity patterns of STN neurons.  (+info)

Generalised muscular weakness after botulinum toxin injections for dystonia: a report of three cases. (5/432)

Three patients are reported on who developed transient generalised weakness after receiving therapeutic doses of botulinum toxin for cervical dystonia (one case) and symptomatic hemidystonia (two cases) respectively. Clinical and electrophysiological findings were in keeping with mild botulism. All patients had received previous botulinum toxin injections without side effects and one patient continued injections without recurrence of generalised weakness. The cause is most likely presynaptic inhibition due to systemic spread of the toxin. Patients with symptomatic dystonia may be more likely to have this side effect and botulinum toxin injections in these patients should be carried out cautiously.  (+info)

Clinical genetics of familial progressive supranuclear palsy. (6/432)

Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable including 34 typical cases of PSP (12 probands plus 22 secondary cases), three patients with postural tremor, three with dementia, one with parkinsonism, two with tremor, dystonia, gaze palsy and tics, and one with gait disturbance. The presence of affected members in at least two generations in eight of the families and the absence of consanguinity suggests autosomal dominant transmission with incomplete penetrance. We conclude that hereditary PSP is more frequent than previously thought and that the scarcity of familial cases may be related to a lack of recognition of the variable phenotypic expression of the disease.  (+info)

Abnormal cortical processing of voluntary muscle relaxation in patients with focal hand dystonia studied by movement-related potentials. (7/432)

In order to clarify the abnormality in cortical motor preparation for voluntary muscle relaxation of the hand in patients with focal hand dystonia, Bereitschaftspotentials (BPs) preceding voluntary muscle contraction and relaxation were recorded in eight patients (three with simple writer's cramp and five with dystonic writer's cramp), and were compared with those from 10 normal subjects. Voluntary muscle relaxation: after keeping the right wrist in an extended position for > 5 s, the subject let the hand drop by voluntarily terminating muscle contraction of the wrist extensor without any associated muscle contraction. Voluntary muscle contraction: the right wrist was flexed by voluntarily contracting the wrist flexor muscle. Scalp EEGs were recorded from 11 electrodes placed over the frontal, central and parietal areas. In the control group, the BP measured at the movement onset was maximal at the left central area (C1), and distributed predominantly over the left hemisphere equally in both the contraction and relaxation tasks. In the focal hand dystonia group, BP was maximal at C1 in the contraction task, whereas, in the relaxation task, it was maximal at the midline central area (Cz) and symmetrically distributed. At the left central area, the BP amplitude in the focal hand dystonia group was diminished significantly in the relaxation task compared with the contraction task (P < 0.05). The present results demonstrate for the first time that the cortical preparatory process for voluntary muscle relaxation, or motor inhibition, is abnormal in focal hand dystonia.  (+info)

Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group. (8/432)

OBJECTIVES: Little is known about factors influencing the spread of blepharospasm to other body parts. An investigation was carried out to deterrmine whether demographic features (sex, age at blepharospasm onset), putative risk, or protective factors for blepharospasm (family history of dystonia or tremor, previous head or face trauma with loss of consciousness, ocular diseases, and cigarette smoking), age related diseases (diabetes, hypertension), edentulousness, and neck or trunk trauma preceding the onset of blepharospasm could distinguish patients with blepharospasm who had spread of dystonia from those who did not. METHODS: 159 outpatients presenting initially with blepharospasm were selected in 16 Italian Institutions. There were 104 patients with focal blepharospasm (mean duration of disease 5.3 (SD 1.9) years) and 55 patients in whom segmental or multifocal dystonia developed (mainly in the cranial cervical area) 1.5 (1.2) years after the onset of blepharospasm. Information was obtained from a standardised questionnaire administered by medical interviewers. A Cox regression model was used to examine the relation between the investigated variables and spread. RESULTS: Previous head or face trauma with loss of consciousness, age at the onset of blepharospasm, and female sex were independently associated with an increased risk of spread. A significant association was not found between spread of dystonia and previous ocular diseases, hypertension, diabetes, neck or trunk trauma, edentulousness, cigarette smoking, and family history of dystonia or tremor. An unsatisfactory study power negatively influenced the validity and accuracy of the negative findings relative to diabetes, neck or trunk trauma, and cigarette smoking. CONCLUSIONS: The results of this exploratory study confirm that patients presenting initially with blepharospasm are most likely to experience some spread of dystonia within a few years of the onset of blepharospasm and suggest that head or face trauma with loss of consciousness preceding the onset, age at onset, and female sex may be relevant to spread. The suggested association between edentulousness and cranial cervical dystonia may be apparent because of the confounding effect of both age at onset and head or face trauma with loss of consciousness. The lack of influence of family history of dystonia on spread is consistent with previous findings indicating that the inheritance pattern is the same for focal and segmental blepharospasm.  (+info)

Definition of acute dystonic reaction in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is acute dystonic reaction? Meaning of acute dystonic reaction as a legal term. What does acute dystonic reaction mean in law?
Primary dystonias are rare disorders characterized by involuntary, sustained muscle contractions that cause twisting movements and abnormal postures. Clinical presentation is variable and it also includes adult-onset focal dystonia (FD), in which only one region of the body is affected. Cervical dystonia is the most common form of FD, followed by blepharospasm, oromandibular dystonia, laryngeal dystonia, and limb dystonia (writers cramp).1,2 From Oppenheimers classic description of generalized dystonias in 1911 to the first international dystonia symposium in 1975, Fahn and Eldridges first definition and classification for dystonias, and Mardens definition of FD in 1976, the pathophysiology has been and remains obscure.2 The neuroanatomical basis for dystonia has changed substantially from the previous concept of isolated dysfunction of basal ganglia to the most recent thinking that dystonia is a network disorder resulting from dysfunction in multiple and varied areas of the brain ...
When dystonia affects only one part of the body, it is called focal dystonia.. Segmental dystonia affects two or more connected body areas (for example the neck, shoulder, and arm). If two or more areas in different parts of the body are affected, the dystonia is termed multifocal(for example the eyes and vocal cords).. Generalized dystonia refers to dystonia that may affect the limbs, trunk, and other major body areas simultaneously. The term axial dystonia describes dystonia that specifically affects the torso.. When dystonia only affects muscles on one side of the body, it is called hemidystonia. Certain dystonias are labeled task-specific which means that the symptoms occur only when the person is performing a specific task or movement. These forms often involve the fingers and hands or the mouth.. If symptoms only occur in episodes that last for minutes or hours, the terms paroxysmal dystonia and dyskinesias are used.. The word torsion is sometimes used, usually in reference to ...
