Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)
A characteristic symptom complex.
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110)
An intracellular cystatin subtype that is found in a broad variety of cell types. It is a cytosolic enzyme inhibitor that protects the cell against the proteolytic action of lysosomal enzymes such as CATHEPSINS.
An anticonvulsant used for several types of seizures, including myotonic or atonic seizures, photosensitive epilepsy, and absence seizures, although tolerance may develop. It is seldom effective in generalized tonic-clonic or partial seizures. The mechanism of action appears to involve the enhancement of GAMMA-AMINOBUTYRIC ACID receptor responses.
An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)
A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
The electric response evoked in the CEREBRAL CORTEX by stimulation along AFFERENT PATHWAYS from PERIPHERAL NERVES to CEREBRUM.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

EEG arousals and awakenings in relation with periodic leg movements during sleep. (1/86)

It is known that periodic leg movements are frequently accompanied by full awakenings or by signs of EEG arousals. The time relationship of these EEG arousals with leg movements varies from patient to patient. They may precede or follow leg movements or occur simultaneously. It is not clear whether these arousals trigger leg movements or, alternatively, whether both EEG arousals and leg movements are separate expressions of a common pathophysiological mechanism. We investigated the temporal relationship of five EEG arousals, such as alpha activity, K-complexes, spindles, K-alpha, K-spindle activities and awakenings, with leg movements in 10 periodic leg movement patients. These EEG arousals were considered to be associated with leg movements if they occurred 10 s before/after or simultaneously with the onset of right or left tibialis muscle EMG potentials. It was found that 49.19% of EEG arousals occurred before leg movements, 30.61% occurred simultaneously and 23.18% occurred just after leg movements. The number of EEG arousals was significantly higher in the 10 s preceding leg movement than simultaneously or in the 10 s following. Alpha activity was the phenomenon associated most frequently with leg movements, irrespective of its temporal organization and was significantly higher during the 10 s preceding movement. Spindle and K-spindle activities were significantly higher before leg movement, whereas K-complex activity was significantly more frequent during leg movements. The number of awakenings was significantly higher after leg movements than simultaneously. These results indicated that leg movements are not primary, but rather are a phenomenon associated with an underlying arousal disorder.  (+info)

Periodic limb movement disorder : a clinical and polysomnographic study. (2/86)

Periodic limb movement disorder (PLMD) is one of the commonest neurological disorders and causes significant disability, if left untreated. However, it is rarely diagnosed in clinical practice, probably due to lack of awareness and/or lack of necessary diagnostic facilities. Restless leg syndrome (RLS), aging, pregnancy, uraemia, iron deficiency, polyneuropathy are some of the common causes of secondary PLMD. Clinical presentation, polysomnographic findings and management of six patients of PLMD have been discussed in this report.  (+info)

Periodic limb movement disorder of sleep in children. (3/86)

To characterize periodic limb movement disorder (PLMD) in a cohort of prepubertal children we examined sleep-related identifiable differences between children with PLMD and attention-deficit/hyperactivity disorder (ADHD), PLMD alone, and age-matched controls. Children were selected from a chart review of all children referred to a pediatric sleep medicine center and from a community survey of 5-7-year-old-children. Polysomnography (PSG) and parental report data from all children identified as having periodic limb movement index (PLMI) >5 were reviewed and compared with a cohort of age-matched controls. A total of 8.4% of children in the clinic-referred sample, and 11.9% of the children recruited from the community had PLMI >5. Of those, 44.4% were identified as having ADHD. Children with PLMD had significantly lower percentage of rapid eye movement (REM) than control children (P < 0.001). Children in the PLMD/ADHD group had a significantly greater number of arousals associated with PLM (PLMa) than children with PLMD only (P < 0.05). While a relationship between ADHD and PLMD was observed, it was weaker than previous reports (Chervin, R. D. et al. Sleep, 2002; 25: 213; Chervin, R. D. and Archbold, K. H. Sleep, 2001; 24: 313; Picchietti et al. J. Child Neurol., 1999; 13: 588; Picchietti et al. Mov. Disord., 1999; 14: 1000; Picchietti and Walters Sleep, 1999; 22: 297). Children in the PLMD/ADHD group were more likely to have PLMas than were children with PLMD only. We postulate that rather than a direct relationship between ADHD and PLMD, this link may be mediated by the presence of reduced REM sleep and more importantly by the sleep fragmentation associated with PLM-induced arousals.  (+info)

Autosomal dominant restless legs syndrome maps on chromosome 14q. (4/86)

Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible desire to move the extremities associated with paraesthesia/dysaesthesia. These symptoms occur predominantly at rest and worsen at night, resulting in nocturnal insomnia and chronic sleep deprivation. In this paper, we show significant evidence of linkage to a new locus for RLS on chromosome 14q13-21 region in a 30-member, three-generation Italian family affected by RLS and periodic leg movements in sleep (PLMS). This is the second RLS locus identified so far and the first consistent with an autosomal dominant inheritance pattern. The new RLS critical region spans 9.1 cM, between markers D14S70 and D14S1068. The maximum two-point log of odds ratio score value, of 3.23 at theta = 0.0, was obtained for marker D14S288. The accurate clinical evaluation of RLS-affected, as well as unaffected, family members allowed for the configuring of RLS as a phenotypic spectrum ranging from PLMS to RLS. Motor component, both while awake and during sleep, was an important aspect of the phenotype in the family analysed. The complementary clinical and genetic studies on multiplex families are likely to be of the utmost importance in unfolding the complete expressivity of RLS phenotype spectrum.  (+info)

The effect of cabergoline on sleep, periodic leg movements in sleep, and early morning motor function in patients with Parkinson's disease. (5/86)

To investigate the effect of the dopamine D2 and D1 receptor agonist cabergoline on sleep, periodic leg movements (PLMs) in sleep, and early morning motor performance in patients with Parkinson's disease (PD). It was hypothesized that cabergoline had long-lasting beneficial effects on sleep and PLMs in sleep in patients with PD, after a single evening intake. A total of 15 patients with idiopathic PD underwent two nights of polysomnography and motor tests (UPDRS, tapping test) before and after 6-8 weeks of treatment with cabergoline (dosage: 3-6 mg/day). Additionally, patients completed a subjective sleep visual analog scale (VAS) before and during cabergoline treatment. Compared to baseline values, treatment with cabergoline did not change sleep efficiency or the amount of stage 1 and stage 2 sleep. The number of awakenings (22.4+/-10.1 vs 32.5+/-13.3, p<0.05) and stage shifts (119+/-42 vs 148+/-46, p<0.05) were increased during treatment with cabergoline, and PLMs in sleep were reduced (PLM index 34.9+/-44.9 vs 6.7+/-4.2 per hour, p<0.05). Cabergoline significantly improved early morning motor function, and in spite of increased phase shifts and awakenings, patients felt significantly more refreshed in the morning during cabergoline therapy. Cabergoline slightly fragmented sleep, without altering its total amount. The functional significance of this finding is uncertain. The subjective quality of sleep improved, and periodic limb movements in sleep decreased.  (+info)

