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1/13. gait analysis in myelomeningocele: possibilities and applications.

    gait analysis with a fully integrated laboratory is a relatively new instrument in the armamentarium of the pediatric orthopedic surgeon. The introduction of it has been especially successful in neuromuscular pathology and, particularly, in cerebral palsy. In spina bifida, however, it also enhances substantially the possibilities of detailed analysis of the locomotion problem. It is, furthermore, a very useful instrument in evaluating treatment and in follow-up. With a few examples, this paper tries to show the possibilities and advantages of a gait laboratory in the evaluation of patients with ambulatory spina bifida.
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ranking = 1
keywords = palsy
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2/13. myasthenia gravis presenting as a unilateral abducens nerve palsy.

    A 48-year-old man with no significant medical history presented to the emergency department of a large, urban, tertiary-care hospital complaining of double vision and unsteady gait. physical examination was remarkable for an isolated, unilateral sixth nerve palsy. After comprehensive testing, a final diagnosis of myasthenia gravis was made. The patient's unsteady gait was a manifestation of sensory distortion from the diplopia and corrected when the patient closed his eyes. The presentation of myasthenia gravis as an isolated sixth nerve palsy is unprecedented in the emergency medicine literature.
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ranking = 6
keywords = palsy
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3/13. Correlation between physical functioning and gait measures in children with cerebral palsy.

    The primary aim of this investigation was to assess the correlation between the POSNA Musculoskeletal Functional health Questionnaire (POSNA) and gait analysis in children with cerebral palsy (CP). POSNA and computerized gait analysis were used to evaluate individuals with CP. Correlations were investigated between POSNA scales, gait parameters, and the Gillette Functional Assessment Questionnaire (FAQ) in 63 children (31 males, 32 females; mean age 9.17 years [SD 3.06], age range 3.75 to 16.44 years) with spastic CP. Twelve participants had hemiplegia, 29 diplegia, 12 quadriplegia, and 10 triplegia. The result of backwards stepwise multiple regression analysis indicated that the Log normalcy index (NI) was a significant predictor of the POSNA Global Function and Comfort scale. Energy expenditure (EE) did not add significantly to the prediction. The POSNA scales differentiated between the different topographical types of CP. The POSNA scale is a valid and useful clinical measure. Used in conjunction with the NI, EE, and FAQ, the POSNA scale provides a more complete appraisal of change in functioning.
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ranking = 5
keywords = palsy
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4/13. A child with miller fisher syndrome.

    We describe the case of a six-year-old girl who presented with a 3-day history of diplopia and gait disturbance following a febrile flu-like illness. On examination she was found to have ataxia, areflexia and ophthalmoplegia, and a diagnosis of miller fisher syndrome was made after the exclusion of other conditions. This report outlines the frequency of miller fisher syndrome and lists the differential diagnoses that should be considered in australia. In addition, the occurrence of pupillary dysfunction is discussed.
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ranking = 8.2837208673628
keywords = ophthalmoplegia
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5/13. Niemann-Pick disease type C in adults.

    Although it is often perceived as a paediatric disorder, significant numbers of patients with Niemann-Pick disease type C present for the first time in adult life or survive into adult life. The presentation in these patients differs from that seen in the classical juvenile form of the disease. adult patients are often referred to clinicians with psychosis or other major psychiatric problems. The dystonia with preserved intellectual functioning can be mistaken for other basal ganglia disorders such as Wilson disease. The presence of vertical gaze palsy is an important clinical clue and, in the presence of a modest increase in plasma chitotriosidase activity, can be very helpful in the differential diagnosis. The diagnosis should be confirmed in suspected cases by filipin staining of cultured fibroblasts, as well as cholesterol esterification studies and dna mutation analysis.
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ranking = 1
keywords = palsy
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6/13. Direct effect of percutaneous electric stimulation during gait in children with hemiplegic cerebral palsy: a report of 2 cases.