Another name for Acute Dystonic Reaction is Acute Dystonic Reaction. What is an acute dystonic reaction? A person with an acute dystonic reaction has ...
Within the past few years, there has been a renaissance of functional neurosurgery for the treatment of dystonic movement disorders. In particular, deep brain stimulation (DBS) has widened the spectrum of therapeutical options for patients with otherwise intractable dystonia. It has been introduced only with a delay after DBS became an accepted treatment for advanced Parkinson disease (PD). In this overview, the authors summarize the current status of its clinical application in dystonia. Deep brain stimulation for dystonia has been developed from radiofrequency lesioning, but it has replaced the latter largely in most centers. The main target used for primary dystonia is the posteroventral globus pallidus internus (GPi), and its efficacy has been shown in generalized dystonia, segmental dystonia, and complex cervical dystonia. The optimal target for secondary dystonias is still unclear, but some patients appear to benefit more from thalamic stimulation. The improvement of dystonia with chronic DBS
Within the past few years, there has been a renaissance of functional neurosurgery for the treatment of dystonic movement disorders. In particular, deep brain stimulation (DBS) has widened the spectrum of therapeutical options for patients with otherwise intractable dystonia. It has been introduced only with a delay after DBS became an accepted treatment for advanced Parkinson disease (PD). In this overview, the authors summarize the current status of its clinical application in dystonia. Deep brain stimulation for dystonia has been developed from radiofrequency lesioning, but it has replaced the latter largely in most centers. The main target used for primary dystonia is the posteroventral globus pallidus internus (GPi), and its efficacy has been shown in generalized dystonia, segmental dystonia, and complex cervical dystonia. The optimal target for secondary dystonias is still unclear, but some patients appear to benefit more from thalamic stimulation. The improvement of dystonia with chronic DBS
Rapid onset dystonia Parkinsonism (RDP), a hereditary form of dystonia, is characterized by the abrupt onset of slowness of movement and dystonic symptoms.
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TY - JOUR. T1 - Thalamic post-inhibitory bursting occurs in patients with organic dystonia more often than controls. AU - Kobayashi, K.. AU - Liu, C. C.. AU - Jensen, A. L.. AU - Vitek, J. L.. AU - Mari, Z.. AU - Lenz, F. A.. PY - 2013/12/6. Y1 - 2013/12/6. N2 - We now test the hypothesis that post-inhibitory bursting in the human pallidal receiving nucleus of the thalamus (ventral oral) mediates inhibitory pallido-thalamic transmission during dystonia. We have compared thalamic single neuron activity in nine patients with organic dystonia to that in a patient with psychogenic dystonia (Psyd) and in healthy waking monkeys. In organic dystonia, EMG power is commonly concentrated at the lowest frequency of the smoothed autopower spectrum (0.39 Hz). Therefore, segments of spike trains with a signal-to-noise ratio ≥2 at 0.39 Hz were termed dystonia frequency (DF) segments, which occurred more commonly during dystonia related to movement. Those with a SNR,2 were termed non-dystonia frequency (nDF) ...
Object. The authors studied the long-term efficacy of deep brain stimulation (DBS) of the posteroventral lateral globus pallidus internus up to 2 years postoperatively in patients with primary non-DYT1 generalized dystonia or choreoathetosis. The results are briefly compared with those reported for DBS in DYT1 dystonia (Oppenheim dystonia), which is caused by the DYT1 gene.. Methods. Enrollment in this prospective expanded pilot study was limited to adult patients with severely disabling, medically refractory non-DYT1 generalized dystonia or choreoathetosis. Six consecutive patients underwent follow-up examinations at defined intervals of 3 months, 1 year, and 2 years postsurgery. There were five women and one man, and their mean age at surgery was 45.5 years. Formal assessments included both the Burke-Fahn-Marsden dystonia scale and the recently developed Unified Dystonia Rating Scale. Two patients had primary generalized non-DYT1 dystonia, and four suffered from choreoathetosis secondary to ...
Another name for Acute Dystonic Reaction is Acute Dystonic Reaction. Notify your doctor for an acute dystonic reaction and any of the following: * Muscle ...
Dystonia is a movement disorder that causes the muscles to contract and spasm involuntarily. The neurological mechanism that makes muscles relax when they are not in use does not function properly. Opposing muscles often contract simultaneously as if they are competing for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures. There are approximately 13 forms of dystonia, and dozens of diseases and conditions include dystonia as a major symptom.. Click Here for Frequently Asked Questions About Dystonia. Dystonia may affect a single body area or be generalized throughout multiple muscle groups. Dystonia affects men, women, and children of all ages and backgrounds.. Primary dystonia affects an estimated 300,000 people in the United States and Canada. But that is just the tip of the iceberg when it comes to understanding the true prevalence of all dystonias.. Secondary dystonias that are ...
An acute dystonic reaction consists of sustained, often painful muscular spasms, producing twisting abnormal postures. 50% occur within 48 hours of initiation of the neuroleptic. 90% occur within 5 days. These reactions are more common with parental then oral medications. Theyre more common in the younger patients, and more common in males than females in the young age group. Approximately 3 to 10% of patients exposed to neuroleptics will experience an acute dystonic reaction. Haldol and the long acting. injected fluphenazines have the highest incidence of these reactions. The risk is higher in patients with a prior history of a similar reaction or a family history of dystonia. The order of the most frequent types include neck dystonia 30%, tongue dystonia 17%, jaw dystonia 15%, oculorgyric crisis (eyes rolling back, and neck arching) 6%, and opisthotonus (body arching) 3.5%. The movements than may fluctuate over hours and temporarily abate in response to reassurance. This can cause an ...
Terms used to describe X-linked dystonia-parkinsonism include: (XDP), Lubag. Symptoms. XDP is a recessive disorder affecting males almost exclusively. It is characterized by both dystonia and parkinsonism including signs and symptoms such as slow movement (bradykinesia), tremor, rigidity, and a loss of postural reflexes. With disease progression, the dystonia usually becomes generalised. In some patients, signs of parkinsonism may accompany, precede, or replace symptoms of dystonia. The disease is transmitted through unaffected females, so-called carriers. A few cases have been described in which females who carry a copy of the disease gene may manifest mild symptoms of the disorder, such as relatively mild dystonia or chorea.. XDP is a primarily adult-onset disease starting at age 35 on average with a wide span of onset ranging from late adolescence to the early sixties.. Cause ...