Periodic leg movements during sleep in Japanese community-dwelling adults based on the assessments of their bed partners. (6/86)

BACKGROUND: There is little known about epidemiologic evidence on periodic leg movements during sleep (PLMS) for the Japanese. The present study was a cross-sectional epidemiologic study to estimate the prevalence of PLMS and examine the associated factors of PLMS in Japanese community-dwelling adults. METHODS: The subjects were 884 with bed partners or bedroom mates of 1,889 Japanese adults aged 20 years and over randomly selected from the general population. The case ascertainment of PLMS was based on the assessments of their bed partners or bedroom mates using the Pittsburgh Sleep Quality Index. Multiple logistic regression analyses were used for investigating the associated factors. RESULTS: The age-adjusted prevalences (95% confidence interval) were 5.8% (4.7-6.8%) and 1.3% (0.8-1.9%) for 1 to 2-times, and 3-times or greater of PLMS per week during the preceding month, respectively. Those with PLMS were more likely to experience difficulty in initiating sleep, snore during sleep, be depressed, and suffer from peptic ulcer. Sex, age, difficulty in maintaining sleep, excessive daytime sleepiness, medication use to aid sleep, and any psychoactive substances (tobacco, alcohol, and caffeine) were not identified as significant associated factors of PLMS. CONCLUSIONS: The results suggest that the prevalence of PLMS in Japanese community-dwelling adults is not so high as those reported from Western countries, and that PLMS is correlated with some sleep and health disturbances.  (+info)

Activity patterns of leg muscles in periodic limb movement disorder. (7/86)

The movements of leg muscles in reference to periodic limb movement disorder (PLMD) have only been described in global terms. The sequences of contracting muscles that cause the PLMs are said to be stereotypical. There is, however, doubt about this fixed sequencing in PLMD. Our goal was to define the sequence of muscle movements in PLMs and then analyse their patterns. We recorded with surface EMG all movements of the muscles said to be involved in PLMs (extensor digitorum brevis, EDB; tibialis anterior, TA; biceps femoris, BF; tensor fasciae latae; TFL) as well as the quadriceps (Q) and soleus (S) muscles in 12 patients with restless legs syndrome combined with PLMD. Accompanying polysomnography provided the sleep parameters. In total, 469 movements were analysed. In only 12% was there the appearance of the classic movement (EDB-TA-BF-TFL) or its direct variants. The most frequent sequences were characterised by contraction of only the TA, TA-EDB only, or TA-EDB followed by all other combinations (32%). The pattern EDB only, EDB-TA, or EDB-TA followed by contraction of one or more other muscles, was seen in 18%. All other combinations appeared in much smaller numbers or only once. Eight patients had specific patterns. Three consistently started with the same muscle. One patient always contracted all six muscles. Six patients never contracted more than three muscles. The number of muscles contracted correlated positively with the appearance of arousal from sleep. The interval between onset of contractions within the PLMs varied randomly in a range of 0-1 s. Within PLMs many variations of muscle movements were documented. Patterns were recognisable, individually determined, and related to arousal from sleep.  (+info)

Interrater reliability between scorers from eight European sleep laboratories in subjects with different sleep disorders. (8/86)

Interrater variability of sleep stage scorings is a well-known phenomenon. The SIESTA project offered the opportunity to analyse interrater reliability (IRR) between experienced scorers from eight European sleep laboratories within a large sample of patients with different (sleep) disorders: depression, general anxiety disorder with and without non-organic insomnia, Parkinson's disease, period limb movements in sleep and sleep apnoea. The results were based on 196 recordings from 98 patients (73 males: 52.3 +/- 12.1 years and 25 females: 49.5 +/- 11.9 years) for which two independent expert scorings from two different laboratories were available. Cohen's kappa was used to evaluate the IRR on the basis of epochs and intraclass correlation was used to analyse the agreement on quantitative sleep parameters. The overall level of agreement when five different stages were distinguished was kappa = 0.6816 (76.8%), which in terms of kappa reflects a 'substantial' agreement (Landis and Koch, 1977). For different groups of patients kappa values varied from 0.6138 (Parkinson's disease) to 0.8176 (generalized anxiety disorder). With regard to (sleep) stages, the IRR was highest for rapid eye movement (REM), followed by Wake, slow-wave sleep (SWS), non-rapid eye movement 2 (NREM2) and NREM1. The results of regression analysis showed that age and sex only had a statistically significant effect on kappa when the (sleep) stages are considered separately. For NREM2 and SWS a statistically significant decrease of IRR with age has been observed and the IRR for SWS was lower for males than for females. These variations of IRR most probably reflect changes of the sleep electroencephalography (EEG) with age and gender.  (+info)

Myoclonus is a medical term that describes a quick, involuntary jerking muscle spasm. These spasms can happen once or repeat in a series, and they can range from mild to severe in nature. Myoclonus can affect any muscle in the body and can be caused by several different conditions, including certain neurological disorders, injuries, or diseases. In some cases, myoclonus may occur without an identifiable cause.

There are various types of myoclonus, classified based on their underlying causes, patterns of occurrence, and associated symptoms. Some common forms include:

1. Action myoclonus: Occurs during voluntary muscle movements
2. Stimulus-sensitive myoclonus: Triggered by external or internal stimuli, such as touch, sound, or light
3. Physiological myoclonus: Normal muscle jerks that occur during sleep onset (hypnic jerks) or during sleep (nocturnal myoclonus)
4. Reflex myoclonus: Result of a reflex arc activation due to a peripheral nerve stimulation
5. Epileptic myoclonus: Part of an epilepsy syndrome, often involving the brainstem or cortex
6. Symptomatic myoclonus: Occurs as a result of an underlying medical condition, such as metabolic disorders, infections, or neurodegenerative diseases

Treatment for myoclonus depends on the specific type and underlying cause. Medications, physical therapy, or lifestyle modifications may be recommended to help manage symptoms and improve quality of life.

Nocturnal Myoclonus Syndrome, also known as Periodic Limb Movement Disorder (PLMD), is a condition characterized by recurring involuntary jerking movements of the limbs during sleep, particularly the legs. These movements typically occur every 20-40 seconds and can last for an hour or more throughout the night. They often disrupt normal sleep patterns, causing insomnia or excessive daytime sleepiness.

