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Periodic Limb Movement

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3021. Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene. (Abstract)

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene. Hyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the alpha1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, the mother has periodic limb movements during sleep. This suggests that Hys-100 could exhibit incomplete penetrance, but was linked

2005 Movement Disorders

3022. RLS, PLM, and their differential diagnosis-A video guide. (Abstract)

RLS, PLM, and their differential diagnosis-A video guide. This video guide has been designed as an introduction to the full spectrum of nocturnal presentations of restless legs syndrome (RLS) and periodic limb movements (PLM), and to their differential diagnoses. The DVD consists of four sections: In the first part, clinical presentations of RLS are covered (videos 1-3). In the second part, the variety of typical and less frequent presentations of PLM are demonstrated (videos 4-14). The third (...) part shows the clinical presentation of augmentation (videos 15-19). The last section is dedicated to the differential diagnosis of RLS and PLM and demonstrates nocturnal manifestations of other motor disorders during sleep, which must be distinguished: Epilepsy, parasomnias, and other movement disorders (of sleep) (videos 20-33). After viewing this DVD, the reader should be able to: (1) appreciate the spectrum of voluntary and unvoluntary movements seen in patients with RLS during wakefulness; (2

2007 Movement Disorders

3023. Assessment of restless legs syndrome-Methodological approaches for use in practice and clinical trials. (Abstract)

activity monitoring by actigraphy) to evaluate sleep and periodic leg movements (including the "suggested immobilization test"); and (5) severity of augmentation (Augmentation Severity Rating Scale, ASRS). It is concluded that several validated methods are available to investigate the main features of RLS in practice and in clinical trials; however, further developments are needed to address new questions like the consequences of RLS on life functioning in areas such as ability to travel, days missed (...) overview on validated methods to assess (1) severity of RLS symptoms [International RLS Rating Scale (IRLS), John Hopkins RLS Severity Scale (JHRLSSS), the RLS-6 scales, and the investigator-based Clincial Global Impressions (CGI)]; (2) quality of life [RLS Quality of Life Instrument (RLS-QLI), Hopkins RLS Quality of Life Questionnaire (RLSQoL), and the RLS Quality of Life Questionnaire (QoL-RLS)]; (3) sleep disturbances and sudden onset of sleep; (4) sleep laboratory methods (polysomnography, limb

2007 Movement Disorders

3024. Performance of locomotion and foot grasping following a unilateral thoracic corticospinal tract lesion in monkeys (Macaca mulatta). Full Text available with Trip Pro

the distal foot musculature, fine foot grasping remained significantly impaired at the end of the testing period. These findings demonstrate that the CST pathway from the brain normally makes an important contribution to interlimb and intralimb coordination during basic locomotion, and to muscle activation to produce dexterous foot digit movements in the monkey. Furthermore, the present study indicates that the primate has the ability to rapidly accommodate locomotor performance, and to a lesser degree (...) a period of 12 weeks after the CST lesion. After 1 week of recovery, all monkeys were able to walk unaided quadrupedally on the treadmill. The animals, however, dragged the hindpaw ipsilateral to the lesion along the treadmill belt during the swing phase and showed a significant reorganization of the spatiotemporal pattern of hindlimb (HL) and forelimb (FL) displacements. The inability to appropriately trigger the swing phase resulted in an increase in the cycle duration and stride length of both HLs

2005 Brain

3025. Effects of peripheral cooling on intention tremor in multiple sclerosis. Full Text available with Trip Pro

Effects of peripheral cooling on intention tremor in multiple sclerosis. To investigate the effect of peripheral sustained cooling on intention tremor in patients with multiple sclerosis (MS). MS induced upper limb intention tremor affects many functional activities and is extremely difficult to treat.Materials/Deep (18 degrees C) and moderate (25 degrees C) cooling interventions were applied for 15 minutes to 23 and 11 tremor arms of patients with MS, respectively. Deep and moderate cooling (...) reduced skin temperature at the elbow by 13.5 degrees C and 7 degrees C, respectively. Evaluations of physiological variables, the finger tapping test, and a wrist step tracking task were performed before and up to 30 minutes after cooling.The heart rate and the central body temperature remained unchanged throughout. Both cooling interventions reduced overall tremor amplitude and frequency proportional to cooling intensity. Tremor reduction persisted during the 30 minute post cooling evaluation period

2005 Neurosurgery and Psychiatry

3026. Physostigmine for the acute treatment of restless legs syndrome. Full Text available with Trip Pro

Physostigmine for the acute treatment of restless legs syndrome. We present a case report of an acute episode of restless legs syndrome that interfered with the performance of a diagnostic imaging procedure of the cervical spine. The patient had a 19-yr history of restless leg syndrome with periodic limb movements during sleep. Treatment with additional sedation and opioids did not alleviate the leg movements. IV administration of 1 mg of physostigmine eradicated all extraneous leg motion.