DE NEWSLETTER Summer 2019. Dear all, In the summer of 2013 I became a board member of Dystonia Europe. The last 6 years seems to have passed by very fast and my term as a Dystonia Eu-rope Board Member, the last 4 years as President is coming to an end. It has been very inspiring and I am thankful to have met so many people that use their free time to work for other people with dystonia and the people who have yet to be diagnosed. These people are within our member organisations, who themselves live with the challenges of dystonia. Also medical professionals who devote year after year, fighting for dystonia patients to be better treat-ed, better known, faster diagnosis and hopefully in the end a cure. We are very grateful for all the great work that is taking place around Europe for dystonia patients and their families. Together we are stronger and it is only by working together we can make a difference for dystonia. Again a great thank you to those who founded Euro-pen Federation of Dystonia in ...
Globus pallidus pars interna (GPi) deep brain stimulation (DBS) is efficacious for reduction of medically refractory, primary, generalised dystonia and subtypes of acquired dystonia,1 but there is little evidence supporting the efficacy of DBS in dystonia acquired after stroke or traumatic brain injury (TBI).. Dystonia has been reported in up to 4% of patients with post-stroke2 and up to 20% of patients after severe TBI.3 Patients who develop dystonia after stroke or TBI are typically adolescents/young adults, in whom dystonia manifests in days to years after the initial event. Brain MRI abnormalities are often present, typically in the basal ganglia. The most frequent type of dystonia observed in this population is hemidystonia, which is usually refractory to medical management.3 Since young adults are predominantly afflicted and the dystonia is often medically refractory, this population experiences significant disability for the majority of their lifetime ...
BACKGROUND: The syndrome of fixed dystonia includes both CRPS-dystonia and psychogenic dystonia. The underlying mechanisms are unclear, but a high prevalence of neuropsychiatric illness has previously been reported. METHODS: Clinical and neuropsychiatric follow-up study by telephone and self-administered instruments (HADS, SDQ-20, DES II, EQ-5D), on 41 patients with fixed dystonia after a mean of 7.6 (+/-3.6) years. RESULTS: We obtained information on clinical outcome in 35 (85.4%) patients and neuropsychiatric questionnaire data in 22 (53.7%). Eighty-three percent were women. Thirty-one percent had worsened, 46% were the same and 23% had improved, of whom 6% had major remissions. At follow-up, mean duration of illness was 11.8 (+/-4.9) years and mean age 43.2 (+/-14.8) years. Except for 1 patient who was re-diagnosed with corticobasal degeneration, the diagnosis remained unchanged in others. Forty-one percent had scores indicating anxiety and 18% indicating depression; 18% scored within the ...
X-linked dystonia Parkinsonism (XDP) is a genetic form of dystonia that includes symptoms of both dystonia and Parkinsonism. Dystonia Research Foundation.
Dystonia in Parhnsons Disease: Clinical and Pharmacological Features W. H. Poewe, MD, A. J. Lees, MD,t and G. M. Stern, M D t We studied the features of dystonia in 9 patients with untreated idiopathic Parkinsons disease and in 56 patients on sustained treatment with L-dopa Dystonia was seen as an initial symptom in patients with both early- and late-onset Parkinsons disease and included action dystonia of the limbs and cranial dystonia Although the coexistence of parkinsonism and dystonia suggests a common pathophysiology, antiparkinsonian drugs did not consistently influence dystonic spasms. L-dopa-induced dystonia was seen as an off-period, biphasic, or peak-dose phenomenon. Each type showed a distinctive pattern of localization of dystonic spasms, possibly reflecting neurochemical aspects of basal ganglia somatotopy. Neuropharmacological studies performed in 12 patients suggest that off-period dystonia is genuinely induced by L-dopa and best relieved by antiparkinsonian agents. Poewe WH, ...
With increasing understanding of dystonia genetic etiologies and pathophysiology there has been renewed scrutiny and reappraisal of dystonia classification schemes and nomenclature. One important category that includes both clinical and etiologic criteria is primary dystonia. This editorialized review discusses the impact of recent findings on primary dystonia criteria and argues that it remains useful in clinical and research practice. © 2013 Movement Disorder Society.
There is an ongoing debate whether essential tremor (ET) represents a monosymptomatic disorder or other neurologic symptoms are compatible with the diagnosis of ET. Many patients with clinically definite ET develop dystonia. It remains unknown whether tremor associated with dystonia represent a subtype of ET. We hypothesized that ET with dystonia represents a distinct subtype of ET. We studied patients diagnosed with familial ET and dystonia. We included only those patients whose first-degree relatives met diagnostic criteria for ET or dystonia with tremor. This cohort was ascertained for the presence of focal, segmental, multifocal, hemidystonia or generalized dystonia, and ET. We included 463 patients from 97 kindreds with autosomal dominant mode of inheritance (AD), defined by the vertical transmission of the disease. ET was the predominant phenotype in every ascertained family and each was phenotypically classified as AD ET. Pure ET was present in 365 individuals. Focal or segmental dystonia was
Dystonia and Parkinsons Disease (PD) are movement disorders that are closely related. First, both conditions can occur together in certain diseases. People living with PD may experience dystonia as an early symptom or as a motor complication of treatment. Dopa-Responsive Dystonia and Rapid-Onset-Dystonia-Parkinsonism are hereditary forms of dystonia in which PD is often also present. Other neurodegenerative disorders, such as Wilsons disease, may have both dystonia and PD, in conjunction to other clinical features. Second, dystonia and PD share common treatments.
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Patients with focal dystonia experience uncontrollable movements of the hand during certain types of skilled movements. Though the origin of the disorder is not fully understood, it is thought that brain areas involved in moving the hands and receiving touch information from the hands, are involved. For example, patients with dystonia affecting the hand show changes in their ability to perceive touch - this is something that typically escapes the patients own awareness. Further, the area of the brain receiving touch information has a disrupted representation of the finger skin surfaces.. The goal of our research is to improve dystonia symptoms in patients with hand dystonia. We will attempt to achieve this goal by implementing an intensive training treatment that requires patients to attend to, and use touch information applied to specific fingertips. Previous work has attempted to alter touch perception using sensory training and improvements in motor control (hand writing) of dystonia patients ...