The movements are usually jerky, rapid, and rhythmic, involving extension of the big toe and flexion of the ankle, knee, or hip. In some cases, these movements can be so forceful that they cause the person to wake up, although often individuals with this condition may not be aware of their nighttime leg movements.

Nocturnal Myoclonus Syndrome is different from another common sleep disorder called Restless Legs Syndrome (RLS), as RLS primarily causes discomfort or an irresistible urge to move the legs while awake and still, whereas Nocturnal Myoclonus Syndrome involves involuntary movements during sleep. However, up to 80% of people with RLS also have PLMD.

The exact cause of Nocturnal Myoclonus Syndrome is not fully understood, but it may be associated with abnormalities in the brain's regulation of muscle activity during sleep. Certain medications, neurological conditions, and iron deficiency anemia have been linked to an increased risk of developing this disorder. Treatment options include medication, lifestyle changes, and addressing any underlying medical conditions that may contribute to the development or worsening of symptoms.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Myoclonic epilepsies are a group of epilepsy syndromes characterized by the presence of myoclonic seizures. A myoclonic seizure is a type of seizure that involves quick, involuntary muscle jerks or twitches. These seizures can affect one part of the body or multiple parts simultaneously and may vary in frequency and severity.

Myoclonic epilepsies can occur at any age but are more common in infancy, childhood, or adolescence. Some myoclonic epilepsy syndromes have a genetic basis, while others may be associated with brain injury, infection, or other medical conditions.

Some examples of myoclonic epilepsy syndromes include:

1. Juvenile Myoclonic Epilepsy (JME): This is the most common type of myoclonic epilepsy and typically begins in adolescence. It is characterized by myoclonic jerks, often occurring upon awakening or after a period of relaxation, as well as generalized tonic-clonic seizures.
2. Progressive Myoclonic Epilepsies (PME): These are rare inherited disorders that typically begin in childhood or adolescence and involve both myoclonic seizures and other types of seizures. PMEs often progress to include cognitive decline, movement disorders, and other neurological symptoms.
3. Lennox-Gastaut Syndrome (LGS): This is a severe form of epilepsy that typically begins in early childhood and involves multiple types of seizures, including myoclonic seizures. LGS can be difficult to treat and often results in cognitive impairment and developmental delays.
4. Myoclonic Astatic Epilepsy (MAE): Also known as Doose syndrome, MAE is a childhood epilepsy syndrome characterized by myoclonic seizures, atonic seizures (brief periods of muscle weakness or loss of tone), and other types of seizures. It often responds well to treatment with antiepileptic drugs.

The management of myoclonic epilepsies typically involves a combination of medication, lifestyle changes, and, in some cases, dietary modifications. The specific treatment plan will depend on the type of myoclonic epilepsy and its underlying cause.

Progressive Myoclonic Epilepsies (PME) is a group of rare, genetic disorders characterized by myoclonus (rapid, involuntary muscle jerks), tonic-clonic seizures (also known as grand mal seizures), and progressive neurological deterioration. The term "progressive" refers to the worsening of symptoms over time.

The myoclonic epilepsies are classified as progressive due to the underlying neurodegenerative process that affects the brain, leading to a decline in cognitive abilities, motor skills, and overall functioning. These disorders usually begin in childhood or adolescence and tend to worsen with age.

Examples of PMEs include:

1. Lafora disease: A genetic disorder caused by mutations in the EPM2A or NHLRC1 genes, leading to the accumulation of abnormal protein aggregates called Lafora bodies in neurons. Symptoms typically start between ages 6 and 16 and include myoclonus, seizures, and progressive neurological decline.
2. Unverricht-Lundborg disease: Also known as Baltic myoclonus, this is an autosomal recessive disorder caused by mutations in the CSTB gene. It is characterized by progressive myoclonic epilepsy, ataxia (loss of coordination), and cognitive decline. Symptoms usually begin between ages 6 and 18.
3. Neuronal Ceroid Lipofuscinoses (NCLs): A group of inherited neurodegenerative disorders characterized by the accumulation of lipopigments in neurons. Several types of NCLs can present with progressive myoclonic epilepsy, including CLN2 (late-infantile NCL), CLN3 (juvenile NCL), and CLN6 (early juvenile NCL).
4. Myoclonus Epilepsy Associated with Ragged Red Fibers (MERRF): A mitochondrial disorder caused by mutations in the MT-TK gene, leading to myoclonic epilepsy, ataxia, and ragged red fibers on muscle biopsy.
5. Dentatorubral-Pallidoluysian Atrophy (DRPLA): An autosomal dominant disorder caused by mutations in the ATN1 gene, characterized by myoclonic epilepsy, ataxia, chorea (involuntary movements), and dementia.

These are just a few examples of disorders that can present with progressive myoclonic epilepsy. It is essential to consult a neurologist or epileptologist for proper diagnosis and management.

Lafora Disease is a rare, inherited, progressive myoclonus epilepsy (PME) disorder. It is characterized by the accumulation of abnormal glycogen particles called Lafora Bodies in nerve cells (neurons) throughout the body, most prominently in the brain and muscle tissue.

The disease typically begins in late childhood or early adolescence with symptoms such as:
- Seizures (myoclonic jerks, tonic-clonic seizures, absence seizures)
- Visual hallucinations
- Dementia
- Speech difficulties
- Muscle stiffness and rigidity
- Difficulty walking and coordinating movements

Lafora Disease is caused by mutations in either the EPM2A or NHLRC1 gene, which play a role in regulating glycogen metabolism. The disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

There is currently no cure for Lafora Disease and treatment is focused on managing symptoms with anti-epileptic drugs and supportive care. The prognosis for individuals with Lafora Disease is poor, with most individuals not surviving beyond their mid-20s.

Unverricht-Lundborg syndrome, also known as Progressive Myoclonus Epilepsy type 1 or PME1, is a rare inherited neurological disorder characterized by progressive myoclonus (involuntary jerking movements), tonic-clonic seizures (grand mal seizures), and sometimes cognitive decline. It typically begins in childhood or adolescence. The condition is caused by mutations in the CSTB gene, which provides instructions for making a protein called cystatin B that helps regulate the activity of enzymes involved in brain function. The exact role of cystatin B in the brain and how its deficiency leads to Unverricht-Lundborg syndrome is not fully understood.

Cystatin B is a type of protease inhibitor that belongs to the cystatin superfamily. It is primarily produced in the central nervous system and is found in various body fluids, including cerebrospinal fluid and urine. Cystatin B plays a crucial role in regulating protein catabolism by inhibiting lysosomal cysteine proteases, which are enzymes that break down proteins.

