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The selenoprotein N1-related myopathies comprise rigid spine muscular dystrophy, the “classical” form of multiminicore disease, a desmin-related myopathy with Mallory body like inclusions and a form of congenital fiber-type disproportion. To define the phenotype and long-term clinical course in juvenile Selenoprotein N1-related myopathies 11 juvenile patients from eight families with SEPN1 mutations were assessed over a mean period of 7.2 years. Clinical findings, histomorphological studies, respiratory investigations and genetic data were analyzed: age of manifestation varied within the first 2 years of life with muscle hypotonia, lag of head control and delayed motor development. Further gross motor development was normal in 9/11 patients. All patients were ambulant for at least 1000 m at a mean age of 13.7 years. Eight patients exhibited a rigid spine diagnosed at a mean age of 10 years. All patients had respiratory impairment with a vital capacity ranging from 18% to 65%. Four patients were intermittently nocturnally ventilated at a mean age of 11 years. Body mass index was below 20 (kg m −2 ) in all patients. Muscle biopsies of eight individuals revealed multiminicores ( n =2), congenital fiber-type disproportion ( n =1), myopathic changes with single cores ( n =2) and unspecific myopathic features ( n =3). Mutations were distributed throughout the entire SEPN1 gene. Although the phenotype of juvenile selenoprotein N1-related myopathies is homogenous regarding the main symptoms we describe a variable degree of clinical severity. Major complications were early respiratory failure, impaired increase in weight and orthopedic problems. There seems to be no correlation between skeletal muscle weakness and respiratory failure.

Coordination between perception and action is required to interact with the environment successfully. This is already trained by very young infants who perform spontaneous movements to learn how their body interacts with the environment. The strategies used by the infants for this purpose change with age. Therefore, very early progresses in action control made by the infants can be investigated by monitoring the development of spontaneous motor activity. In this paper, an objective method is introduced, which allows the quantitative evaluation of the development of spontaneous motor activity in newborns. The introduced methodology is based on the acquisition of spontaneous movement trajectories of the feet by 3D movement analysis and subsequent calculation of specific movement parameters from them. With these movement-based parameters, it was possible to provide an objective description of age-dependent developmental steps in healthy newborns younger than 6 months. Furthermore, it has been shown that pathologies like infantile cerebral palsy influence development of motor activity significantly. Since the introduced methodology is objective and quantitative, it is suitable to monitor how newborns train their cognitive processes, which will enable them to cope with their environment by motor interaction.

In order to limit the consequences of infantile cerebral palsy (ICP), physiotherapy should start as early as possible. This requires that infants at risk are detected at the earliest age possible. Today, diagnosis is based on visual observation by physicians and as such is influenced by subjective impressions. Objective methods, quantifying the pathological deviation from normal spontaneous motor activity would be preferable as they, for example, allow an inter- and intra-individual comparison of movement. In this paper we have developed a methodology that allows the 3-dimensional acquisition of unconstrained movement in newborn babies, using a motion analysis system. From the recorded movement data we have extracted 53 quantitative parameters that describe the differences between healthy and affected participants. Considered individually, each of these parameters does not permit a conclusive statement to be made as to whether or not the patient is at risk. Cluster analysis based on Euclidian distances therefore has been used to find an optimal combination of eight parameters. The optimal combination has been subsequently applied to organize the participants' movement into preferably homogeneous classes labelled "healthy" or "at risk". Classification was performed utilising quadratic discriminant analysis. The methodology presented allows a reliable discrimination between healthy and affected participants. Overall detection rate reached 73%. This value is expected to rise with increasing patient and norm collective database size.

Adductor spasticity in children with cerebral palsy (CP) impairs motor function and development. In a placebo-controlled, double-blind, randomized multicentre study, we evaluated the effects of botulinum toxin A(BTX-A) in 61 children (37 males, 24 females; mean age 6 years 1 month [SD 3y 1mo]) with CP (leg-dominated tetraparesis, n=39; tetraparesis, n=22; GMFCS level I, n=3; II, n=6; III, n=17; IV, n=29; V, n=6). Four weeks after treatment, a significant superiority of BTX-A was observed in the primary outcome measure (knee-knee distance 'fast catch', p=0.002), the Ashworth scale (p=0.001), and the Goal Attainment Scale (p=0.037).