    The feasibility of using percutaneous intramuscular functional electric stimulation (FES) in children with cerebral palsy (CP) as a method to improve ankle kinematics and kinetics during gait was investigated. Two children with right hemiplegic CP had percutaneous intramuscular electrodes implanted into the gastrocnemius and tibialis anterior muscles of the involved limb. FES was provided during the gait cycle using force-sensing foot switches to detect gait phase transitions. The children ambulated using FES under 3 conditions (gastrocnemius on, tibialis anterior on, gastrocnemius and tibialis anterior on). For each condition, two 45-minute walking sessions were conducted per day for 1 week. Immediately after each week of practice, a gait analysis was performed at the subject's self-selected walking speed for that stimulation condition and without stimulation. Both children demonstrated improvements in ankle dorsiflexion angle at initial contact, peak dorsiflexion during swing, mean dorsiflexion during swing, and ankle work during early stance with tibialis anterior stimulation alone and combined gastrocnemius and tibialis anterior stimulation. Improvements in ankle work were found during late stance for both children with all stimulation conditions. These results suggest that percutaneous intramuscular FES was effective in improving aspects of ankle kinematics and kinetics of 2 children with hemiplegic CP.
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ranking = 5
keywords = palsy
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7/13. gait control in spinal palsy.

    Developmental motor impairment with lower limb spasticity most commonly corresponds to cerebral palsy of the spastic diplegia type. Here we describe a 4-year-old girl whose locomotor phenotype reflects early cortico-spinal lesion at the spinal level. This child has developmental spastic paraparesis secondary to D4-D8 cord compression. We analysed her gait using the ELITE optoelectronic system and compared it to that of six normal age-matched controls and six age-matched children with leucomalacic spastic diplegia. gait characteristics of the patient included preservation of head orientation and arm swing similar to findings in normal controls and contrasting with children with spastic diplegia. She also had truncal instability and displayed lack of selectivity in lower limb movement as in spastic diplegia and in contrast with normal controls. This may reflect differences in locomotor control between developmental spasticity of cerebral and spinal origin. The latter might correspond to spinal palsy defined as abnormal movement and posture secondary to non-progressive pathological processes affecting the immature spinal cord.
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ranking = 6
keywords = palsy
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8/13. Comparison of percutaneous and surface functional electrical stimulation during gait in a child with hemiplegic cerebral palsy.

    The purpose of this brief report was to compare the immediate effects of surface functional electrical stimulation (S-FES) and percutaneous functional electrical stimulation (P-FES) of the tibialis anterior applied during gait in a child with hemiplegic cerebral palsy. A three-dimensional gait analysis was conducted while an 11-yr-old girl with right hemiplegia walked with S-FES, P-FES, and no stimulation. The results indicated that both P-FES and S-FES increased dorsiflexion at initial contact, peak dorsiflexion in swing, and mean dorsiflexion in swing compared with walking without stimulation. The increase in dorsiflexion was greater with P-FES as compared with S-FES. ankle absorption work was improved with both types of stimulation, whereas ankle generation work increased only with P-FES. This report suggests that S-FES and P-FES may have different immediate effects on gait due to issues such as muscle contraction strength, sensory feedback, and control systems for stimulation.
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ranking = 5
keywords = palsy
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9/13. Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.

    The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). The mutation was not identified in parents' blood, hair follicles, buccal mucosa, or urinary epithelium, indicating germ line mosaicism. One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.
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ranking = 8.2837208673628
keywords = ophthalmoplegia
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10/13. Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology.

    A 30-year-old white man presented with a sporadic form of gradually progressive spastic gait and, later, supranuclear vertical and horizontal gaze palsy, mild cognitive impairment, loss of postural reflexes, and falls. dna analysis revealed H1/H1 haplotype without tau gene (exons 9 to 13) mutation. Eight years later, postmortem revealed a tauopathy similar to progressive supranuclear palsy. Unusual aspects were early age at onset, neurofibrillary tangle, and tau involvement of the cord.
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ranking = 2704.7348866777
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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