Defects or mutations in the gene that encodes for cystatin B have been associated with a rare inherited neurodegenerative disorder known as Uner Tan Syndrome (UTS). UTS is characterized by language impairment, mental retardation, and distinctive facial features. The exact mechanism by which cystatin B deficiency leads to this disorder is not fully understood, but it is thought to involve the dysregulation of protein catabolism in neurons, leading to neurotoxicity and neurodegeneration.

Clonazepam is a medication that belongs to a class of drugs called benzodiazepines. It is primarily used to treat seizure disorders, panic attacks, and anxiety. Clonazepam works by increasing the activity of gamma-aminobutyric acid (GABA), a neurotransmitter in the brain that has a calming effect on the nervous system.

The medication comes in tablet or orally disintegrating tablet form and is typically taken two to three times per day. Common side effects of clonazepam include dizziness, drowsiness, and coordination problems. It can also cause memory problems, mental confusion, and depression.

Like all benzodiazepines, clonazepam has the potential for abuse and addiction, so it should be used with caution and only under the supervision of a healthcare provider. It is important to follow the dosage instructions carefully and not to stop taking the medication suddenly, as this can lead to withdrawal symptoms.

It's important to note that while I strive to provide accurate information, this definition is intended to be a general overview and should not replace professional medical advice. Always consult with a healthcare provider for medical advice.

An abnormal reflex in a medical context refers to an involuntary and exaggerated response or lack of response to a stimulus that is not expected in the normal physiological range. These responses can be indicative of underlying neurological disorders or damage to the nervous system. Examples include hyperreflexia (overactive reflexes) and hyporeflexia (underactive reflexes). The assessment of reflexes is an important part of a physical examination, as it can provide valuable information about the functioning of the nervous system.

Myoclonic Epilepsy with Ragged Red Fibers (MERRF) is a rare mitochondrial disorder, which is a group of genetic disorders that affect the energy production within cells. It is characterized by multiple symptoms including myoclonus (jerky, involuntary muscle spasms), epilepsy (recurrent seizures), ataxia (lack of coordination and balance), dementia, and weakness. The name "MERRF" comes from the characteristic finding of "ragged red fibers" in muscle biopsies when viewed under a microscope using special stains. These fibers are abnormal muscle cells containing clusters of abnormal mitochondria. MERRF is caused by mutations in the mitochondrial DNA, most commonly the A8344G point mutation in the MT-TK gene. It is typically inherited from the mother and can affect multiple organs throughout the body.

Myoclonic cerebellar dyssynergia is not a widely recognized or formally defined medical term. However, based on its individual components, it can be inferred to refer to a neurological condition characterized by:

1. Myoclonus: These are sudden, involuntary jerking movements of a muscle or group of muscles. They typically occur as a result of hyperexcitability of the neurons in the brain that control movement (motor neurons).
2. Cerebellar: The cerebellum is a part of the brain responsible for coordinating muscle movements, maintaining posture and balance, and fine-tuning motor skills. When a condition is described as "cerebellar," it implies that there is some dysfunction or abnormality in this region of the brain.
3. Dyssynergia: This term refers to a lack of coordination between muscles and muscle groups during voluntary movements. It can result from damage to the cerebellum or other parts of the nervous system involved in motor control.

Therefore, myoclonic cerebellar dyssynergia could be interpreted as a condition characterized by involuntary muscle jerks (myoclonus) and impaired coordination of voluntary movements (dyssynergia), likely due to cerebellar dysfunction. However, it is essential to consult with a medical professional for an accurate diagnosis and treatment plan if you or someone else experiences symptoms that may align with this description.

Somatosensory evoked potentials (SEPs) are electrical signals generated in the brain and spinal cord in response to the stimulation of peripheral nerves. These responses are recorded and measured to assess the functioning of the somatosensory system, which is responsible for processing sensations such as touch, temperature, vibration, and proprioception (the sense of the position and movement of body parts).

SEPs are typically elicited by applying electrical stimuli to peripheral nerves in the arms or legs. The resulting neural responses are then recorded using electrodes placed on the scalp or other locations on the body. These recordings can provide valuable information about the integrity and function of the nervous system, and are often used in clinical settings to diagnose and monitor conditions such as nerve damage, spinal cord injury, multiple sclerosis, and other neurological disorders.

SEPs can be further categorized based on the specific type of stimulus used and the location of the recording electrodes. For example, short-latency SEPs (SLSEPs) are those that occur within the first 50 milliseconds after stimulation, and are typically recorded from the scalp over the primary sensory cortex. These responses reflect the earliest stages of sensory processing and can be used to assess the integrity of the peripheral nerves and the ascending sensory pathways in the spinal cord.

In contrast, long-latency SEPs (LLSEPs) occur after 50 milliseconds and are typically recorded from more posterior regions of the scalp over the parietal cortex. These responses reflect later stages of sensory processing and can be used to assess higher-level cognitive functions such as attention, memory, and perception.

Overall, SEPs provide a valuable tool for clinicians and researchers seeking to understand the functioning of the somatosensory system and diagnose or monitor neurological disorders.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

