Nocturnal Paroxysmal Dystonia
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)
Dystonia
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)
Entopeduncular Nucleus
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.
Dystonic Disorders
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.
Dystonia Musculorum Deformans
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)
Botulinum-A toxin in the treatment of painful post-stroke nocturnal paroxysmal dystonia triggered by periodic limb movements of sleep: case report. (1/1)
INTRODUCTION: Sleep disorders presenting involuntary movements may be very annoying to patients, apart from their negative influence on sleep. OBJECTIVE: To report the use of botulinum type-A toxin (BoNT-A) to manage the case of a patient whose sleep was severely disrupted by episodes of dystonic posturing of the right lower limb triggered by periodic limb movements of sleep (PLMS). METHOD: A 79-year-old woman with mild post-stroke right hemiparesis presented with recurrent painful episodes of dystonia of the right lower limb, which disrupted her sleep. The dystonic episodes could also be voluntarily triggered by extension of the right hallux. Polysomnography confirmed that the dystonic episodes were triggered by PLMS. Twenty units of BoNT-A (20U/500U vial) were injected into her right extensor hallucis longus. RESULTS: Shortly after BoNT-A was injected, the dystonic symptoms abated, and the patient achieved better sleep efficiency. CONCLUSION: The PLMS-related involuntary extension of the hallux was probably triggering the nocturnal post-stroke lower limb dystonic paroxysms. BoNT-A injection into the right extensor hallucis longus was effective in managing this condition and thus resolved the associated disruption of sleep. (+info)Nocturnal Paroxysmal Dystonia is a rare neurological disorder characterized by recurrent episodes of involuntary movements, muscle spasms and posturing during sleep or early morning hours, often misdiagnosed as epilepsy in children and typically manifesting before the age of 15.
Nocturnal Paroxysmal Dystonia is actually an outdated term that was previously used to describe a rare neurological disorder characterized by recurrent episodes of dystonia (sustained muscle contractions that cause twisting and repetitive movements or abnormal postures) occurring predominantly during sleep. These episodes are often associated with other symptoms such as autonomic dysfunction (e.g., sweating, tachycardia), vegetative symptoms (e.g., flushing, pallor), and sometimes pain.
Currently, this disorder is more commonly referred to as "Paroxysmal Dyskinesias" or "Nocturnal Paroxysmal Kinesigenic Dyskinesia" if the episodes are triggered by sudden movements or "Nocturnal Paroxysmal Non-Kinesigenic Dyskinesia" if they occur spontaneously, without any apparent trigger. These disorders can be caused by various genetic mutations and may respond to different treatment approaches.
Dystonia is a neurological movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.
Dystonia is a neurological movement disorder characterized by involuntary muscle contractions, leading to repetitive or twisting movements. These movements can be painful and may affect one part of the body (focal dystonia) or multiple parts (generalized dystonia). The exact cause of dystonia varies, with some cases being inherited and others resulting from damage to the brain. Treatment options include medications, botulinum toxin injections, and deep brain stimulation surgery.
The entopeduncular nucleus is a compact collection of neurons located in the ventral region of the diencephalon, primarily within the posterior intralaminar complex of the thalamus, serving as a crucial component of the motor control circuitry and exhibiting significant involvement in Parkinson's disease pathophysiology.
The entopeduncular nucleus (EP) is a small, compact collection of neurons located in the ventral region of the diencephalon, specifically within the posterior intralaminar complex of the thalamus. It is present in various mammals, including humans. The EP nucleus receives inputs from the basal ganglia and projects to the brainstem and other thalamic nuclei.
In rodents, the entopeduncular nucleus is also known as the globus pallidus internus (GPi). However, in primates, including humans, the GPi is a separate structure located near the EP nucleus. Both structures are part of the basal ganglia circuitry and play essential roles in motor control, procedural learning, and habit formation.
The entopeduncular nucleus has been implicated in several neurological conditions, such as Parkinson's disease, Huntington's disease, and dystonia. Deep brain stimulation (DBS) of the EP nucleus or GPi is an effective treatment for reducing motor symptoms associated with these disorders.
Dystonic Disorders are neurological conditions characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.