2005 Anesthesia and Analgesia

3027. Assessment of level-walking aperiodicity Full Text available with Trip Pro

marker clusters were used to represent the movement of the whole body, the upper body (without upper limbs), and the lower body, respectively. Linear and rotational kinetic, and gravitational and elastic potential "energy-like" quantities were used to calculate an index J(t) that described the instantaneous "mechanical state" of the analysed body portion. The variations of J(t) in time allowed for the determination of the walking pseudo-period and for the assessment of gait aperiodicity.The (...) Assessment of level-walking aperiodicity In gait analysis, walking is assumed to be periodic for the sake of simplicity, despite the fact that, strictly speaking, it can only approximate periodicity and, as such, may be referred to as pseudo-periodic. This study aims at: 1) quantifying gait pseudo-periodicity using information concerning a single stride; 2) investigating the effects of walking pathway length on gait periodicity; 3) investigating separately the periodicity of the upper and lower

2006 Journal of neuroengineering and rehabilitation

3028. Locomotor rhythmogenesis in the isolated rat spinal cord: a phase-coupled set of symmetrical flexion–extension oscillators Full Text available with Trip Pro

neonatal cord, an increase in fictive locomotor speed was associated with a decrease in the durations of both extensor and flexor bursts, at cervical and lumbar levels. To determine whether this symmetry in flexor/extensor phase durations derived from the absence of sensory feedback that is normally provided from the limbs during intact animal locomotion, EMG recordings were made from hindlimb-attached spinal cords during drug-induced locomotor-like movements. Under these conditions, the duration (...) Locomotor rhythmogenesis in the isolated rat spinal cord: a phase-coupled set of symmetrical flexion–extension oscillators The temporal properties of limb motoneuron bursting underlying quadrupedal locomotion were investigated in isolated spinal cord preparations (without or with brainstem attached) taken from 0 to 4-day-old rats. When activated either with differing combinations of N-methyl-D,L-aspartate, serotonin and dopamine, or by electrical stimulation of the brainstem, the spinal cord

2007 The Journal of physiology

3029. Activity- and Use-dependent Plasticity of the Developing Corticospinal System Full Text available with Trip Pro

Activity- and Use-dependent Plasticity of the Developing Corticospinal System The corticospinal (CS) system, critical for controlling skilled movements, develops during the late prenatal and early postnatal periods in all species examined. In the cat, there is a sequence of development of the mature pattern of terminations of CS tract axons in the spinal gray matter, followed by motor map development of the primary motor cortex. Skilled limb movements begin to be expressed as the map develops (...) . Development of the proper connections between CS axons and spinal neurons in cats depends on CS neural activity and motor behavioral experience during a critical postnatal period. Reversible CS inactivation or preventing limb use produces an aberrant distribution of CS axon terminations and impairs visually guided movements. This altered pattern of CS connections after inactivation in cats resembles the aberrant pattern of motor responses evoked by transcranial magnetic stimulation in hemiplegic cerebral

2007 Neuroscience and biobehavioral reviews

3030. Stroke Rehabilitation Reaches a Threshold Full Text available with Trip Pro

Stroke Rehabilitation Reaches a Threshold Motor training with the upper limb affected by stroke partially reverses the loss of cortical representation after lesion and has been proposed to increase spontaneous arm use. Moreover, repeated attempts to use the affected hand in daily activities create a form of practice that can potentially lead to further improvement in motor performance. We thus hypothesized that if motor retraining after stroke increases spontaneous arm use sufficiently (...) activity for each movement. The derived learning rule accounts for the reversal of the loss of cortical representation after rehabilitation and the increase of this loss after stroke with insufficient rehabilitation. Further, our model exhibits nonlinear and bistable behavior: if natural recovery, motor training, or both, brings performance above a certain threshold, then training can be stopped, as the repeated spontaneous arm use provides a form of motor learning that further bootstraps performance