J Neurol Sci 45: 41-45 Sandyk R, Gillman MA (1986) The opioid system in the restless legs and nocturnal myoclonus Syndromes. ... Gillman also led a team that helped to uncover endorphin links to human sexual response, anorexia nervosa, Tourette syndrome, ...
Bedwetting or sleep enuresis Bruxism (Tooth-grinding) Catathrenia - nocturnal groaning Exploding head syndrome - Waking up in ... including hypneic jerks and nocturnal myoclonus. Rapid eye movement sleep behavior disorder (RBD), acting out violent or ... Several types of sleep apnea Snoring Upper airway resistance syndrome Restless leg syndrome Periodic limb movement disorder ... Kleine-Levin syndrome, a rare disorder characterized by persistent episodic hypersomnia and cognitive or mood changes ...
... nocturnal myoclonus (G25.80), nightmares (F51.5), nonorganic sleep disorders (F51.-), sleep terrors (F51.4), sleepwalking ( ... pickwickian syndrome (E66.2), sleep apnoea of newborn (P28.3) G47.30 Alveolar hypoventilation syndrome G47.31 Central sleep ... unspecified 8A10 Restless legs syndrome 8A11 Secondary restless legs syndrome 8A12 Periodic limb movements disorder 8A13 Sleep- ... nocturnal leg cramps (R25.20) G47.830 Sleep related rhythmic movement disorder, head-banging (jactatio capitis noctunus) ...
... nocturnal myoclonus syndrome MeSH C10.886.425.800.700 - restless legs syndrome MeSH C10.886.425.800.750 - sleep apnea syndromes ... nocturnal myoclonus syndrome MeSH C10.886.659.627 - nocturnal paroxysmal dystonia MeSH C10.886.659.633 - rem sleep parasomnias ... cri-du-chat syndrome MeSH C10.597.606.643.210 - de lange syndrome MeSH C10.597.606.643.220 - down syndrome MeSH C10.597.606.643 ... melas syndrome MeSH C10.228.140.163.100.540 - menkes kinky hair syndrome MeSH C10.228.140.163.100.545 - merrf syndrome MeSH ...
The three main signs of hyperekplexia are generalized stiffness, excessive startle beginning at birth and nocturnal myoclonus. ... Myotonia Jumping Frenchmen of Maine Latah Stiff-person syndrome Beers, Mark H. MD (2006). The Merck Manual (16th ed.). ... Kok and Bruyn reported an unidentified hereditary syndrome, which initially presented as hypertonia in infants. Genetic ... "Startle Syndromes". Lancet Neurology. 5 (6): 513-524. doi:10.1016/S1474-4422(06)70470-7. PMID 16713923. S2CID 24056686. van de ...
Neurological examination disclosed diffuse muscle twitching and spontaneous and reflex myoclonus, slight muscle atrophy in the ... and complex nocturnal behavior improved and these symptoms completely disappeared after the sixth session, with improvement in ... Morvan's syndrome is a rare, life-threatening autoimmune disease named after the nineteenth century French physician Augustin ... Binding of serum from a patient with Morvan's Syndrome to the hippocampus in a similar pattern of antibodies to known VGKC ...
... and myoclonus. Stuttering and restless legs syndrome are some of the less common associations. A less common side effect of ... Amitriptyline can be used in the treatment of nocturnal enuresis in children. However, its effect is not sustained after the ... It can be used for the treatment of nocturnal enuresis in children older than 6 after other treatments have failed. ... Amitriptyline may improve pain and urgency intensity associated with bladder pain syndrome and can be used in the management of ...
... is the most common epilepsy syndrome in childhood. Most children will outgrow the syndrome (it starts around the age of 3-13 ... Given the nocturnal activity, a sleep EEG can often be helpful. Technically, the label "benign" can only be confirmed if the ... Negative myoclonus can be observed in some cases, as an interruption of tonic muscular activity Oropharyngolaryngeal ictal ... central spikes in Rett syndrome and fragile X syndrome, malignant Rolandic epilepsy, temporal lobe epilepsy and Landau-Kleffner ...
Sudden twitches and hypnic jerks, also known as positive myoclonus, may be associated with the onset of sleep during N1. Some ... Kern W, Dodt C, Born J, Fehm HL (January 1996). "Changes in cortisol and growth hormone secretion during nocturnal sleep in the ... "Delayed sleep phase syndrome. A chronobiological disorder with sleep-onset insomnia". Archives of General Psychiatry. 38 (7): ... For example, studies based on declarative and procedural memory tasks applied over early and late nocturnal sleep, as well as ...
... opsoclonus myoclonus syndrome (a paraneoplastic syndrome), and Nigerian seasonal ataxia (or African seasonal ataxia). In ... on exertion Paroxysmal nocturnal dyspnea Peripheral edema (swelling of lower legs) or generalized edema (swelling throughout ... Wernicke's encephalopathy (WE), Korsakoff syndrome (also called alcohol amnestic disorder), and Wernicke-Korsakoff syndrome are ... Korsakoff syndrome, in general, is considered to occur with deterioration of brain function in patients initially diagnosed ...
... associated with a lower quality of life in children with monosymptomatic nocturnal enuresis Hypnic jerk Restless legs syndrome ... events are also very similar to PLMS and could be misdiagnosed excessive fragmentary myoclonus (EFM) events are shorter than ... PLMD appears to be related to restless legs syndrome (RLS) - a study of 133 people found that 80% of those with RLS also had ... However the opposite is not true: many people who have PLMS do not also have restless legs syndrome. PLMD is an uncommon ...
Seizures are typically nocturnal and confined to sleep. The EEG may demonstrate spike discharges that occur over the ... Diseases usually classified in this group are Unverricht-Lundborg disease, myoclonus epilepsy with ragged red fibers (MERRF ... for instance Lennox-Gastaut syndrome. Clinical syndromes in which epilepsy is not the main feature (e.g. Angelman syndrome) ... for instance Lennox-Gastaut syndrome and West syndrome. Epilepsy syndromes are classified as per the age onset. Epilepsies with ...
... tourette syndrome, trichotillomania, irritable bowel syndrome (IBS), interstitial cystitis (IC), nocturnal enuresis (NE), ... myoclonus, hyperreflexia, convulsions, drowsiness Pulmonary effects: hypoventilation resulting from CNS depression ... They are also used in the treatment of a number of other medical disorders, including cyclic vomiting syndrome (CVS) and ... In tricyclics, discontinuation syndrome symptoms include anxiety, insomnia, headache, nausea, malaise, or motor disturbance. ...
... including Stevens-Johnson syndrome (SJS), DRESS syndrome, and toxic epidermal necrolysis (TEN). The manufacturer states that ... The movement disorders associated with lamotrigine were tics, akathisias, dyskinesias, myoclonus, parkinsonism, dystonia, ... "Effects of lamotrigine on nocturnal sleep, daytime somnolence and cognitive functions in focal epilepsy". Acta Neurologica ... Lamotrigine is one of a small number of FDA-approved therapies for the form of epilepsy known as Lennox-Gastaut syndrome. It ...
