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[Jaw and dental abnormalities in children with cerebral movement disorders].

The dentitions of 146 children with cerebral palsy showed a high incidence of gnathic anomalies. There was, however, no relation between these anomalies and the severity of the neuropathological findings. Also the total number of anomalies was almost evenly distributed among the various clinical pictures such as spasticity, athetosis, ataxia. Although combinations of the individual anomalies were found most frequently, marked protrusions of the upper jaw were particularly impressive with 55%, and were followed by class II malformations (47%). In addition, almost every third tested child had an open bite.

Ataxia↗

Melbourne Assessment of Unilateral Upper Limb Function: construct validity and correlation with the Pediatric Evaluation of Disability Inventory.

The Melbourne Assessment of Unilateral Upper Limb Function (Melbourne Assessment) is an evaluation tool that objectively measures upper-extremity function in children with cerebral palsy (CP). This study investigates how well performance on the Melbourne Assessment relates to the child's actual performance in functional tasks. Eighteen children with CP (5 to 14 years of age; nine males, nine females) were assessed using the Melbourne Assessment and the Pediatric Evaluation of Disability Inventory (PEDI). Five children had spastic quadriplegia, eight had spastic diplegia, two had spastic hemiplegia and diplegia, two had athetosis, and one had hypotonic quadriplegia with mobile ventilator dependence. Children's performances were statistically correlated using Spearman's rho to establish the relation between these tools. Very high correlation coefficients were calculated between the Melbourne Assessment and self-care (0.939) and mobility domains (0.783) of the PEDI and the overall functional skills section of the PEDI (0.718). The Melbourne Assessment demonstrates excellent construct validity for upper limb functioning.

Activities of Daily Living↗

A physiological approach to motor disorders.

Spasticity in man is presented as a disinhibition of spinal cord mechanisms, the responses to stretch depending on the interaction of the reflex effects of group Ia with those of group II afferent fibres. The reflex responses to muscle stretch and shortening in Parkinson's disease do not depend on an abnormality of spinal reflex mechanisms. The superimposition of physiological tremor or alternating tremor in rigidity produces the classical cog-wheel sensation. The phase lead of the action tonic stretch reflex was found to be reduced in patients with athetosis and cerebellar disease, thus diminishing damping of unwanted movements. The more complex transmission characteristics of the action tonic stretch reflex of normal man are absent in patients with spasticity and cerebellar lesions, presumably due to interference with long-loop pathways. In normal subjects gain of the reflex loop increases with voluntary contraction but in spasticity gain remains high irrespective of contraction level.

Athetosis↗

Drooling, chewing and swallowing dysfunctions in children with cerebral palsy: treatment according to Castillo-Morales.

About 23 percent of the sixty-eight children with cerebral palsy, studied at the Werner-Otto-Institute's Pediatric Rehabilitation Center, suffered from a spastic tetraparesis. About 19 percent suffered from an athetosis; about 20 percent from a hypotonia, including three with cerebellar ataxia. The remainder of the group had minimal sequelae of cerebral palsy; mental problems were predominant. Their orofacial dysfunctions were treated according to the therapeutic concepts of Castillo-Morales.

Activator Appliances↗

[Use of the microelectrode method for differentiation of white matter from thalamic nuclei during stereotaxic procedures].

Two hundred and three neurograms were recorded from the ventrolateral and reticular nuclei of the thalamus in 29 patients. Pulsed neuron activity was encountered in 116 cases. Reactions to motor tests were recorded from 26 neurons. The authors constructed maps of the location of the cerebral areas studied in relation to the main intracerebral guiding points. A large number of cells (44%) with rhythmic pulsed discharges with a frequency of 3-7 Hz were found in patients with parkinsonism and double athetosis. A great variability of background and induced activity of the thalamic nuclei under similar conditions of study was revealed.

Athetosis↗

[Rhythmic background activity of the thalamic neurons of patients with extrapyramidal movement disorders].