Drug induced movement disorders have been described with an increasing frequency since the introduction of chlorpromazine (thorazine) in 1952.1 This and other dopamine receptor blocking drugs, also referred to as neuroleptic drugs, can cause a wide variety of movement disorders.1 20-22 In 1982, Burkeet al,2 comprehensively characterised tardive dystonia as a variant of tardive dyskinesia in 42 patients exposed to neuroleptic drugs. Since then, tardive dystonia has been widely recognised as a separate entity from tardive dyskinesia, and both can manifest at the same time.1-4 7 10 Studies on tardive dystonia have focused on the prevalence of the anatomical areas involved, and its clinical progression.2 3 7 The craniocervical region has been demonstrated as the most common region initially affected in patients with tardive dystonia.1-4 7 As it is relatively common for patients and their family members to be unaware of an exposure to neuroleptic drugs, the presence of suggestive clinical signs that ...
This study will use transcranial magnetic stimulation to examine how the brain controls muscle movement in focal and generalized types of dystonia. Dystonia is a movement disorder in which involuntary muscle contractions cause uncontrolled twisting or abnormal postures. Dystonia may be focal, involving just one region of the body, such as the hand, neck or face. Focal dystonia usually begins in adulthood. Generalized dystonia, on the other hand, generally begins in childhood or adolescence. Symptoms begin in one area and then become more widespread.. Healthy normal volunteers and patients with focal or generalized dystonia 8 years of age and older may be eligible for this study. First-degree relatives of patients will also be enrolled.. In transcranial magnetic stimulation, an insulated wire coil is placed on the subjects scalp and brief electrical currents are passed through the coil, creating magnetic pulses that pass into the brain. These pulses generate very small electrical currents in the ...
Dystonia is a movement disorder characterized by involuntary sustained muscle contractions causing twisting and repetitive movements or abnormal postures. Some cases of primary and neurodegenerative dystonia have been associated with mutations in individual genes critical to the G1-S checkpoint pathway (THAP1, ATM, CIZ1 and TAF1). Secondary dystonia is also a relatively common clinical sign in many neurogenetic disorders. However, the contribution of structural variation in the genome to the etiopathogenesis of dystonia remains largely unexplored. Cytogenetic analyses with the Affymetrix Genome-Wide Human SNP Array 6.0 identified a chromosome 13q34 duplication in a 36 year-old female with global developmental delay, facial dysmorphism, tall stature, breast cancer and dystonia, and her neurologically-normal father. Dystonia improved with bilateral globus pallidus interna (GPi) deep brain stimulation (DBS). Genomic breakpoint analysis, quantitative PCR (qPCR) and leukocyte gene expression were used to
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IMPORTANCE Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Gαolf) is important for dopamine D1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, including 318 patients with dystonia (190 with cervical dystonia), 51 with hyposmia and Parkinson disease, and 92 with tardive dyskinesia or acute dystonic reactions.
TY - JOUR. T1 - Poststreptococcal dystonia with bilateral striatal enlargement. T2 - MR imaging and spectroscopic findings. AU - Karagulle Kendi, A. Tuba. AU - Krenzel, C.. AU - Ott, F. W.. AU - Brace, J. R.. AU - Norberg, S. K.. AU - Kieffer, S. A.. PY - 2008/8/1. Y1 - 2008/8/1. N2 - Isolated bilateral striatal necrosis is an abnormality of the basal ganglia associated with acute dystonia in children. This report describes the development of dystonic movements in a 7-year-old male patient 2 weeks after streptococcal pharyngitis.. AB - Isolated bilateral striatal necrosis is an abnormality of the basal ganglia associated with acute dystonia in children. This report describes the development of dystonic movements in a 7-year-old male patient 2 weeks after streptococcal pharyngitis.. UR - http://www.scopus.com/inward/record.url?scp=49749144429&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=49749144429&partnerID=8YFLogxK. U2 - 10.3174/ajnr.A1065. DO - ...
I am available for speaking engagements for dystonia and blepharospasm groups, associations or professionals. I wanted to bring this to your attention in case you or someone you might know is involved with a group that would like a dystonia speaker who has had significant success helping dystonia and blepharospasm sufferers. I was given the Dystonia Courage Award by the Dystonia Medical Research Foundation and helped make possible a medical study on blepharospasm at Johns Hopkins Medical Center. In addition I have helped hundreds of dystonia sufferers improve their quality of life. To request me as a speaker, please visit this page. ...
AIM: To identify and systematically review the psychometric properties and clinical utility of dystonia and choreoathetosis scales reported for children with cerebral palsy (CP). METHOD: Six electronic databases were searched for dystonia and choreoathetosis scales with original psychometric data for children with CP aged 0 to 18 years. RESULTS: Thirty-four papers met the inclusion criteria, which contained six scales purported to measure dystonia and/or choreoathetosis in children with CP: the Burke-Fahn-Marsden Dystonia Rating Scale; Barry-Albright Dystonia Scale; Unified Dystonia Rating Scale; Movement Disorder-Childhood Rating Scale; Movement Disorder-Childhood Rating Scale 0-3 Years; and the Dyskinesia Impairment Scale ...
Aired: July 13, 2016 Marco is one of the few people who suffer from a rare genetic form of dystonia or movement disorder called X-linked Dystonia-Parkinsonism, which can only be found in ...
Dystonia is a movement disorder in which your muscles contract involuntarily, causing repetitive or twisting movements. This dystonia can affect one muscle, a muscle group or even your entire body. When your masticatory, lower facial and the tongue muscles are affected, it is oromandibular dystonia.. Symptoms:. Dystonia of the neck muscles, larynx, and eyelids are often related to oromandibular dystonia. Symptoms sometimes only occur when you perform specific actions, such as chewing or speaking. In addition, some people may have difficulty in swallowing and chewing.. Causes:. Oromandibular dystonia can be divided into primary one and secondary one. Primary oromandibular dystonia occurs with or without a family history of the disorder, while the secondary one occurs because of secondary causes, such as certain disorders or exposure to drugs.. Diagnosis:. After asking patients about his or her medical information, doctors may perform the following tests to help diagnose this condition:. ...
Opposing muscles often contract simultaneously as if they are competing for control of a body part. These involuntary muscle contractions force the body into repetitive, twisting movements and awkward, irregular postures. There are approximately 13 forms of dystonia, and dozens of diseases and conditions include dystonia as a major symptom. With the recent mapping of genes for idiopathic torsion dystonia and identification of a gene (DYT1) for early-onset dystonia, the description primary or idiopathic dystonia has evolved. However, continuing to use primary torsion dystonia to classify a group of dystonias as a clinical group of movement disorders is justifiable because dystonia is the primary abnormality attributable to this condition. The following case illustrates chiropractic presentation of a primary dystonia: ICD-9 333.79 (an acquired dystonia).. Case History. A wheelchair-bound, mid-30s female presented to my office on medical referral. Her record indicated she had suffered an MMR ...