Serotonin syndrome is typically caused by the use of two or more serotonergic drugs, including SSRIs. Serotonin syndrome is a ... Mild symptoms may consist of increased heart rate, fever, shivering, sweating, dilated pupils, myoclonus (intermittent jerking ... Albayrak Y, Ekinci O (2011). "Duloxetine-induced nocturnal bruxism resolved by buspirone: case report". Clinical ... It is considered a distinct phenomenon from antidepressant discontinuation syndrome, post-acute withdrawal syndrome, and major ...
NPR2 Action myoclonus-renal failure syndrome; 254900; SCARB2 Acyl-CoA dehydrogenase, long chain, deficiency of; 201460; ACADL ... nocturnal frontal lobe, 1; 600513; CHRNA4 Epilepsy, nocturnal frontal lobe, 3; 605375; CHRNB2 Epilepsy, nocturnal frontal lobe ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ...
Restless legs syndrome (RLS) is a nervous system problem that causes you to feel an unstoppable urge to get up and pace or walk ... Restless legs syndrome fact sheet. www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Restless-Legs-Syndrome- ... Restless legs syndrome (RLS) is a nervous system problem that causes you to feel an unstoppable urge to get up and pace or walk ... Allen RP, Montplaisir J, Walters AS, Ferini-Strambi L, Hogl B. Restless legs syndrome and periodic limb movements during sleep ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
Restless leg syndrome. *. Periodic limb movement disorder. *. Nocturnal leg cramps (nocturnal myoclonus). ... Central alveolar hypoventilation syndrome. 780.51-1. 5f. Altitude insomnia. 289. Altitude insomnia. 289. Other altitude effects ... Central sleep apnoea syndrome. 780.51-0. Insomnia with sleep apnoea. 780.53. Sleep apnoea. G47.3. Breathing-related sleep ... The diagnostic criteria for any other sleep disorder capable of causing the symptoms (e.g. obstructive sleep apnoea syndrome or ...
Nocturnal Myoclonus Syndrome / blood Actions. * Search in PubMed * Search in MeSH * Add to Search ... The restless legs syndrome and periodic limb movement disorder: a review of management. Lesage S, Hening WA. Lesage S, et al. ... Brain-iron deficiency models of restless legs syndrome. Earley CJ, Jones BC, Ferré S. Earley CJ, et al. Exp Neurol. 2022 Oct; ... Periodic limb movements in sleep--endophenotype for restless legs syndrome? Winkelman JW. Winkelman JW. N Engl J Med. 2007 Aug ...
J Neurol Sci 45: 41-45 Sandyk R, Gillman MA (1986) The opioid system in the restless legs and nocturnal myoclonus Syndromes. ... Gillman also led a team that helped to uncover endorphin links to human sexual response, anorexia nervosa, Tourette syndrome, ...
Restless Legs Syndrome and Periodic Limb Movement Disorder (R01) PA-07-202. NINDS ... Periodic limb movement disorder is also referred to as periodic leg movements (PLMs), nocturnal myoclonus, periodic movements ... nocturnal myoclonus, periodic movements in sleep (PMS), and leg jerks. The overwhelming majority of patients with RLS also have ... Restless Legs Syndrome (RLS) is a common neurological disorder characterized by unpleasant sensations of the legs and an urge ...
Restless Legs Syndrome and Periodic Limb Movement Disorder PA-05-032. NINDS ... Periodic limb movement disorder is also referred to as periodic leg movements (PLMs), nocturnal myoclonus, periodic movements ... nocturnal myoclonus, periodic movements in sleep (PMS), and leg jerks. The overwhelming majority of patients with RLS also have ... Title: Restless Legs Syndrome and Periodic Limb Movement Disorder Announcement Type This is a reissue of PA-01-086, which was ...
Nocturnal Myoclonus Syndrome 1 0 Cell Transformation, Neoplastic 1 0 Cervical Intraepithelial Neoplasia 1 0 ...
The incidence of nocturnal myoclonus increases with age, and the likelihood of an associated sleep-wake complaint is related to ... Obstructive sleep apnea syndrome, restless legs syndrome, and insomnia in geriatric patients. Geriatrics. Nov 2002. 57(11):34-9 ... PLMS, or nocturnal myoclonus, is repetitive, unilateral, or bilateral stereotyped leg jerks that arouse the patient from sleep ... Sundown syndrome is a behavioral phenomenon closely related to disturbed circadian rhythms [19] with incident rates of up to 66 ...
Understanding the presence of seizures in Fragile X syndrome and its prevalence in relation to the general population. ... benign nocturnal myoclonus (twitching when falling asleep), night terrors, migraine, panic attack, fainting, hyperventilation, ... Seizures in Fragile X Syndrome. The largest and most definitive study yet published on seizures in Fragile X syndrome↗ was ... Seizures in Fragile X Syndrome. Save a printable download on understanding seizures in Fragile X syndrome, including data from ...
Nocturnal Myoclonus Syndrome Medicine & Life Sciences 100% * Restless Legs Syndrome Medicine & Life Sciences 77% ... An update on the dopaminergic treatment of restless legs syndrome and periodic limb movement disorder. In: Sleep. 2004 ; Vol. ... An update on the dopaminergic treatment of restless legs syndrome and periodic limb movement disorder. Sleep. 2004;27(3):560- ... For this reason, the Restless Legs Syndrome Task Force and the Standards of Practice Committee decided to update the evidence ...
Myoclonus Syndrome, Nocturnal Myoclonus Syndrome, Sleep Myoclonus Syndromes, Sleep Nocturnal Myoclonus Syndromes Periodic Leg ... Myoclonus Syndrome, Nocturnal. Myoclonus Syndrome, Sleep. Myoclonus Syndromes, Sleep. Nocturnal Myoclonus Syndromes. Periodic ... Syndrome, Nocturnal Myoclonus. Syndrome, Sleep Myoclonus. Syndromes, Sleep Myoclonus. Tree number(s):. C10.886.425.800.600. ... Sleep Myoclonus Syndrome Sleep Myoclonus Syndromes Sleep Related Periodic Leg Movements, Excessive Sleep-Related Periodic Leg ...
Nocturnal Myoclonus Syndrome Preferred Term Term UI T358315. Date10/12/1999. LexicalTag NON. ThesaurusID NLM (2000). ... Nocturnal Myoclonus Syndrome. Tree Number(s). C10.886.425.800.600. C10.886.659.618. Unique ID. D020189. RDF Unique Identifier. ... Nocturnal Myoclonus Syndrome Preferred Concept UI. M0328315. Scope Note. Excessive periodic leg movements during sleep that ... Sleep Myoclonus Syndrome Term UI T367359. Date10/12/1999. LexicalTag NON. ThesaurusID NLM (2000). ...
Nocturnal Myoclonus Syndrome Preferred Term Term UI T358315. Date10/12/1999. LexicalTag NON. ThesaurusID NLM (2000). ... Nocturnal Myoclonus Syndrome. Tree Number(s). C10.886.425.800.600. C10.886.659.618. Unique ID. D020189. RDF Unique Identifier. ... Nocturnal Myoclonus Syndrome Preferred Concept UI. M0328315. Scope Note. Excessive periodic leg movements during sleep that ... Sleep Myoclonus Syndrome Term UI T367359. Date10/12/1999. LexicalTag NON. ThesaurusID NLM (2000). ...
... and nocturnal myoclonus (night-time muscular spasm), and awakening unrefreshed. Some also experience difficulty falling asleep ... Diagnosis and Treatment of ME/CFS Syndrome: A Systematic Review of the Evidence ... also known as POTS or postural orthostatic tachycardia syndrome), and/or low or high blood pressure (known as orthostatic hypo ... prescription medications for the management of postural orthostatic tachycardia syndrome (POTS) and neurally mediated ...