When applying the microelectrode method in neurosurgical clinic to differentiate white matter and thalamic nuclei the background activity of 123 thalamic neurons has been registered in 30 patients with motor extrapyramidal disorders. The recordings were performed from ventral oral anterior, ventral oral posterior and adjacent reticular thalamic nuclei. Autocorrelation functions and spectral density functions for the activity of 44 cells were analyzed. In patients with parkinsonism and double athetosis a number of cells (48%) with rhythmic activity were revealed. Regular fluctuations of background neuronal discharges with different frequencies were observed: in the range of thetha-rhythm (5-7 Hz), deltha-rhythm (1-4 Hz), with second (2-10 s) and decasecond (15-40 s) periods. The possibility of simultaneous presence of several regular periodic processes was established: in 8 neurons 2 or 3 waves of acceleration and slowing down of spike discharges have occurred. The question is discussed about the origin and the significance of rhythmic fluctuations of thalamic neuronal discharges.

Athetosis↗

[Motor goals of therapeutic horseback riding for cerebral palsied children (author's transl)].

The article reviews in a critical survey the current opinions on the possibilities of improving the motor functions of cerebral palsied children with the help of riding therapy. Furthermore, the essential motor difficulties with spasm, athetosis and ataxia are described. It is demonstrated that only a small number of these typical difficulties can be tackled by means of riding therapy and that some key problems, particularly encountered by the spastics, cannot be solved. If, despite these facts, the favourable effects of riding on the cerebral palsied cannot be denied, then this must be attributed, first of all, to the unique psychological motivation derived from riding. Credit is given to the effects on the autonomic nervous system, the psyche, the world of experience and the behaviour.

Animals↗

Heterogeneity in gingival fibromatosis.

A review of cases indicated that gingival fibromatosis occurs in a variety of genetic entities. High risk for epilepsy and oligophrenia is associated if hypertrichosis is present. Other entities are symmetrical gingival fibromatosis; Zimmermann-Laband syndrome with bone, ear, nose and nail defects and hepatosplenomegaly; Murray syndrome with multiple hyaline dermal tumors; Rutherfurd syndrome with corneal dystrophy; Cowden syndrome with hypertrichosis, oligophrenia and giant fibroadenomatosis of breasts and Cross syndrome of hypopigmentation, oligophrenia and athetosis.

Abnormalities, Multiple↗

[Movement disorders and AIDS].

We describe the clinical characteristics, causes and response to treatment in 6 patients with AIDS who presented with abnormal movement disorders between January 1987 and July 1993 in our hospital, 3 with hemiballismus-hemichorea, 1 with athetosis, 1 myoclonia and 1 with "rubric" tremor. Brain imaging showed lesions in the corpus striatum in all the patients. Suspected diagnoses were cerebral toxoplasmosis in 4, cerebral lymphoma in 1 and progressive multifocal leukoencephalopathy in 1. The toxoplasmosis patients showed improvement (2 cases) or disappearance (2 cases) of movements with antiparasitic therapy. Treatment provided no benefit to the patients with leukoencephalopathy and lymphoma. Hemiballismus-hemichorea was the most common movement disorder in AIDS patients. The underlying cause is usually lesions in the basal ganglia arising from toxoplasmosis. If the lesions are so caused, movements may improve with antiparasitic therapy.

Acquired Immunodeficiency Syndrome↗

Diagnosis and management of tremor.

Tremor is the most common involuntary movement disorder. It is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballismus, tics, and myoclonus, by its repetitive, stereotyped, movements of a regular amplitude and frequency. Tremor can be defined as an involuntary, rhythmic, periodic, mechanical oscillation of a body part. Since small-amplitude tremors may not be visible to the naked eye and may only be detectable by sensitive recording devices, amplitude of the tremor is therefore not critical to the definition. Accurate diagnosis of tremor is important because appropriate treatment depends on the accuracy of the clinical diagnosis. This article reviews the classification and management of tremor.

Humans↗

Evaluation of cerebral biopsies for the diagnosis of dementia.