Dystonic disorders are a group of neurological conditions characterized by sustained or intermittent muscle contractions that result in involuntary, repetitive, and often twisting movements and abnormal postures. These movements can affect any part of the body, including the face, neck, limbs, and trunk. Dystonic disorders can be primary, meaning they are caused by genetic mutations or idiopathic causes, or secondary, resulting from brain injury, infection, or other underlying medical conditions.
The most common form of dystonia is cervical dystonia (spasmodic torticollis), which affects the muscles of the neck and results in abnormal head positioning. Other forms of dystonia include blepharospasm (involuntary eyelid spasms), oromandibular dystonia (affecting the muscles of the jaw, face, and tongue), and generalized dystonia (affecting multiple parts of the body).
Dystonic disorders can significantly impact a person's quality of life, causing pain, discomfort, and social isolation. Treatment options include oral medications, botulinum toxin injections, and deep brain stimulation surgery in severe cases.
Dystonia Musculorum Deformans, also known as Torticollis Spasmodica or simply Dystonia, is a neurological disorder characterized by sustained or intermittent muscle contractions that cause twisting and repetitive movements or abnormal postures.
'Dystonia Musculorum Deformans' is a medical term that refers to a rare inherited neurological disorder, which is now more commonly known as "Generalized Dystonia." This condition is characterized by sustained muscle contractions, leading to twisting and repetitive movements or abnormal postures.
The onset of symptoms typically occurs during childhood or adolescence, and they can progress over time, affecting various parts of the body. The exact cause of Generalized Dystonia is not fully understood, but it is believed to involve genetic mutations that affect the functioning of certain proteins in the brain. Treatment options may include medications, botulinum toxin injections, or even deep brain stimulation surgery in severe cases.
List of OMIM disorder codes
LRRK2 Parkinsonism-dystonia, infantile; 613135; SLC6A3 Paroxysmal extreme pain disorder; 167400; SCN9A Paroxysmal nocturnal ... GCH1 Dystonia, juvenile-onset; 607371; ACTB Dystonia, myoclonic; 159900; DRD2 Dystonia-1, torsion; 128100; DYT1 Dystonia-11, ... HSPG2 Dystonia 16; 612067; PRKRA Dystonia 6, torsion; 602629; THAP1 Dystonia, dopa-responsive, due to sepiapterin reductase ... nocturnal frontal lobe, 1; 600513; CHRNA4 Epilepsy, nocturnal frontal lobe, 3; 605375; CHRNB2 Epilepsy, nocturnal frontal lobe ...
Frontal lobe epilepsy
Paroxysmal nocturnal dystonia or hypnogenic paroxysmal dystonia are other names given to describe FLE symptoms but are simply ... familial paroxysmal dystonic choreoathetosis, paroxysmal kinesogenic choreoathetosis, or episodic ataxia type 1. Hypermotor ... Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is the best understood form of frontal lobe epilepsy but is often ...
List of MeSH codes (C10)
... nocturnal myoclonus syndrome MeSH C10.886.659.627 - nocturnal paroxysmal dystonia MeSH C10.886.659.633 - rem sleep parasomnias ... nocturnal myoclonus syndrome MeSH C10.886.425.800.700 - restless legs syndrome MeSH C10.886.425.800.750 - sleep apnea syndromes ... dystonia musculorum deformans MeSH C10.228.662.300.500 - meige syndrome MeSH C10.228.662.300.750 - torticollis MeSH C10.228. ... dystonia MeSH C10.597.350.300.800 - torticollis MeSH C10.597.350.350 - hyperkinesis MeSH C10.597.350.400 - hypokinesia MeSH ...
List of MeSH codes (F03)
... nocturnal paroxysmal dystonia MeSH F03.870.664.633 - rem sleep parasomnias MeSH F03.870.664.633.700 - rem sleep behavior ...
Classification of sleep disorders
G47.811 Sleep related enuresis G47.812 Non-REM-sleep related abnormal swallowing syndrome G47.813 Nocturnal paroxysmal dystonia ... Lehermitte called it paroxysmal hypersomnia in 1930 to differentiate it from prolonged hypersomnia. Roger in 1932 coined the ... nocturnal leg cramps (R25.20) G47.830 Sleep related rhythmic movement disorder, head-banging (jactatio capitis noctunus) ... unspecified 7B60.1 Nocturnal enuresis 8A70 Disorders of the sleep-wake schedule 8A71 Parasomnia 8A72 Sleeptalking 8A7Y Other ...
