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Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Dominantly inherited GTPCH deficiency, Segawa disease, is also known as DOPA-responsive dystonia. Penetrance is reduced, with the frequency of symptoms being 3-fold to 4-fold higher in females as compared to males [38]. The disease manifests classically with difficulty walking as a result of postural dystonia of one leg, usually within the first decade of life, with the mean age of onset of symptoms being about seven years (range 16 months to 13 years) [39]. Within the next 10–15 years dystonia progresses to all limbs, followed by action dystonia and hand tremor, during which time cognition remains intact. Occasionally, in older children, the first signs may start in the arms or be torticollis or writer's cramp (focal dystonia). The dystonia is frequently asymmetrical. Diurnal fluctuation is normally present, with symptoms improving after nighttime sleep or bed rest. The variation in presenting symptoms is, however, large and may include minor muscle cramps, an early nonprogressive course, delayed attainment of motor milestones, or spastic diplegia [38]. Twenty percent of patients also have hyperreflexia and apparent extensor plantar responses (so-called “striatal toes”) mimicking spasticity. There may be parkinsonian features involving reduced facial expression and slowed movements of fingers [40]. Abnormal sleep includes sleeping and nightmares.
Brain Injury and Infant Cardiac Surgery: Overview
Published in Richard A. Jonas, Jane W. Newburger, Joseph J. Volpe, John W. Kirklin, Brain Injury and Pediatric Cardiac Surgery, 2019
The neurological features of this lesion, i.e., particularly spastic diplegia, relate to the topography of the injury.18,19 Thus, in spastic diplegia, the lower extremity is involved more than the upper extremity. Because of the focal necrosis in the periventricular white matter, the motor fibers emanating from the cerebral cortex and subserving lower extremity function are preferentially affected. Fibers subserving the function of upper extremities course more laterally and thus are less likely to be injured or are injured less. However, because there is also more diffuse injury to cerebral white matter, association fibers are affected, and this involvement may account for at least some of the cognitive deficits that one sees on follow-up in affected infants.
Infectious Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Vas Novelli, Delane Shingadia, Huda Al-Ansari
A common early sign is the development of spastic diplegia. There may also be failure to achieve developmental milestones, and in the latter part of the disease, developmental regression and seizures may occur. Opportunistic infections of the CNS, common in adults, need to be excluded. CT scan findings may show cerebral atrophy (Fig. 3.29) or basal ganglia enhancement/calcification. Treatment with HAART may lead to some improvement, with reversal of the cognitive and neurological deficits. Without any treatment, the prognosis is bleak (median survival is 11 months).
Unusual gait disorders: a phenomenological approach and classification
Published in Expert Review of Neurotherapeutics, 2019
Vijayashankar Paramanandam, Karlo J. Lizarraga, Derrick Soh, Musleh Algarni, Mohammad Rohani, Alfonso Fasano
Besides ‘scissoring’, further characteristics of the ‘spastic diplegic gait’ pattern have been described. ‘Crouch gait’ or ‘flexed-knee gait’ is one of the earliest gait patterns described in these patients and is characterized by excessive knee flexion during stance (Figure (1b)) [11]. The gait of patients with spastic diplegia usually evolves as the child grows due to the combination of weakness, worsening spasticity with subsequent contractures and orthopedic deformities. Sutherland and Davids [12] described four typical abnormalities of gait affecting the knees in children with spastic diplegia: ‘jump knee’, ‘crouch knee’, ‘stiff knee’ and ‘recurvatum knee’. Based on gait kinematics of 187 patients, Rodda and Graham [13] subsequently classified spastic diplegic gait into 5 subtypes: ‘true equinus’, ‘crouch gait’, ‘apparent equinus’, ‘jump gait’, and ‘asymmetrical gait’. Their classification did not include ‘stiff knee’ and ‘recurvatum knee’ because it was felt to be the result of hamstring surgery. Calf surgery, on the other hand, can play a role in transforming the gait subtype from either ‘true equinus’ or ‘jump gait’ to ‘crouch gait’ or ‘apparent equinus’ [14].
Effects of Kinect Video Game Training on Lower Extremity Motor Function, Balance, and Gait in Adolescents with Spastic Diplegia Cerebral Palsy: A Pilot Randomized Controlled Trial
Published in Developmental Neurorehabilitation, 2021
SunHye Jung, SunHae Song, DongGeon Lee, Kyeongbong Lee, GyuChang Lee
Approximately 70%–80% of patients with cerebral palsy (CP) present with spastic diplegia and limited perceptual neuromotor control, which result in difficulty in modifying postures by predicting situations.1,2 The therapeutic approach that is effective for the rehabilitation of patients with spastic diplegia CP emphasizes learning and movement control involving the repetition and mastery of various movements by focusing on neurodevelopmental treatment.3,4 However, in the treatment of adolescents with spastic diplegia CP, this approach reduces therapeutic participation and motivation because of exercise monotony and the simplification of task settings, thereby limiting the therapeutic effect.5,6
Goal-oriented locomotion in children with spastic diplegia: Anticipatory orienting strategies and trajectory formation
Published in Developmental Neurorehabilitation, 2022
Alexander Castilla, Alain Berthoz, Giovanni Cioni, Vittorio Belmonti
In this limited number of subjects, our findings support the modeling of goal-oriented locomotion as an intrinsically double motor control task: navigation, on one hand, and gait control on the other. Either component can be primarily accomplished by means of feedback or feed-forward mechanisms, with the latter progressively integrating the former throughout development. In typical development, feed-forward control seems to take care of gait first and only afterward of navigation. In spastic diplegia, this ontogenetic course might be altered by numerous disorders, especially lower-limb spasticity and musculoskeletal problems. Navigation, in its turn, might develop normally or not, depending on top-down factors.