To identify those patients most likely to benefit from a cerebral biopsy to diagnose dementia, we reviewed a series of 14 unselected biopsies performed during a 9-year period (1980 through 1989) at Duke University Medical Center, Durham, NC. Pathognomonic features allowed a definitive diagnosis in seven specimens. Nondiagnostic abnormalities but not diagnostic neuropathologic changes were seen in five additional specimens, and two specimens were normal. Creutzfeldt-Jakob disease was the most frequent diagnosis. One patient each was diagnosed as having Alzheimer's disease, diffuse Lewy body disease, adult-onset Niemann-Pick disease, and anaplastic astrocytoma. We conclude that a substantial proportion of patients presenting clinically with atypical dementia are likely to receive a definitive diagnosis from a cerebral biopsy. However, in those with coexisting hemiparesis, chorea, athetosis, or lower motor neuron signs, cerebral biopsies are less likely to be diagnostic.

Adult↗

Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes.

In this paper, we provide a brief update of diagnostic considerations and biochemical phenotype in L-amino acid decarboxylase deficiency. We review clinical features and outcome data in 11 affected patients, including 7 previously unreported cases. All had onset of the characteristic movement disorder by 6 months of age. The phenomenology of the movement disorder is identical to that previously reported, and includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement in all patients. Autonomic dysfunction is characterized by a significant impairment of sympathetic regulation of heart rate and blood pressure, as documented via detailed studies with spectral analysis techniques in two patients. Functional clinical outcomes as a group remain poor, in spite of a variety of attempted treatment interventions, with marked impairment in motor abilities as well as in speech and communication; however, outcome was quite variable from patient to patient and covered a broad spectrum of neurological disability. Much further work remains to identify and refine the best treatment options for patients with L-amino acid decarboxylase deficiency.

Age of Onset↗

Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry.

Clinical features in bilateral striopallidodentate calcinosis (BSPDC), popularly referred to as Fahr's disease (five autosomal dominant families and eight sporadic cases, n = 38), recruited through a registry, are reported. Applying uniform criteria, cases reported in the literature (n = 61) were combined for detailed analysis. The mean (+/- S.D.) age of Registry patients was 43 +/- 21 and that of literature was 38 +/- 17. In combined data set (n = 99), 67 were symptomatic and 32 were asymptomatic. Of the symptomatic, the incidence among men was higher compared with women (45:22). Movement disorders accounted for 55% of the total symptomatic patients. Of the movement disorders, parkinsonism accounted for 57%, chorea 19%, tremor 8%, dystonia 8%, athetosis 5%, and orofacial dyskinesia 3%. Overlap of signs referable to different areas of central nervous system (CNS) was common. Other neurologic manifestations included: cognitive impairment, cerebellar signs, speech disorder, pyramidal signs, psychiatric features, gait disorders, sensory changes, and pain. We measured the total volume of calcification using an Electronic Planimeter and Coordinate Digitizer. Results suggest a significantly greater amount of calcification in symptomatic patients compared to asymptomatic patients. This study suggests that movement disorders are the most common manifestations of BSPDC, and among movement disorders, parkinsonism outnumber others.

Adult↗

Rating scale for psychogenic movement disorders: scale development and clinimetric testing.

We developed and tested the clinimetric properties of a scale for psychogenic movement disorders (PMDs). PMDs are disabling but lack any generally accepted treatment strategies. To develop treatments, means of assessing disease severity must be provided. No scale to assess PMDs existed. The PMD scale developed here rates 10 phenomena (rest tremor, action tremor, dystonia, chorea, bradykinesia, myoclonus, tics, athetosis, ballism, cerebellar incoordination), 2 functions (gait, speech), and 14 body regions. To study interrater agreement, three movement disorder neurologists independently rated 88 videotapes of PMD patients. Data analysis was performed using a kappa coefficient of agreement, Kendall's coefficient of concordance, Spearman correlations, and intraclass correlation coefficients. Validity and scale responsiveness were tested as well. All phenomena and speech and gait dysfunction occurred in the patient sample. A wide range of affected body regions, severity, and incapacitation was captured. Ratings showed excellent interrater reliability for presence or absence of each phenomenon (kappa range, 0.63 to 0.86). Kendall's concordance coefficients for phenomenology, function, and total PMD scores were 0.92, 0.93, and 0.91. Spearman correlations between raters ranged from 0.86 to 0.90. The scale was responsive to changes that occurred as a result of a neuropsychiatric intervention. The PMD scale adequately captures the complex movements of PMDs and can be used to assess PMDs and test the efficacy of intervention strategies.