Sleep-related hypermotor epilepsy
Lugaresi, E.; Cirignotta, F. (1981). "Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?". Sleep. 4 (2): 129- ... People who have nocturnal seizures may notice unusual conditions upon awakening in the morning, such as a headache, having wet ... The term "nocturnal frontal lobe epilepsy" was suggested as a name for this condition. Later in 2014, a consensus conference ... Sleep-related hypermotor epilepsy (SHE), previously known as nocturnal frontal lobe epilepsy, is a form of focal epilepsy ...
List of OMIM disorder codes - Wikipedia
LRRK2 Parkinsonism-dystonia, infantile; 613135; SLC6A3 Paroxysmal extreme pain disorder; 167400; SCN9A Paroxysmal nocturnal ... GCH1 Dystonia, juvenile-onset; 607371; ACTB Dystonia, myoclonic; 159900; DRD2 Dystonia-1, torsion; 128100; DYT1 Dystonia-11, ... HSPG2 Dystonia 16; 612067; PRKRA Dystonia 6, torsion; 602629; THAP1 Dystonia, dopa-responsive, due to sepiapterin reductase ... nocturnal frontal lobe, 1; 600513; CHRNA4 Epilepsy, nocturnal frontal lobe, 3; 605375; CHRNB2 Epilepsy, nocturnal frontal lobe ...
Sleepwalking: Practice Essentials, Background, Pathophysiology
NES is characterized by consumption of excessive amounts of food either before bed or during nocturnal awakenings. It is up to ... Whether NES should be differentiated from nocturnal eating syndrome is not clear in the literature. However, the terms may be ... Ohayon MM, Mahowald MW, Dauvilliers Y, Krystal AD, Léger D. Prevalence and comorbidity of nocturnal wandering in the US adult ... Nocturnal eating syndrome may be defined as eating at night after having gone to bed ...
Neuropsychiatric Dimensions of Movement Disorders in Sleep
When patients complain of sleep disturbance, psychiatrists should consider,and question for, features of nocturnal movement ... Nocturnal paroxysmal dystonia. Patients with nocturnal paroxysmal dystonia,irrespective of age or sex, have bizarremovements ... Cirignotta F, Lugaresi E, Montagn P. Nocturnalparoxysmal dystonia. In: Kryger MH, Roth T, DementWC, eds. Principles and ... When patients complain of sleep disturbance, psychiatrists should consider,and question for, features of nocturnal movement ...
Baby’s Pregnancy Calendar
Paroxysmal Nocturnal Hemoglobinuria: Practice Essentials, Pathophysiology, Etiology
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, chronic, debilitating disorder that most frequently presents in early ... PNH usually presents as hemolytic anemia, thrombosis, and smooth muscle dystonias, as well as bone marrow failure in some cases ... encoded search term (Paroxysmal Nocturnal Hemoglobinuria) and Paroxysmal Nocturnal Hemoglobinuria What to Read Next on Medscape ... Paroxysmal Nocturnal Hemoglobinuria. Updated: Jun 06, 2023 * Author: Emmanuel C Besa, MD; Chief Editor: Sara J Grethlein, MD, ...
Paroxysmal Nocturnal Hemoglobinuria | myADLM.org
Nahla Heikal discuss Paroxysmal Nocturnal Hemoglobinuria in this December 2016 Pearl of Laboratory Medicine. ... Esophageal spasm, abdominal pain, pulmonary hypertension, fatigue and smooth muscle dystonia are all attributed to nitric oxide ... Welcome to this Pearl of Laboratory Medicine on Paroxysmal Nocturnal Hemoglobinuria. Slide 2:. Paroxysmal nocturnal ... The disease is described as nocturnal, although hemolysis is subtle and constant 24 hours a day. Hemoglobinuria is part of the ...
