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Objective The number of studies investigating and understanding the disease mechanisms of Duchenne muscular dystrophy (DMD) in human clinical trials have increased substantially over the last decade. Suitable clinical instruments for the measurement of disease progress and drug efficiency are mandatory, but currently not available, especially in the youngest patients. The aim of this study was to detect a reproducible pattern of muscle involvement in early stages potentially preceding evidence of motor regression. Material and methods A cohort of 25 DMD patients aged 1–6 years at the first presentation were examined at multiple timepoints and compared with age-matched healthy controls. Muscle ultrasound was quantified using computer-analyzed gray scale levels (GSL) and blinded visual rating, using a modified Heckmatt scale. Results Changes in muscle echogenicity in DMD patients occurred very early, clearly preceding motor regression and in some cases, even before the motor plateau phase was reached. Visual rating and GSL identified the earliest changes in the proximal adductor magnus muscle. Conclusion Muscle ultrasound can be used as an additional method to assess the disease progression and for decision-making in paucisymptomatic DMD patients. Sonographic changes in the ad-ductor magnus muscle seem to be the first detectable changes with a recognisable pattern.

Childhood arterial ischaemic stroke (AIS) is a rare, but potentially life-threatening event which requires early diagnosis and adequate treatment. The reported significant time delay to childhood AIS diagnosis may be associated with low awareness, the more nonspecific clinical presentation as well as difficult clinical differentiation to more common "stroke mimics" and a less established "acute care structure" with delayed access to proper neuroimaging. Compared with adult stroke care, experiences with acute reperfusion therapies like thrombolysis and mechanical thrombectomy are promising but limited and not based on clinical trials. The etiological work-up is absolutely essential, as the child's individual risk profile determines acute management, secondary prevention, risk of recurrence and outcome. Follow-up care should be organized in a multidisciplinary setting covering all bio-psycho-social aspects to achieve the best integration of the child into its educational, later professional and social environments.Der Schlaganfall im Kindes- und Jugendalter ist ein seltenes, aber potentiell lebensbedrohliches Ereignis und erfordert rasche Diagnosestellung und Therapie. Aufgrund der geringen Awareness, der häufigen unspezifischen klinsichen Präsentation mit einer Fülle zu bedenkender, wahrscheinlicherer Differenzialdiagnosen sowie der noch wenig etablierten Versorgungsstrukturen wird der kindliche Schlaganfall oft erst mit einer deutlichen Zeitverzögerung diagnostiziert. In der Erwachsenenneurologie etablierte Revaskularisationstherapien können in der Pädiatrie aktuell nur als off-label Therapien mit begrenzten Erfahrungen eingesetzt werden. Die ätiologische Abklärung ist unabdingbar, bestimmt doch das individuelle Risikoprofil neben Akutmanagement und Rezidivprophylaxe auch das Rezidivrisiko und Outcome. Die Langzeitbetreuung der betroffenen Kinder und Jugendlichen sollte im multidisziplinären Setting unter Berücksichtigung aller bio-psycho-sozialer Aspekte erfolgen. Denn neben dem klinisch neurologischen Outcome sind insbesondere auch die Auswirkungen des Schlaganfalls auf Kognition und Verhalten für eine erfolgreiche Integration des Kindes in sein schulisches und soziales Umfeld mitentscheidend.