February 3, 2009 /Press Release/ -- Mount Sinai researchers have identified mutations in gene THAP1 as a cause for primary torsion dystonia. This is the second gene identified for this type of dystonia. The study was published online on February 1st in Nature Genetics. Mount Sinai worked with Beth Israel Medical Center on this research, which was partly funded by The Bachmann-Strauss Dystonia & Parkinson Foundation, the Dystonia Medical Research Foundation and the National Institute of Neurological Disorders and Stroke (NINDS).. Dystonia is a movement disorder that causes muscles to contract and spasm involuntarily and is characterized by twisting movement and abnormal postures. According to The Bachmann-Strauss Dystonia & Parkinson Foundation, dystonia affects an estimated 500,000 people in North America. At least 15 different types of dystonia are considered to be genetic.. Researchers discovered a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion ...
Cervical Dystonia. Cervical dystonia is also called torticollis as it affects the muscles in the neck. The muscles in the neck control the movement of the head. Individuals with this disorder are only able to move their heads on one side and have difficulty moving it backwards or forwards. It can affect a person at any age although it is often associated with birth injuries.. Blepharospasm Blepharospasm is the second most common type of focal dystonia. In this type of dystonia, there is an uncontrollable contraction of the muscles that cause the eye to blink. This can lead to increased blinking in both the eyes. This type of dystonia disorder can also lead to spasms in eye which may result in functional blindness even though the eye itself is healthy.. Cranio-facial Dystonia. This type of focal dystonia occurs when the muscles of the head, face and neck are affected. When muscles of the jaw, lip and tongue are affected, it can cause problems in swallowing and speech and there can be difficulty ...
Dystonia is a neurological movement disorder. Those who suffer from this disorder experience uncontrollable muscle contractions throughout the entire body or in one specific muscle or muscle group. Dystonia generally affects more women than men, and can cause mild to severe symptoms, including: Cramping of the feet or legs Uncontrollable blinking Difficulty speaking Involuntary movements Applying for Social Security Disability When Suffering from Dystonia Some individuals that have dystonia may easily be able to continue working; therefore, it is not specifically listed in the Social Security Disability blue book. However, others who have dystonia experience severe symptoms that make it impossible to maintain employment. To qualify for Social Security Disability, applicants must prove that their symptoms keep them from working. Qualifying for Social Security Disability Benefits with Dystonia If you suffer from many of the following severe symptoms because of your dystonia, you may be able to receive
Myoclonus is a movement dystonia characterised by sudden, brief, shock-like movements. Individuals with myoclonus dystonia exhibit symptoms of dystonia plus very prominent myoclonic movements. The distribution of these rapid jerks is variable but most frequently affects the central part of the body, including the shoulders, arms, neck, and trunk. Rarely are the face and legs affected. (The symptom distribution of myoclonus dystonia is different from typical early onset generalised dystonia as it more often affects the upper body whereas typical early-onset dystonia usually affects the legs). Symptoms may be impacted by the consumption of alcohol. Non-movement related features may be present including depression, anxiety, obsessive -compulsive disorder, personality disorders, and panic attacks. The age of onset is in the first or second decade of life, although some cases of adult-onset have been reported. Most frequently, the disorder appears to be slowly progressive for a few years after ...
It is possible to receive disability for dystonia. However, the Social Security Administration will need proof that dystonia is keeping an individual from working. They will conduct an assessment of the restrictions dystonia is placing on the individual and if these restrictions affect their ability to work. Inabilities to carry, push, walk, run, lift or speak are all considered disabling to some degree.. It will be necessary for individuals applying for social security disability benefits to disclose how dystonia influences their daily lives. For example, if they find it hard to drive, that information will be needed for the SSAs evaluation. If the muscle contractions result in severe chronic pain, that may also be considered disabling.. It is helpful to have a primary care physician write up the limitations involved with a particular case of dystonia to present to the SSA. Individuals should provide this with a copy of all medical records from the onset of the dystonia to this present. These ...
Acknowledging its growing popularity and the market growth, Market Research Future, recently published a study report - The Global Cervical Dystonia Market. Which indicates that the Market is booming and estimated to gain further prominence over the forecast period. Further MRFR asserts that the Market will demonstrate a massive growth by 2023, phenomenally superseding its previous growth records in terms of value with a whooping CAGR during the anticipated period (2017 - 2023). The Global cervical dystonia market research report is expected to grow at a CAGR of 5% during forecasted period 2017-2023.. Market Research Future published new report, titled Cervical Dystonia Market -Research Report: Global Forecast till 2023.. The study report worldwide Cervical Dystonia Market covers the market analysis for the regions - North America, Europe, Asia Pacific/ Southeast Asia and Row and country analysis of China, Japan, and India focusing on top manufacturers in world market and the market share they ...
CRITICAL POINTS ▪ The etiology of focal hand dystonia is still considered idiopathic, but there is agreement that the condition is multifactorial. ▪ Focal hand dystonia includes involuntary end-range twisting postures of the fingers and wrist due to co-contractions of agonists and antagonists. The onset of the problem may initially manifest as an abnormality in…
Dystonic Disorders; Familial Dystonia; Focal Dystonia; Pseudodystonia; Writers Cramp. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and diseases is provided.
The University of Alabama at Birmingham has received a $1 million dollar gift from the family of Mrs. Joel E. Johnson, Jr., daughter-in-law of the late Joel E. Johnson, Sr., to enhance and strengthen the dystonia research program at UAB. Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures.. The Joel E. Johnson, Sr., Research Acceleration Fund in Dystonia will support ongoing dystonia research in the Division of Movement Disorders, part of the Department of Neurology.. This gift will help UAB create a world-class research program in dystonia.. ...
TY - THES. T1 - Motor and non-motor symptoms in cervical dystonia. T2 - a serotonergic perspective. AU - Smit, Marenka. PY - 2017. Y1 - 2017. N2 - In this thesis, we detected a high frequency of non motor symptoms (NMS) in patients with cervical dystonia (CD) , with a high impact on quality of life (HR-QoL). Psychiatric co-morbidity and fatigue are most likely primary symptoms and part of the phenotype of CD, while excessive daytime sleepiness and impaired sleep quality were highly related to psychiatric co-morbidity and pain. To improve the recognition and treatment of NMS, we proposed and explored a NMS questionnaire as a first step towards a dystonia specific NMS questionnaire. Future studies are warranted to explore the effect of NMS treatment on HR-QoL. Secondly, we explored the role of serotonin in the pathophysiology of dystonia, using PET imaging. It appeared that serotonergic perturbations in the raphe nuclei and in basal ganglia output regions are related to both motor- and NMS in CD. ...