Paroxysmal Nocturnal Hemoglobinuria: Practice Essentials, Pathophysiology, Etiology
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, chronic, debilitating disorder that most frequently presents in early ... PNH usually presents as hemolytic anemia, thrombosis, and smooth muscle dystonias, as well as bone marrow failure in some cases ... encoded search term (Paroxysmal Nocturnal Hemoglobinuria) and Paroxysmal Nocturnal Hemoglobinuria What to Read Next on Medscape ... Paroxysmal Nocturnal Hemoglobinuria. Updated: Jun 06, 2023 * Author: Emmanuel C Besa, MD; Chief Editor: Sara J Grethlein, MD, ...
MedlinePlus: Genetic Conditions: P
Parkinsonism-dystonia, infantile, see Dopamine transporter deficiency syndrome. *Paroxysmal dystonic choreoathetosis, see ... Paroxysmal kinesigenic dyskinesia, see Familial paroxysmal kinesigenic dyskinesia. *Paroxysmal nocturnal hemoglobinuria. * ... Paroxysmal kinesigenic choreoathetosis, see Familial paroxysmal kinesigenic dyskinesia. * ...
Namespace
O Paroxysmal dyspnea,O Paroxysmal dystonia,O Paroxysmal involuntary eye movements,O Paroxysmal lethargy,O Paroxysmal nocturnal ... O Nocturnal,O Nocturnal hypoventilation,O Nocturnal lagophthalmos,O Nocturnal seizures,O Nodular changes affecting the eyelids, ... O Paroxysmal atrial fibrillation,O Paroxysmal atrial tachycardia,O Paroxysmal bursts of laughter,O Paroxysmal choreoathetosis,O ... O Paroxysmal supraventricular tachycardia,O Paroxysmal tachycardia,O Paroxysmal ventricular tachycardia,O Paroxysmal vertigo,O ...
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Do both parties have to agree to arbitration? - Bridgitmendlermusic.com
Generalized Tonic-Clonic Seizures Differential Diagnoses
Sucrose Hemolysis: Reference Range, Interpretation, Collection and Panels
The Laboratory Diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH) * Ferric Carboxymaltose in Patients With Iron-Deficiency ... 3] The disease manifests with complement-mediated intravascular hemolysis, smooth muscle dystonia, and thrombosis. ... Paroxysmal nocturnal hemoglobinuria is a rare clonal hematopoietic stem-cell disorder (approximately 1-2 cases per 1 million ... Diagnostic specificity of sucrose hemolysis test for paroxysmal nocturnal hemoglobinuria. Blood. 1970 Apr. 35(4):462-75. [QxMD ...
Available symptoms - Infermedica for Developers
Katherine Mackenzie, MD's Profile | Stanford Profiles
... paroxysmal nocturnal or diurnal dyskinesia, chorea, myoclonus, and intermittent facial dyskinesia. Somatic mosaicism is usually ... TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. Brain : a journal of ... In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea. The progenitor, whose ... These mutations cause a mixed hyperkinetic disorder that includes dystonia, chorea, and myoclonus, often with facial ...