Adolescent↗

Neurological manifestations in Wilson's disease: Report of 119 cases.

We describe the neurological manifestations of 119 patients with WD (93 index cases and 26 affected family members) seen between 1963 and 2004. The mean age at symptoms onset was 19.6 years (range, 7-37 years). Medical records were reviewed for the patient's first neurological examination. The most frequent neurological manifestations observed were dysarthria (91%), gait disturbance (75%), risus sardonicus (72%), dystonia (69%), rigidity (66%), tremor (60%), and dysphagia (50%). Less frequent manifestations were chorea (16%) and athetosis (14%). Rare neurological presentations were seizures (4.2%), and pyramidal signs (3%).

Adolescent↗

Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family.

We describe the first Danish family with dentatorubral-pallidoluysian atrophy (DRPLA), containing 16 clinically affected individuals in five generations. Inheritance is autosomal dominant. The disorder was diagnosed as Huntington's disease (HD), but analysis of the IT15 gene for HD revealed normal alleles. The diagnosis of DRPLA was based on the finding of elongated CAG repeats in the B37 gene on chromosome 12 in affected individuals. The age at onset ranged from 13 to 60 years, with the most severe clinical picture being associated with onset in childhood. Clinical features included varying combinations of dementia, euphoria, visuomotor disturbances, speech problems, ataxia, tremor, epilepsy and involuntary movements presenting as chorea, athetosis, and dystonia. We discuss characteristics of DRPLA that may enable the differentiation from HD on a clinical basis. In conclusion, DRPLA should be considered and DNA analysis is recommended in patients manifesting varying combinations of extrapyramidal and cerebellar symptoms, especially when clinical features show pronounced intrafamilial variability, and dyscoordination, tremor, myoclonus, epilepsy, and euphoria are part of the syndrome.

Adult↗

Partial selective denervation in spastic palsies (hyponeurotization).

Treating spastic palsies is a difficult problem. Hyponeurotization is a technique in which peripheral nerves are partially and selectively denervated to diminish spasm in muscles, hence reducing spasticity and tenseness so inimical to movement. Hyponeurotization can be performed in all spastic patients who are capable of cooperating. It should be avoided in cases of athetosis and brain impairment. Partial denervation is employed to reduce spasm; tenotomies, tendon lengthening, and myoectomy are employed to increase length in retracted muscles. Secondary surgery is usually required to further correct the spasm after the "adoption" phenomenon is complete. The results with hyponeurotization have been good in a high percentage of cases in which the surgery strictly adhered to basic principles.

Humans↗

Control of post-stroke movement disorders using chronic motor cortex stimulation.

The effects of motor cortex (MC) stimulation on post-stroke movement disorders were analyzed in 50 patients. These individuals either underwent MC stimulation primarily for the purpose of controlling their post-stroke involuntary movements (n = 8) or underwent MC stimulation for the purpose of controlling their post-stroke central pain (n = 42). In the latter patients, the effects of MC stimulation on co-existent involuntary or voluntary movement disorders were analyzed retrospectively. Good control of involuntary movements was observed in 2 of 3 patients with hemichoreo-athetosis, 2 of 2 patients with distal resting or action tremor, and 1 of 3 patients with proximal postural tremor. Subjective improvements in motor performance were reported by 8 patients who had mild motor weakness, and the effects appeared to be attributable to attenuation of rigidity. We consider that these findings justify further clinical studies on MC stimulation for the control of post-stroke movement disorders.

Electric Stimulation Therapy↗