Myoclonus Syndrome, Nocturnal Myoclonus Syndrome, Sleep Myoclonus Syndromes, Sleep Nocturnal Myoclonus Syndromes Periodic Leg ... Myoclonus Syndrome, Nocturnal. Myoclonus Syndrome, Sleep. Myoclonus Syndromes, Sleep. Nocturnal Myoclonus Syndromes. Periodic ... Syndrome, Nocturnal Myoclonus. Syndrome, Sleep Myoclonus. Syndromes, Sleep Myoclonus. Tree number(s):. C10.886.425.800.600. ... Sleep Myoclonus Syndrome Sleep Myoclonus Syndromes Sleep Related Periodic Leg Movements, Excessive Sleep-Related Periodic Leg ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
NOCTURNAL MYOCLONUS SYNDROME SINDROME DE MIOCLONIA NOCTURNA SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL PAROXYSMAL DYSTONIA ... KLUVER-BUCY SYNDROME SINDROME DE KLUVER-BUCY SÍNDROME DE KLUVER-BUCY KORSAKOFF SYNDROME SINDROME DE KORSAKOFF SÍNDROME DE ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE TOLOSA-HUNT TRANSURETHRAL RESECTION OF PROSTATE RESECCION TRANSURETRAL ... BARDET-BIEDL SYNDROME SINDROME DE BARDET-BIEDL SÍNDROME DE BARDET-BIEDL BASAL GANGLIA CEREBROVASCULAR DISEASE ENFERMEDAD ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
ANTERIOR SPINAL ARTERY SYNDROME SINDROME DE LA ARTERIA ESPINAL ANTERIOR SÍNDROME DA MIOCLONIA NOTURNA NOCTURNAL MYOCLONUS ... CENTRAL CORD SYNDROME SINDROME DEL CORDON CENTRAL SÍNDROMES DA DOR REGIONAL COMPLEXA COMPLEX REGIONAL PAIN SYNDROMES SINDROMES ... TOLOSA-HUNT SYNDROME SINDROME DE TOLOSA-HUNT SÍNDROME DE UNVERRICHT-LUNDBORG UNVERRICHT-LUNDBORG SYNDROME SINDROME DE ... MYASTHENIC SYNDROMES, CONGENITAL SINDROMES MIASTENICOS CONGENITOS SÍNDROMES NEUROCUTÂNEAS NEUROCUTANEOUS SYNDROMES SINDROMES ...
  • Restless legs syndrome (RLS) is a nervous system problem that causes you to feel an unstoppable urge to get up and pace or walk. (medlineplus.gov)
  • This disorder is also known as restless legs syndrome/Willis-Ekbom disease (RLS/WED). (medlineplus.gov)
  • Allen RP, Montplaisir J, Walters AS, Ferini-Strambi L, Hogl B. Restless legs syndrome and periodic limb movements during sleep. (medlineplus.gov)
  • The restless legs syndrome (RLS) is a common neurologic disorder characterized by an irresistible urge to move the legs. (nih.gov)
  • J Neurol Sci 45: 41-45 Sandyk R, Gillman MA (1986) The opioid system in the restless legs and nocturnal myoclonus Syndromes. (wikipedia.org)
  • The National Institute of Neurological Disorders and Stroke (NINDS), the National Institute on Aging (NIA), the National Heart, Lung, and Blood Institute (NHLBI), and the National Institute of Arthritis and Skin Diseases (NIAMS) encourage submission of investigator-initiated research grant applications to study restless legs syndrome (RLS) and periodic limb movement disorder. (nih.gov)
  • This paper reviews evidence from April, 1998 through April 2002 for the dopaminergic treatment of the restless legs syndrome (RLS) and periodic limb movement disorder (PLMD). (illinois.edu)
  • For this reason, the Restless Legs Syndrome Task Force and the Standards of Practice Committee decided to update the evidence on dopaminergic treatment of these conditions. (illinois.edu)
  • The parents of the children with ADHD were more likely to have restless legs syndrome (RLS) than the parents of the control children. (illinois.edu)
  • The sensory symptoms of restless legs syndrome are paresthesias and dysesthesias in the calves and legs. (medlink.com)
  • Management of special conditions, such as restless legs syndrome in pregnancy, are addressed as well. (medlink.com)
  • The current update includes recent literature on insights into the etiopathogenesis of restless legs syndrome as well as its impact on cardiovascular health. (medlink.com)
  • Restless legs syndrome is an underdiagnosed and a very common disorder, often with a positive family history. (medlink.com)
  • Restless legs syndrome may be primary or secondary to other conditions. (medlink.com)
  • Several potential drugs are currently under investigation for treatment of restless legs syndrome. (medlink.com)
  • The first significant clinical review of restless legs syndrome was written by Ekbom in 1945. (medlink.com)
  • This woman displays the characteristic movements of restless legs syndrome and describes her complaints and those of her husband. (medlink.com)
  • Restless Leg Syndrome (RLS) is a common condition in which there may be a restless feeling in the legs, with muscle twitching, pins-and-needles, pulling, ants-crawling-under-the-skin sensation, or cramps and muscle aches. (ecureme.com)
  • Among the elderly, the risk of developing sleep disordered breathing, periodic limb movements, restless legs syndrome, REM sleep behavior disorders, insomnia, and circadian rhythm disturbances is especially increased. (owlapps.net)
  • Restless legs syndrome (RLS), an irresistible urge to move legs. (owlapps.net)
  • PLMD should not be confused with restless leg syndrome (RLS). (sleepdisordersresource.com)
  • The most common sleep disorders include insomnia, sleep apnea, restless legs syndrome, and narcolepsy. (sleepdoctor.com)
  • Periodic limb movement symptoms are only thought to be a disorder (PLMD) when insomnia or daytime sleepiness cannot be explained by any other problem, such as restless legs syndrome . (healthwise.net)
  • PLMD shares many underlying factors with restless legs syndrome, such as a hereditary link, iron deficiency anemia, nerve problems, poor blood circulation in the legs, kidney disorders, and others. (healthwise.net)
  • At least a few movements may occur during sleep in people who do not have restless legs syndrome, especially in the elderly. (healthwise.net)
  • Nocturnal polysomnography and video recording -- patient may be sent to a sleep disorder laboratory where the movements of the leg can be documented and videotaped during sleep. (ecureme.com)
  • Other limb movements in sleep, including hypneic jerks and nocturnal myoclonus. (owlapps.net)
  • Periodic limb movement disorder ( PLMD ), previously known as nocturnal myoclonus , is a sleep disorder where the patient moves limbs involuntarily during sleep, and has symptoms or problems related to the movement. (sleepdisordersresource.com)
  • The EEG is used in people with seizures to diagnose the type of epilepsy, determine if episodes are actually seizures, identify epilepsy syndromes, and help guide treatment decisions. (fragilex.org)
  • Additional, less common phenotypes consisting of neonatal encephalopathy with non-epileptic myoclonus, infantile or childhood-onset developmental and epileptic encephalopathy (DEE), and isolated intellectual disability (ID) without epilepsy have also been described. (nih.gov)
  • Lennox-Gastaut syndrome is a severe form of epilepsy that typically develops before the age of four. (qualifyingconditions.com)