2008 PLoS computational biology

3031. Insomnia Full Text available with Trip Pro

, sleepwalking, sleep talking, limb movement disorders, . . Stress Situational stress: Relationships Financial problems Academic stress Job-related stress Medical worries Noise stress Psychiatric comorbidity and . . . . Paranoia and . Medication and substance abuse Alcohol. Caffeine. Recreational drugs. Nicotine. Drug withdrawal - eg, hypnotics, alcohol (reduces the time to onset of sleep, but disrupts it later in the night). Chronic benzodiazepine misuse. Some antidepressants, especially selective serotonin (...) identify sleep trends or predominant sleep patterns. Sleep diaries can be used as a starting point for managing insomnia and for monitoring progress. An example of a sleep diary is available on the American Academy of Sleep Medicine website. [ ] Polysomnography (overnight sleep study): this measures brain and muscle activity and assesses oxygen saturation overnight. It can be used to confirm sleep apnoea and limb movement disorders or restless legs syndrome. Management Treatment is appropriate when

2008 Mentor

3032. Epilepsy in Adults Full Text available with Trip Pro

, which lower the seizure threshold. It is common for seizure frequency to vary throughout the menstrual cycle. In ovulatory cycles, peaks occur around the time of ovulation and in the few days before menstruation. In anovulatory cycles, there is an increase in seizures during the second half of the menstrual cycle. [ ] Possible seizure-related symptoms include: Sudden falls. Involuntary jerky movements of limbs whilst awake. Blank spells. Unexplained incontinence of urine with loss of awareness (...) , or in sleep. Odd events occurring in sleep - eg, fall from bed, jerky movements, automatisms. Episodes of confused behaviour with impaired awareness. Possible simple focal seizures. Epigastric fullness sensation. Déjà vu. Premonition. Fear. Elation, depression. Depersonalisation, derealisation. Inability to understand or express language (written or spoken). Loss of memory, disorientation. Olfactory, gustatory, visual, auditory hallucinations. Focal motor or somatosensory deficit, or positive symptoms

2008 Mentor

3033. Enteropathic Arthropathies

, less frequently, with other rheumatic disease such as rheumatoid arthritis, Sjögren's syndrome, Takayasu's arteritis and fibromyalgia. The joint involvement observed in IBD is usually classified into axial (including sacroiliitis with or without spondylitis) and peripheral. Axial involvement is found to be present in 2-16% of patients with IBD. Peripheral joint involvement has been reported in a wide range (0.4-34.6%) of patients with IBD. It predominantly affects the joints of the lower limbs (...) before, simultaneously or after the diagnosis of IBD. Symptoms Axial arthritis (spondylitis and sacroiliitis) associated with IBD : The condition may precede any GI symptoms and be active despite good control of bowel disease. There is a gradual onset of low back pain radiating down the back of the legs. Symptoms tend to be worse in the morning. Prolonged sitting or standing can bring the symptoms on. Moderate movement tends to improve the symptoms. The arthritis tends to be chronic and long-standing

2008 Mentor

3034. Gait Abnormalities in Children

as the leg swings forwards Typically seen with a leg length discrepancy, with a stiff/restricted joint movement as in JIA, or with unilateral spasticity as in hemiplegic . Spastic gait Stiff, foot-dragging with foot inversion. This is often seen in upper motor neurone neurological disease (eg, diplegic or quadriplegic cerebral palsy, ). Ataxic gait Instability with an alternating narrow-to-wide base. Seen in ataxic cerebral palsy affecting the cerebellum, in , and in . Trendelenberg's gait Results from (...) with absent heel contact Habitual toe walking is common in children and associates with normal tone, range of movement around the feet and normal walking on request. However, persistent toe walking is observed in spastic upper motor neurone neurological disease (eg, cerebral palsy). It can (rarely) be a presentation of mild lysosomal storage disorder. Stepping gait The entire leg is lifted at the hip to assist with ground clearance. Occurs with weak ankle dorsiflexors, compensated by increased knee

2008 Mentor

3035. Diving Accidents

hours later. Pain is often dull, poorly localised, of gradual onset and not exacerbated by movement of the joint. Untreated pain will reduce and disappear over 2 or 3 days with rapid improvement on recompression. Neurological symptoms may also occur. There is usually sensory disturbance with numbness and paraesthesia but no clear dermatomal or peripheral nerve distribution. In its severe form, it starts with girdle pain with loss of sensation and movement in lower limbs. Cerebral involvement (...) the density of inhaled gas increases as pressure increases, breathing can be restricted. Lung volume is also reduced because of displacement of blood from the periphery to the thorax. Diving accidents The British Sub Aqua Club reported 364 diving incidents in 2010, including 98 decompression incidents and 17 fatalities. [ ] The Health and Safety Executive reported 24 fatal accidents in the 8-year period from 1996/97 to 2003/04, many amongst people receiving recreational diving training by instructors