TY - JOUR. T1 - Psychiatric co-morbidity is highly prevalent in idiopathic cervical dystonia and significantly influences health-related quality of life. T2 - Results of a controlled study. AU - Smit, M.. AU - Kuiper, A.. AU - Han, V.. AU - Jiawan, V. C. R.. AU - Douma, G.. AU - van Harten, B.. AU - Oen, J. M. T. H.. AU - Pouwels, M. E.. AU - Dieks, H. J. G.. AU - Bartels, A. L.. AU - Tijssen, M. A.. N1 - Copyright © 2016 Elsevier Ltd. All rights reserved.. PY - 2016/9. Y1 - 2016/9. N2 - Introduction: The aim of this study was to systematically investigate the prevalence of psychiatric disorders and factors influencing health-related quality of life (HR-QoL) in cervical dystonia (CD) patients, in the context of objective dystonia motor severity.Methods: We studied 50 CD patients and 50 matched healthy controls. Psychiatric assessment included the MINI PLUS interview and quantitative questionnaires. Dystonia motor severity (based on video evaluation), pain and disability were determined with the ...
Not every treatment option for cervical dystonia is successful for all affected individuals. Therefore, no single strategy is appropriate for every case. Most therapies are symptomatic and are intended to relieve spasms, pain and disturbed postures or functions. Identifying the treatment regimen that is most effective in individual cases may require patience and perseverance on the part of the patient and physician.. There are essentially three treatment options: botulinum toxin injections, oral medications, and, in some cases, surgery. These treatments may be used alone or in combination. In addition, physical therapy may provide a helpful complement to medical treatment. In some cases, if there is a trick such as touching the chin, a soft cervical collar may be beneficial.. Botulinum toxin injections are the treatment of choice for focal dystonia, which is the neck and head in cervical dystonia. Botulinum toxin is a neurotoxin that is injected into the dystonic neck muscles in small doses. ...
TY - JOUR. T1 - Determinants of disability in cervical dystonia. AU - van den Dool, J.. AU - Tijssen, M.A.J.. AU - Koelman, J.H.T.M.. AU - Engelbert, R.H.H.. AU - Visser, B.. N1 - Copyright © 2016 Elsevier Ltd. All rights reserved.. PY - 2016. Y1 - 2016. N2 - BACKGROUND: Cervical dystonia (CD) is characterized by involuntary muscle contractions causing abnormal postures and/or twisting movements of the head and neck. These motor symptoms can have a major impact on disability. Treatment with botulinum toxin injections aims to reduce motor symptoms, and therefore disability. Despite motor improvements, many patients still experience difficulties with performing daily life activities. To optimize treatment, other factors that determine disability should be identified.OBJECTIVE: To explore and identify clinical characteristics that relate to disability in CD.METHODS: Data on disability, severity of dystonia, anxiety, depression, pain and quality of life of 96 CD patients was analyzed with a ...
Objective: To evaluate the long-term effectiveness of sensory motor retuning (SMR), a new treatment for focal hand dystonia in musicians.,br /,Design: Prospective case series with an (adventitious) comparison group with 3- to 25-month follow-up in piano and guitar and 0- to 4-month follow-up in flute and oboe players.,br /,Setting: General community in Germany.,br /,Participants: Eleven professional musicians.,br /,Intervention: Immobilization by splints of 1 or more digits other than the focal dystonic finger. This finger carried out repetitive exercises in coordination with 1 or more of the other digits for 1.5 to 2.5 hours a day for 8 consecutive days under therapist supervision. The subjects then were instructed to continue practice for 1 hour daily for 1 year.,br /,Main Outcome Measures: Spectral analysis of the output of a dexterity-displacement device that continuously recorded digital displacement during finger movements and a dystonia evaluation scale on which patients rated how well ...
TY - JOUR. T1 - Long-Term Abobotulinumtoxin A Treatment of Cervical Dystonia. AU - Bentivoglio, Anna Rita. AU - Di Stasio, Enrico. AU - Mulas, Delia. AU - Ialongo, Tamara. AU - Petracca, Martina. PY - 2017. Y1 - 2017. N2 - Botulinum toxin is considered as first-line therapy for cervical dystonia, but few papers have addressed these issues in the long term. Aim of this study was to investigate the long-term efficacy and safety of abobotulinumtoxin A (A/Abo) in patients with primary cervical dystonia. Consecutive patients who received at least six injections with A/Abo were included. Safety was assessed on patients self-reports. Efficacy was assessed by recording the total duration of benefit, duration of maximum efficacy, disease severity measured by means of the Tsui score, and pain intensity evaluated by means of the visual analog scale (VAS). Thirty-nine patients with PCD were included. The mean dose injected was 701.5 ± 280.6 U. The mean duration of the clinical improvement was 93.0 ± 30.7 ...
Health,Dystonia a group of diseases that cause a patients muscles to involu...We knew from early studies that a certain type dystonia has a drama...The study also showed that the surgery is more effective if performe...Source-Eurekalert SRI ...,New,Hope,For,Dystonia,Treatment,Through,Deep,Brain,Stimulation,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
A disabling form of tardive dystonia and dyskinesia in a young schizophrenic patient is reported. Severe forms of dystonia plus dyskinesia associated with long term neuroleptic exposition are not rare. Although tomographic scans were normal, blood perfusion examination through single photon computed tomography (SPECT) showed basal ganglia hypoperfusion, indicating striatum involvement in this late neuroleptic side effect. The patient was treated with relative success by the association of high doses of propranolol, diazepan and biperiden. A critical discussion about some clinical, neurobiological and treatment issues related to severe forms of tardive dystonia is presented. The association of beta-adrenergic antagonists, gaba agonists and anticholinergic drugs are suggested as a possible alternative for the treatment of this condition ...
Laryngeal dystonia is a movement disorder of the muscles within the larynx, which most commonly manifests as spasmodic dysphonia (SD). Rarer reported manifestations include dystonic respiratory stridor (noisy breathing) and paroxysmal coughing. Laryngeal dystonia has been treated successfully with botulinum neurotoxin
Dystonia advocates develop relationships with their legislative leaders to help them understand the challenges of those living with dystonia. The DAN continuously works to adopt and advance a legislative agenda which raises awareness of dystonia, educates policymakers about dystonia, addresses patient care issues, and moves research forward.. ...
Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a leg that continue to progress throughout the rest of the body. It takes roughly 5 years for the symptoms to completely progress to a debilitating state. The disease is caused by a genetic disorder which results in a defect in a protein called Torsin A. A mutation in the DYT1 gene causes the loss of an amino acid, glutamic acid, in the Torsin A protein. The defective protein creates a disruption in communication in neurons that control muscle movement and muscle control. This mutation is most usually inherited from a parent, but can occur sporadically. The disease is caused by a dominant allele, meaning that the person affected needs only one copy ...
Cervical dystonia may be primary (meaning that it is the only apparent neurological disorder, with or without a family history) or be brought about by secondary causes such as physical trauma. In cervical dystonia, the neck muscles contract involuntarily. If the contractions are sustained, they may cause abnormal posture of the head and neck. If the spasms are periodic or patterned, they may produce jerky head movements. (1) ...
In 2012 one of the first symptoms I developed was severe Oromandibular Dystonia. This meant that my jaw, mouth and tongue go into painful, and often extreme spasms. On these occasions I struggle to speak; this can be due to several factors such as: my tongue spasming and making it impossible to talk, the…
DefinitionAccording to dictionary definition Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements, sometimes they are painful. Dystonia can affect just one muscle, a group of muscles or all of your muscles. Signs and SymptomsAccording to dictionary definition Symptoms can include:1. Tremors2. Voice problems3. Dragging footSymptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild. Causes and Risk FactorsAccording to dictionary definition Common risk factors include:1. Family history2. Certain diseases3. Problem in the part of the brain that handles signals for muscle contractions TreatmentAccording to dictionary definition Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. NIH: National Institute of Neurological Disorders and Stroke. ...
Global cervical dystonia Market categorizes the Global Market by Type, Treatment and end-user, cervical dystonia Industry ... cervical dystonia market is growing at a CAGR of 5 % during forecasted period 2017-2023, ... Figure 1- Global cervical dystonia market share, by region. Market Scenario:. Cervical dystonia is a rare disease also known as ... 7. GLOBAL CERVICAL DYSTONIA MARKET, BY END USER. 7.1 HOSPITAL. 7.2 CLINICS 7.3 OTHER. 8. GLOBAL CERVICAL DYSTONIA MARKET, BY ...
Focal dystonia is a neurological condition, a type of dystonia, that affects a muscle or group of muscles in a specific part of ... In musicians, the condition is called musicians focal dystonia, or simply, musicians dystonia. In sports, it may be involved ... Understanding musicians Focal dystonia". Galene Editions 2004.. *. Leisner, David (2007). "Curing Focal Dystonia or How to ... Dystonia. The Canadian Movement Disorder group. http://cmdg.org/Dystonia/dystonia.htm ...
Dystonia is a movement disorder. It causes involuntary, often painful, contractions of your muscles. Learn about causes, ... Dystonia: Emotional and Mental Health (Dystonia Medical Research Foundation) * Dystonia: Physical Therapy (Dystonia Medical ... Dystonias (National Institute of Neurological Disorders and Stroke) - Short Summary * Dystonias (National Institute of ... Dystonia 6: MedlinePlus Genetics (National Library of Medicine) * Early-onset primary dystonia: MedlinePlus Genetics (National ...
... is a neurological movement disorder, which is characterised by spasms and sustained contractions of the muscles. Find ... Focal dystonias. Neck dystonia or cervical dystonia. Neck dystonia or sometimes known as spasmodic torticollis, is the ... Generalised dystonia is more severe and can affect the entire body.. Primary dystonia refers to the situation where dystonia is ... Voice dystonia or laryngeal dystonia. Voice dystonia or sometimes called spasmodic dysphonia is a voice disorder caused by ...
Focal dystonia, or the yips, is a neurologic disorder featuring involuntary movements or spasms of small muscles. It can ... www.dystonia.org.uk/index.php/about-dystonia/types-of-dystonia/focal-hand-dystonia/musicians-dystonia-musicians-cramp. ... www.dystonia.org.uk/index.php/about-dystonia/types-of-dystonia/focal-hand-dystonia/musicians-dystonia-musicians-cramp ... The Dystonia Society. (2011). Causes of dystonia. Retrieved from The Dystonia Society. (2012, January). Musicians dystonia. ...
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting ( ... Dystonias are estimated to affect 250,000 people in the United States. Dystonia 16 is a rare form of dystonia; its prevalence ... Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting ( ... laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, ...
Dystonia is characterized by involuntary movements and extended muscle contractions. Here, learn about the symptoms and the ... Dystonia refers to a range of movement disorders that affect the brain and nerves, but not cognitive abilities such as memory. ... Some types of dystonia are linked to faulty genes.. Causes of secondary dystonia. This type of dystonia is caused by a ... Drug induced dystonia. Certain drugs can cause dystonia. Cases of drug-induced dystonia normally occur after just one exposure ...
I would appreciate anything you could tell me about dystonia and its treatment. - M.S. Dear M.S.: Dystonia - an involuntary ... Donohue: My wife was diagnosed as having dystonia. ... Dear M.S.: Dystonia - an involuntary contraction of one or more ... With localized dystonia, injections of Botox often works.. Have your wife call the Dystonia Medical Research Foundation at 800- ... Donohue: My wife was diagnosed as having dystonia. I would appreciate anything you could tell me about dystonia and its ...
Unawareness of dystonia.. BMJ 1992; 305 doi: https://doi.org/10.1136/bmj.305.6849.368-a (Published 08 August 1992) Cite this as ...
While Hermann Oppenheim probably described the first cases of genetic (DYT1) dystonia in 1911, the modern history of dystonia ... Confirmed genes for isolated dystonias include TOR1A/DYT1; THAP1/DYT6; GNAL/DYT25. In the combined forms, dystonia is ... Genetics in dystonia.. Klein C1.. Author information. 1. Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. ... Due to the advent of next-generation sequencing, the field of dystonia genetics has been evolving very rapidly over the past ...
Segmental dystonia: , spastic dysphonia); segmental, involving two adjacent muscle groups, such as the neck muscles (e.g., ... classification of dystonias. * In dystonia. , spastic dysphonia); segmental, involving two adjacent muscle groups, such as the ...