Restless Legs Syndrome | Profiles RNS
Alternative Treatment for SacroIliac Joint Dysfunction with Ayurveda
Female Health Archives | Page 3 of 55 | Dr. Vikram Chauhan's Blog
Hemoglobinuria4
- Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic stem cell (HSC) disease. (medscape.com)
- This series of containers holds urine of a patient with paroxysmal nocturnal hemoglobinuria, showing the episodic nature of the dark urine (hemoglobinuria) during intravascular hemolysis, usually occurring at night. (medscape.com)
- Paroxysmal nocturnal hemoglobinuria or PNH is a rare benign clonal acquired hematopoietic stem-cell (HSC) disorder that results from somatic mutation of the X- linked phosphatidylinositol glycan class A gene known as the PIGA gene. (aacc.org)
- Note that the percentage of hemolysis on sucrose hemolysis test can vary based on the temperature at which the test is performed, the type of blood used (defibrinated or whole blood), and recent multiple blood transfusions that can dilute the percentage of paroxysmal nocturnal hemoglobinuria (PNH) cells. (medscape.com)
Limb1
- 2020). Growing pains (benign idiopathic paroxysmal nocturnal limb pains): underlying cause and pathogenesis are not known, but contributing factors may include1excessive physical activity (DynaMed, 2018). (studymonk.org)
Hemolysis4
- The term "nocturnal" refers to the belief that hemolysis is triggered by acidosis during sleep and activates complement to hemolyze an unprotected and abnormal RBC membrane. (medscape.com)
- Hemolysis has been shown to occur throughout the day and is not actually paroxysmal, but the concentration of urine overnight produces the dramatic change in color. (medscape.com)
- Although the disease is called paroxysmal, there is ongoing destructive progressive hemolysis even in the absence of symptoms. (aacc.org)
- The disease is described as nocturnal, although hemolysis is subtle and constant 24 hours a day. (aacc.org)
Syndrome2
- Restless legs syndrome (RLS) is a neurologic disorder characterized by the irresistible urge to move the legs, usually worsening at rest, relieved with movement, and occurring in the evening or at night.The pathogenesis generally unknown, but hypotheses include: hypodopaminergic hypothesis based on relief of symptoms with dopaminergic treatment exacerbation or unmasking of symptoms with dopamine antagonists circadian pattern of RLS symptoms mimics circadian pattern of dopa-responsive dystonia. (studymonk.org)
- Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (lookformedical.com)
Epilepsy3
- TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. (stanford.edu)
- Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). (stanford.edu)
- Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (lookformedical.com)
Cervical2
- Cervical dystonia. (oklahoma.gov)
- Dystonia was observed in 10 patients and the remaining two patients had head tremor, a 'forme-fruste' of cervical dystonia. (plexa.ai)
Recurrent1
- A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. (lookformedical.com)
Smooth muscle2
- PNH usually presents as hemolytic anemia, thrombosis, and smooth muscle dystonias, as well as bone marrow failure in some cases. (medscape.com)
- Esophageal spasm, abdominal pain, pulmonary hypertension, fatigue and smooth muscle dystonia are all attributed to nitric oxide (NO) scavenging. (aacc.org)
Movement1
- When patients complain of sleep disturbance, psychiatrists should consider,and question for, features of nocturnal movement disorder. (psychiatrictimes.com)
Frontal lobe4
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. (nih.gov)
- When Do Symptoms of Autosomal dominant nocturnal frontal lobe epilepsy Begin? (nih.gov)
- Nocturnal frontal lobe epilepsy (NFLE) has been delineated as a distinct syndrome in the heterogeneous group of paroxysmal sleep-related disturbances. (nih.gov)
- Most evidence suggests that nocturnal paroxysmal dystonia of short duration represents nocturnal seizures of frontal lobe origin. (health.am)
Seizures1
- Age at onset of the nocturnal seizures varies, but centres during infancy and adolescence. (nih.gov)
Dystonic1
- A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. (bvsalud.org)
19251
- In 1925, the term paroxysmal nocturnal hemaglobinuria was coined. (wikidoc.org)
Enuresis1
- Symptomatic enuresis is secondary to underlying medical disease - for example, urogenital disorder or nocturnal seizure. (health.am)
Choreoathetosis1
- Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. (nih.gov)
Familial1
- A familial recurrence of the epileptic attacks is found in 25% of the cases, while 39% of the patients present a family history of nocturnal paroxysmal episodes that fit the diagnostic criteria for parasomnias. (nih.gov)
Episodes1
- Nocturnal paroxysmal dystonia is characterized by repeated dystonia or dyskinetic (ballistic, choreo-athetoid) episodes that are stereotyped and occur during NREM sleep. (health.am)
Bruxism1
- Bruxism is inhibited by the use of a nocturnal tooth guard. (health.am)
Results1
- It results in disrupted nocturnal sleep, temporomandibular joint dysfunction, damage to teeth, and morning headache. (health.am)
Disease1
- Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal haematopoietic stem cell (HSC) disease that presents with haemolytic anaemia, thrombosis and smooth muscle dystonias, as well as bone marrow failure in some cases. (qxmd.com)
Patients1
- However, brief transcranial administrations of AC pulsed EMFs in the picotesla flux density induced in these patients sexual arousal and spontaneous nocturnal erections. (maxwellmagneticmeds.co.za)