2008 Mentor

3036. Flying with Medical Conditions

. Trauma or surgery of the lower limbs. Family history of DVT. Age >40 years. The oral contraceptive pill. The risk of flight-related VTE is also increased in both shorter and taller individuals and in the overweight and is associated with location in a window seat [ ] . DVT prophylaxis It is wise for anyone undertaking a long-haul flight to take sensible precautions, such as to: Remain adequately hydrated. Exercise the calves. Spend periods out of their seat. Avoid excess alcohol. Avoid tight-fitting (...) below. Physiology during flight [ ] Modern aircraft are not pressurised to sea level equivalent. Cabin altitude equivalent is usually between 5,000 and 8,000 feet which means that there is a reduction in barometric pressure and a reduction in the partial pressure of alveolar oxygen (P a O 2 ). Sometimes during flight, although not usually for long periods, oxygen saturation levels can fall to around 90%. A healthy individual can usually tolerate this with no problems but it may not be the same

2008 Mentor

3037. Compartment Syndromes

be relatively minor. Intense exercise can also cause acute compartment syndrome. Acute compartment syndrome requires prompt diagnosis and urgent treatment. Chronic compartment syndrome is usually caused by exercise and presents with recurrent pain and disability, which subside when the cause (usually running) is stopped but return when the activity is resumed. Sites affected Compartment syndrome can occur wherever a compartment is present. Therefore, although the upper and lower limbs are most commonly (...) affected, other sites may be affected, particularly the abdomen and gluteal regions: Forearm compartments and structures at risk: Ventral compartment: median and ulnar nerves; radial and ulnar arteries. Dorsal compartment: posterior interosseous nerve; no major vessels. Lower limb and structures at risk: Anterior tibial compartment: deep peroneal nerve, anterior tibial artery. Superficial posterior compartment: no major nerves or vessels. Deep posterior compartment: posterior tibial nerves and vessels

2008 Mentor

3038. Developmental Dysplasia of the Hip Full Text available with Trip Pro

skin folds. Limb length discrepancy (see Galeazzi sign below). Limitation and asymmetry of hip abduction when the hip is flexed to 90°. The Ortolani and Barlow tests are the most common clinical tests for newborn babies: In the Ortolani test (screen for a dislocated hip), the examiner applies gentle forward pressure to each femoral head in turn, in an attempt to move a posteriorly dislocated femoral head forwards into the acetabulum. Palpable movement suggests that the hip is dislocated or subluxed (...) ; there is a 7-fold increase for breech babies delivered by elective caesarean section [ ] . Restriction of movement as with oligohydramnios increases the risk. The risk is also increased in multiple pregnancy and prematurity. It is more common with neuromuscular disorders, such as cerebral palsy, meningomyelocele and arthrogryposis. Those presenting with late DDH (presenting after 3 months of age) have fewer of the above risk factors: they are more likely to have been a cephalic delivery and more likely

2008 Mentor

3039. Delay In Walking

? Talipes or inversion of the foot can suggest imbalance of muscle tone and neurological abnormality. Examination is largely neurological and should be thorough. Look for strength, asymmetry of movement and the presence of primitive reflexes. Note particularly: Muscle tone. Passively flex and extend the limbs and pick up the child to assess muscle tone and control. Is there any asymmetry between sides? Does the head flop on being lifted? Do tone and muscle control feel normal for a baby of this age (...) motor skills but this is rare. However, a similar process can be seen in children who have been ill and bed-bound for long periods of time. Emotional deprivation doesn't tend to affect these skills as much as others. has been reported to delay walking; this is reversible if the disease is not too advanced. [ ] It is worth noting that obesity and are not causes of delayed walking. [ ] The issue surrounding baby walkers is not entirely clear but they are unlikely to cause significant harm. Two

2008 Mentor

3040. Hyaluronates and Viscosupplementation

. Reduced function and participation restriction. Signs Reduced range of joint movement. Pain on movement of the joint or at extremes of joint movement. Joint swelling/synovitis (warmth, effusion, synovial thickening). Periarticular tenderness. Crepitus. Absence of systemic features such as fever or rash. Bony swelling and deformity due to osteophytes - in the fingers this presents as swelling at the distal interphalangeal joints (Heberden's nodes) or swelling at the proximal interphalangeal joints (...) on their joints and help to improve pain. The use of local heat or cold (thermotherapy) should be considered as an adjunct to core treatments. Aids and devices: Advice on appropriate footwear (including shock-absorbing properties) as part of core treatments for people with lower-limb OA. Biomechanical joint pain or instability: should be considered for assessment for bracing/joint supports/insoles as an adjunct to their core treatments. Assistive devices (eg, walking sticks and tap turners) should

2008 Mentor

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