Dystonia is thought to be neurological in origin, but the condition does not affect peoples intelligence, memory or language ... Dystonias are disorders characterized by muscle spasms and contractions. ... If the dystonia is genetic or the cause is unknown, it is termed primary dystonia, while dystonia that occurs due to an ... Secondary dystonia. Also known as acquired dystonia, secondary dystonias are usually caused by another condition, some of which ...
A movement disorder in which a persons muscles contract uncontrollably. It can affect one muscle or group or the entire body. Abbott can help restore control.
Learn about different classifications of dystonia, as well as common symptoms and treatment options. Get a complete overview of ... Dystonia Classification by Body Part. Focal Dystonia. Focal dystonia is limited to one area of the body and can affect the neck ... Dystonia-plus syndromes include dopa-responsive dystonia (DRD) or Segawa syndrome, rapid-onset dystonia-parkinsonism (RDP) and ... laryngeal dystonia) or arms/legs (limb dystonia). Other less common types of focal dystonias can cause unusual stretching, ...
... hand dystonia, blepharospasm, oromandibular dystonia, dysphonia and musicians dystonia. Some focal dystonias have been proven ... There are multiple types of dystonia, and many diseases and conditions may cause dystonia. Dystonia is classified by: Clinical ... Primary dystonia is suspected when the dystonia is the only sign and there is no identifiable cause or structural abnormality ... Cerebellum issues causing dystonia is described by Filip et al. 2013: "Although dystonia has traditionally been regarded as a ...
Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or ... dystonia). The myoclonic jerks typical of M-D most often affect the neck, trunk, and upper limbs with less common involvement ... Myoclonus-dystonia (M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus) ... Dystonia 11; DYSTONIA 11, MYOCLONIC; Dystonia, alcohol responsive; DYT11; Hereditary essential myoclonus; Myoclonus-Dystonia; ...
Rush movement disorder experts tailor dystonia treatments (e.g., botulinum toxin injections or deep brain stimulation) to ... Types of Dystonia. Dystonia can affect only a specific group of muscles or many groups. Dystonia is classified by the group of ... Ongoing dystonia research and expertise: The Dystonia Study Group, a national group of dystonia experts, is led by movement ... Dystonia Symptoms. Early signs of dystonia can be subtle and include the following:. *Trembling of limbs, hands and face ( ...
There are two main categories of dystonia: primary and secondary.. In primary dystonia, dystonia is the only clinical feature. ... Dystonia. Dystonia can be a symptom of Parkinsons and some other diseases and is a movement disorder on its own. Painful, ... Types of Dystonia. Dystonia is the third most common movement disorder, affecting an estimated 500,000 adults and children in ... In secondary dystonia, other symptoms are also present. Some other forms of dystonia also have parkinsonism, a term used to ...
Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or ... abnormal postures.Dystonia fact sheet: National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ ...
I had hoped that after my DBS surgery seven months ago that I would no longer suffer from the pain brought on by dystonia in my ... I had hoped that after my DBS surgery seven months ago that I would no longer suffer from the pain brought on by dystonia in my ... But he does have Dystonia in his feet. When the problem first started in 2005 we went through 3 months of pure hell. It was ... I would like to hear your stories, either positive or negatative, as it relates to treating feet dystonia with Botox injections ...
Helping you find trustworthy answers on Dystonia , Latest evidence made easy ... Find all the evidence you need on Dystonia via the Trip Database. ... Unmet Needs in Dystonia: Genetics and Molecular Biologyâ€"How Many Dystonias? (PubMed). Unmet Needs in Dystonia: Genetics and ... 1. Dystonias Dystonias Dystonias - Symptoms, diagnosis and treatment , BMJ Best Practice Youll need a subscription to access ...
Helping you find trustworthy answers on Dystonia , Latest evidence made easy ... Find all the evidence you need on Dystonia via the Trip Database. ... X-linked dystonia-parkinsonism is a neurodegenerative movement disorder characterized by adult-onset dystonia combined with ... Youngest presenting patient with dystonia 24 and review of the literature (PubMed). Youngest presenting patient with dystonia ...
dystonia synonyms, dystonia pronunciation, dystonia translation, English dictionary definition of dystonia. n. Abnormal ... com)-- The Dystonia Medical Foundation (DMRF) is proud to cheer on Dystance4Dystonia runner Carrie Siu Butt in her fifth and ... Clozapine and botulinum toxin have proven efficacy against tardive dystonia, said Dr.. Tx options help relieve tardive dystonia ... from dys- + -tonia from Greek tonos tension, from teinen to stretch]. dys•to•ni•a. (dɪsˈtoʊ ni ə) n. a neurological disorder ...
Risk factors for acute, drug induced dystonia include young age, male sex, use of cocaine, and a history of acute dystonia ... Acute dystonia induced by drug treatment can be a side effect of treatment with antipsychotic drugs and other drugs, and it may ... Drug induced dystonia can be prevented either by adding, during the first four to seven days of treatment, anticholinergic ... Acute dystonia caused by drug treatment can seriously disturb the relationship between doctor and patient and should be ...
I was diagnosed with Focal Dystonia in my wrist a few months ago. Since then it has become multifocal, affecting both feet and ... Ambien, GABA and Dystonia. I was diagnosed with Focal Dystonia in my wrist a few months ago. Since then it has become ... I have Dystonia also and was prescribed Ambien. I feel great in the morning when I wake up. I dissapeares after an hour or so ... I have Dystonia also and was prescribed Ambien. I feel great in the morning when I wake up. I dissapeares after an hour or so ...
... also known as dopa-responsive dystonia or as hereditary progressive dystonia with diurnal variation (HPD), is an inherited ... dystonia typically presenting in the first decade of life (although it may present in the second to early third decades, or ... Dopamine-responsive dystonia (DRD), also known as dopa-responsive dystonia or as hereditary progressive dystonia with diurnal ... encoded search term (Dopamine-Responsive Dystonia) and Dopamine-Responsive Dystonia What to Read Next on Medscape ...
My wife first exhibited cervical dystonia symptoms in about 1984, although it would be another five years before a diagnosis ... Your article on cervical dystonia overlooked the very important treatment option of selective denervation. ... she shows few residual signs of cervical dystonia. Although not totally pain free, she has enjoyed life to an extent that would ...
Dystonia is a general term which describes involuntary movements and extended muscle contractions - a range of movement ... What Is Dystonia? What Causes Dystonia?. Health & Wellness (tags: dystonia, movement disorders, neurological illness, ... I have Generalized Dystonia myself & my Dystonia also affects my speech!!! I got Botox injections which does help my tremors ... Dystonia is a general term which describes involuntary movements and extended muscle contractions - a range of movement ...
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