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Glutaric aciduria type I (GA-I) is an inherited metabolic disorder that may lead to severe motor disorder and cognitive impairment. GA-I is now included in the newborn screening programme in many countries as early detection allows for prompt treatment and effectively reduces the risk of poor developmental outcome. Information regarding the long-term neurodevelopmental outcome of children with GA-I treated early is sparse.We recruited children with a confirmed diagnosis of GA-I diagnosed via newborn screening, treated in our centre and3 years of age (n = 6). Children were assessed at two time points using a comprehensive neuropsychological test battery. Four of these had been the subject of a previous report. All participants were male, 3-6 years at the initial assessment and 6-12 years of age at the follow-up assessment.Fine motor skills were below average in all patients. Speech, which was affected in all four patients reported previously, improved following speech therapy. IQ scores remained generally stable within the normal range. Executive functioning was average to high average in four patients. Behaviour, as assessed through parental questionnaires, was problematic in two patients. Compounding factors included child neglect, family history of autism and multiple admissions to hospital (n = 1 in each).GA-I affects fine motor skills and speech, regardless of early treatment, but not IQ scores. Patients with GA-I should be referred for assessment and appropriate early intervention. Further research is needed to correlate specific neuropsychological deficits with neuroimaging.

Cerebral palsy (CP) is the most common developmental motor disorder in children characterized by atypical or abnormal muscle tone, weakness, and reduced selective motor control. This results in abnormal movements and postures. Augmented therapeutic modalities to train selective motor control are needed in CP rehabilitation. We investigated motor learning in children with CP (n=9, ages 8-12, GMFCS =I,II) by providing feedback in a virtual reality (VR) environment of reduced dimensions consisting only of the first two principal components (PCs) of the space of target postures from a group of typically developing children (n=8, ages 8-12). After six training sessions we observed the following changes in the children’s motor control: a) increased variance in the first principal component; b) reduced variance in the non- relevant principal components; and c) increased the number of target matches. These results suggest that feedback of reduced dimensions by remapping space into its main principal components in a game like environment may increase selective motor control in children with CP.

Virtual reality (VR) systems can help not only as a complementary tool in the rehabilitation of patients suffering any motor disorder, but also as a method to evaluate objectively the patient’s performance during this process. In this study, a VR system named Toyra® has been used to develop a set of indexes comprising information about spinal cord injury (SCI) patients in terms of: amplitude of movements, precision, agility and repeatability. Patients with different levels of SCI (from C5 to C8) have performed a number of Toyra® sessions. After processing the results, it has been observed that indexes values obtained by patients are inversely proportional to the height of the injury, suggesting that this tool could be useful in the evaluation of patient’s motor abilities of upper limbs.

This paper describes the development of a Virtual Reality (VR) based therapeutic training system aimed at encourage stroke patients with upper limb motor disorders to practice physical exercises. The system contains a series of physically-based VR games. Physically-based simulation provides realistic motion of virtual objects by modelling the behaviour of virtual objects and their responses to external force and torque based on physics laws. We present opportunities for applying physics simulation techniques in VR therapy and discuss their potential therapeutic benefits to motor rehabilitation. A framework for physically-based VR rehabilitation systems is described which consists of functional tasks and game scenarios designed to encourage patients' physical activity in highly motivating, physics-enriched virtual environments where factors such as gravity can be scaled to adapt to individual patient's abilities and in-game performance.

Although Parkinson’s disease (PD) is primarily a motor disorder, increased attention has been directed towards other manifestations of the disease. Depression has been reported to occur in 32%-51% of patients with PD [1,2]. Recognition of affective changes is important, since it has therapeutic implications. The assessment of depression is based upon clinical impression, while its quantitative evaluation is expressed as scores obtained on “depression inventories,” which were originally constructed for patients with endogeneous depression, but not validated for patients who suffer from organic, debilitating conditions. Most of the popular inventories, e.g., Hamilton’s [3] and Beck’s [4], contain items which refer to symptoms that can also be explained by the accompanying motor and/or mental impairment. Therefore, it is important to establish the reliability of such tests in PD. Also, it is possible that certain questions, not included in the depression inventories mentioned above, could apply more specifically to the depression of PD. The subjective nature of the depressive symptoms stresses the importance of patients’ own evaluations of their affective state, as well as that of the caregiver. In the present study, we have compared the affective status assessed by the physician with the assessment made by patients and their caregivers.

In 1980, J.W. Lance offered the following operational definition of spasticity: “Spasticity is a motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes (‘muscle tone’) with exaggerated tendon jerks, resulting from hyper-excitability of the stretch reflex, as one component of the upper motor neuron syndrome” (Lance 1980) [italics added]. This has come to be the most widely used definition of this collection of clinical signs. Ten years later Lance reiterated the definition with the added remarks that ‘spasticity does not include impaired voluntary movement and an abnormal posture. These are often features of upper motoneuron lesions…” (Lance 1990).

For over a decade the commonly adopted definition of human spasticity has been “a motor disorder characterized by a velocity dependent increase in tonic stretch reflexes (muscle tone) with exaggerated tendon jerks” (Lance 1980). However, the manifestations of spasticity are heterogeneous, which complicates attempts to develop a test that encompasses all the clinical signs observed in human spinal cord injury (SCI; Wiesendanger 1985). To avoid this problem, Noth (1991) has suggested that the term spasticity be used “only when the typical increase in muscle tone is present.” Thus, progress in understanding human spasticity might arise from the study of “one typical subtype of ‘spasticity’“(Young 1980). Accordingly, we have operationally defined animal spinal spasticity as augmented muscle tone and stretch reflexes resulting from spinal injury (for a review on the mechanisms and quantitation of spastic hypertonia see Katz and Rymer 1989).