  • The Epilepsy Foundation, however, notes that tonic and atonic seizures are most common in Lennox-Gastaut syndrome. (qualifyingconditions.com)
  • Although double-blind randomized, placebo-controlled studies are currently lacking, early research suggests that cannabis is effective in the treatment of severe pediatric epilepsy disorders like Lennox-Gastaut syndrome. (qualifyingconditions.com)
  • One case report analyzing a young girl with Dravet syndrome, another severe childhood epilepsy disorder, found that medical marijuana brought the child's seizure frequency from nearly 50 convulsive seizures per day to 2-3 nocturnal convulsions per month. (qualifyingconditions.com)
  • Gillman also led a team that helped to uncover endorphin links to human sexual response, anorexia nervosa, Tourette syndrome, and a treatment for substance abuse with nitrous oxide sedation used in South Africa and Scandinavia. (wikipedia.org)
  • The term "sleep disturbances" covers several sleep-related disorders, including insomnia, narcolepsy, sleep apnea, nocturnal myoclonus (periodic leg or arms jerks during sleep), and parasomnia (i.e., night terrors, sleepwalking or talking, and nightmares). (video-game-addiction.org)
  • For understanding the relationship between seizures and Fragile X syndrome. (fragilex.org)
  • Other causes of seizures have to be considered in a person with Fragile X syndrome as there could be another diagnosis in addition to the FMR1 gene mutation. (fragilex.org)
  • The largest and most definitive study yet published on seizures in Fragile X syndrome↗ was completed using the Fragile X Online Registry with Accessible Research Database (FORWARD) . (fragilex.org)
  • Physical examination helps in the diagnosis of specific epileptic syndromes that cause abnormal findings, such as dermatologic abnormalities (eg, patients with intractable generalized tonic-clonic seizures for years are likely to have injuries requiring stitches). (medscape.com)
  • Each particular epileptic syndrome has characteristic types of seizures. (doctorstrizhak.com)
  • The type of seizures caused by Lennox-Gastaut syndrome can include tonic (body stiffens, eyes deviate upward, pupils dilate, respiratory patterns become altered), atonic (brief loss of consciousness and muscle tone, abrupt falling), atypical absence (spell of staring), and myoclonic (sudden muscle jerks). (qualifyingconditions.com)
  • the treatment of nocturnal enuresis in children aged 6 years and above when organic pathology, including spina bifida and related disorders, have been excluded and no response has been achieved to all other non-drug and drug treatments, including antispasmodics and vasopressin-related products. (pillintrip.com)
  • This technique is also used to characterize the type of seizure and epileptic syndrome to optimize pharmacologic treatment and for presurgical workup. (medscape.com)
  • Selection of an anticonvulsant medication depends on an accurate diagnosis of the epileptic syndrome. (medscape.com)
  • Our findings indicate that EIF2AK2 missense variants cause a neurodevelopmental syndrome that may share phenotypic and pathogenic mechanisms with CACH/VWM. (stanfordchildrens.org)
  • Joubert syndrome (JBTS, OMIM# 213300) [ 1 ] is a rare disease with autosomal recessive inheritance, caused by the dysfunction of primary cilia and presenting as a neurodevelopmental syndrome [ 2 ]. (biomedcentral.com)
  • Video-EEG monitoring is the standard test for classifying the type of seizure or syndrome or to diagnose pseudoseizures (ie, to establish a definitive diagnosis of spells with impairment of consciousness). (medscape.com)
  • This will help determine if the event was likely an epileptic seizure versus a non-epileptic spell that might include things like shuddering, breath-holding, benign nocturnal myoclonus (twitching when falling asleep), night terrors, migraine, panic attack, fainting, hyperventilation, or heart arrhythmia. (fragilex.org)
  • The closest normal phenomenon is nocturnal myoclonus, which commonly occurs upon falling asleep. (doctorstrizhak.com)
  • While the cause of Lennox-Gastaut syndrome can't always be determined, it many cases, it be attributed to either brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. (qualifyingconditions.com)
  • Clinical features were consistent with JBTS already from infancy, yet the syndrome was not suspected before cerebral MRI later in childhood showed the characteristic molar tooth sign and ectopic neurohypophysis. (biomedcentral.com)
  • Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). (nih.gov)
  • In this study, the overall chance of having at least one seizure was 12% overall in Fragile X syndrome, 13.7% in males, and 6.2% in females. (fragilex.org)
  • Association of absence seizure with myoclonus, loss of postural tone, lip smacking, grimacing, hands fumbling, aimless walking, or other automatic behavior is referred to as complex absence. (doctorstrizhak.com)
  • It's rare for anti-seizure medications to be effective in individuals with Lennox-Gastaut syndrome. (qualifyingconditions.com)
  • Another similar survey found that CBD-enriched cannabis brought about a reduction in seizure frequency in 85% of children with Lennox-Gastaut syndrome, while 14% experienced complete seizure freedom. (qualifyingconditions.com)
  • The syndrome includes (1) pharmacological withdrawal symptoms involving the slow reversal of receptor changes directly induced in the brain by benzodiazepines, 3-5 and (2) psychological symptoms resulting indirectly from long-term benzodiazepine use, including exposure of poor stress-coping abilities and other personal difficulties. (benzo.org.uk)
  • The acute "pharmacological" benzodiazepine withdrawal syndrome is classically described as lasting 5 to 28 days, with a peak in severity around 2 weeks post-withdrawal, after which most symptoms return to pre-withdrawal levels. (benzo.org.uk)
  • We report a male patient with atypical presentation of Joubert syndrome type 23, thus expanding the phenotype. (biomedcentral.com)
  • Thus the totality of the benzodiazepine withdrawal syndrome is as difficult to define or demarcate as a bout of influenza, which may include the overlapping pathologies of acute viral toxaemia, secondary infection, and prolonged post-viral depression. (benzo.org.uk)
  • The syndrome typically causes impaired intellectual development and limits information processing, causing behavioral problems. (qualifyingconditions.com)
  • Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. (biomedcentral.com)
  • No article was found for Nocturnal Myoclonus Syndrome and TOX3[original query] . (cdc.gov)
  • Carpal tunnel syndrome has long been associated with computer use, so it's no surprise that it's a physical symptom of gaming addiction. (video-game-addiction.org)
  • Nocturnal myoclonus is the principal feature of the nocturnal myoclonus syndrome. (lecturio.com)
  • Spasm is a classical feature of West Syndrome. (doctorstrizhak.com)