Multiple factors and in varying degrees are involved in the etiology of peptic uleer disease. Gastric acid secretion, mucosal defense mechanisms, gut hormones (i.e., hypergastrinemia), and motor disorders of the upper gastrointestinal tract have been associated with the pathogenesis of peptic ulcer. The relevance of motility disorders, however, as well as their cause-effect relationship in the pathogenesis of ulcers are still unclear.

Motor disorders involving electrical control activity (ECA), fasting, and fed gastroduodenal motility and alteration in gastric emptying have been identified in patients with dyspeptic symptoms [2], chronic type B gastritis [3], and duodenogastric reflux [4]. The most frequent abnormality of antroduodenal motility during fasting is a longer than normal duration of migrating myoelectrical complexes (MMCs) mainly due to a prolongation of phase II and shortening of phase I activity [1]. This abnormality should increase the possibility of generating a gastroduodenal bile reflux which was earlier considered to be the main pathophysiologic process involved in the genesis of chronic gastritis. The demonstration that MMC prolongation and duodenogastric reflux is present also in patients without gastritis [1] may suggest the hypothesis that gastritis is more a consequence than cause of the motor abnormality, such as in case with esophagitis and of gastroesophageal reflux.

Spasticity has been defined as a motor disorder characterized by a velocity-sensitive increase in the resistance to passive stretch of muscles, accompanied by exaggerated tendon reflexes. This is thought to result from the hyperexcitability of stretch reflexes as one component of the upper motor neurone syndrome [9, 51]. This definition does not, however, apply to all symptoms and complaints of the upper motor neurone syndrome, for example exaggerated flexor reflexes (flexor spasms), muscle weakness and loss of dexterity.

The term “spasticity,” as defined by LANCE (7) as “a motor disorder characterized by a velocity dependent increase in tonic stretch reflexes (muscle tone) with exaggerated tendon jerks,” includes a clinical phenomenon which is produced by spinal and supraspinal lesions in the central nervous system: The transection of the brain stem at midbrain level, a condition that SHERRINGTON (16) called “decerebrate rigidity,” and the condition after spinal cord trauma are combined with clinical and electrophysiological findings identical to the above-mentioned definition. Nevertheless, it certainly cannot be excluded that different mechanisms of neuronal interactions are involved in the formation of spasticity. Although the imbalance between the different descending systems, including the reticulospinal and vestibulospinal tracts, could play a major role in the spasticity triggered by supraspinal lesions, the “sprouting” theory is gaining more and more importance in the light of growing knowledge of the plasticity of the adult central nervous system. McCOUCH et al. (9) and LIU and CHAMBERS (8) found in monkeys and cats a sprouting of segmental afferent terminals below a spinal cord transection area. It appeared that sprouts and terminals of dorsal root fiber axons in part take over vacated synaptic sites originally occupied by terminations of descending, now degenerated, fibers.

The first clinical description of esophageal spasm was given by Osgood in 1889, but the term diffuse spasm of the lower part of the esophagus was used for the first time by Moersch and Camp in 1934. Diffuse spasm is a neuromuscular motor disorder of the esophagus characterized by substernal distress or dysphagia or both, by the roentgenographic appearance of localized non-progressive con tractions and by an increased incidence of non-peristaltic and often huge pressure waves on manometric recordings (Fleshler, 1967; Kramer, 1970). To denote these radiological and manometric abnormalities in an asymptomatic patient the term asymptomatic diffuse spasm has been proposed (Kramer, 1970). The disorder is less diffuse than its name might suggest. Generally the distal segment of the esophagus is affected over a variable extent, whereas the proximal segment remains normal.

Stimulation of various parts of the nervous system has been employed for treatment of several motor disorders for some time. Although directly implanted dorsal cord stimulators have been used for the management of pain since 1967 [86], the first published report of the use of spinal cord stimulation in motor disorders did not appear until 1973 when Cook et al. [7] reported improvement in spasticity in patients with multiple sclerosis for whom they were using spinal cord stimulation for pain. It proved to be effective also in subsequent patients without pain [6, 8]. Shortly afterward, Dooley [27, 29] reported beneficial effects in patients with olivopontocerebellar atrophy and Friedreich’s ataxia. The author had the opportunity to report the use of high-frequency dorsal cord stimulation in spasmodic torticollis, in a series which had begun in 1971 [36, 37].

The options in surgical therapy for patients with peptic esophagitis and acquired shortening include (a) an esophageal lengthening procedure such as a gastroplasty of the type originally described by Collis [1–3] in combination with a partial [4–7] or complete [8, 9] fundoplication to complete the anti-reflux repair, (b) an intrathoracic Nissen fundoplication [10–13], and (c) the Hill repair [14,15]. There are definite advantages and disadvantages to each approach.

Certain subjects, in general with a psychopathological background, complain about a permanent „lump“ or „foreign body“ in their throat. This sensation is called globus hystericus when, as is usually the case, no local lesion or motor disorder of the pharyngoesophageal region can be detected. The name indicates that the symptom is considered as a manifestation of a neurotic trouble. It has been known for a long time and was already mentioned in the Hippocratic treatises.