PURPOSE: To compare growth patterns during infancy, childhood and adolescence in children with unilateral and bilateral cerebral palsy (CP) phenotype and to assess the association with gross motor impairment, dysphagia and gestational age. METHODS: We retrospectively studied 389 children with CP from a single center population in Munich, Germany. 1536 measurements of height and weight were tabulated and z-scored from 6 to 180 months of age. Generalized linear mixed model were used to examine the association between growth, GMFCS, dysphagia and gestational age by CP phenotype. RESULTS: Children with unilateral CP tend to grow similarly to their typically developed peers. In the main effect model, bilateral CP phenotype was significantly associated with decreased mean z-scores for height (β[95% CI] = -0.953 [-1.145, -0.761], p < 0.001), weight (−0.999 [−1.176, −0.807], p < 0.001) and BMI (β[95% CI] = −0.437 [−0.799, −0.075]), compared with unilateral CP phenotype.This association remained significant in the interaction models. The height-for-age z-scores, weight-for-age decreased z-scores and BMI-for-age z-scores of children with bilateral CP and GMFCS III–V or dysphagia decreased more significantly than those of children with unilateral CP. Preterm birth was not significantly associated with decreased growth in height, weight and BMI.CONCLUSION: Reduced growth in children with bilateral CP was strongly associated with moderate to severe impairment in gross motor function (GMFCS III–V) and dysphagia.

BACKGROUND Early-onset myopathies are a heterogeneous group of neuromuscular diseases with broad clinical, genetic and histopathological overlap. The diagnostic approach has considerably changed since high throughput genetic methods (next generation sequencing, NGS) became available. OBJECTIVE We present diagnostic subgroups in a single neuromuscular referral center and describe an algorithm for the diagnostic work-up. METHODS The diagnostic approach of 98 index patients was retrospectively analysed. In 56 cases targeted sequencing of a known gene was performed, in 44 patients NGS was performed using large muscle specific panels, and in 12 individuals whole exome sequencing (WES) was undertaken. One patient was diagnosed via array CGH. Clinical features of all patients are provided. RESULTS The final diagnosis could be found in 63 out of 98 patients (64%) with molecular genetic analysis. In 55% targeted gene sequencing could establish the genetic diagnosis. However, this rate largely depended on the presence of distinct histological or clinical features. NGS (large myopathy-related panels and WES) revealed genetic diagnosis in 58.5% (52% and 67%, respectively). The genes detected by WES in our cohort of patients were all covered by the panels. Based on our findings we propose an algorithm for a practical diagnostic approach.Prevalences:MTM1- and LAMA2-patients are the two biggest subgroups, followed by SEPN1-, RYR1- and Collagen VI-related diseases. 31% of genetically confirmed cases represents a group with overlap between "congenital myopathies (CM)" and "congenital muscular dystrophies (CMD)". In 36% of the patients a specific genetic diagnosis could not be assigned. CONCLUSIONS A final diagnosis can be confirmed by high throughput genetic analysis in 58.5% of the cases, which is a higher rate than reported in the literature for muscle biopsy and should in many cases be considered as a first diagnostic tool. NGS cannot replace neuromuscular expertise and a close discussion with the geneticists on NGS is mandatory. Targeted candidate gene sequencing still plays a role in selected cases with highly suspicious clinical or histological features. There is a relevant clinical and genetic overlap between the entities CM and CMD.

Aim The aim of the present analysis is to confirm or refute the association of neck pain to migraine or tension-type headache and to assess whether this association is independent of other risk factors for headache. Methods Secondary school students were invited to complete a questionnaire on headache and lifestyle factors in a cross-sectional study. Neck pain was assessed via (a) a screening question concerning neck pain and (b) denoting affected areas in schematic drawings of the human body. Results Absolute increment in prevalence of headache with pain in the shoulder-neck region was between 7.5% and 9.6%. Gender, grade, stress and lifestyle factors were assessed as potential confounding factors. Nearly all factors were associated with shoulder-neck pain and most with headache. After adjustment for confounders, the association of neck pain with headache was almost completely confined to migraine (OR 2.39; 95% CI 1.48–3.85) and migraine + tension-type headache (OR 2.12; 95% CI 1.50–2.99), whereas the association with isolated tension-type headache was negligible (OR 1.22, 95% CI 0.87–1.69). Conclusion Neck pain is associated with migraine but not with tension-type headache. A possible link between migraine and neck pain may be the cervico-trigeminal convergence of neck and meningeal sensory afferents or a disturbed descending inhibition in migraine.

mirror movements are a transient phenomenon during childhood, which decrease in intensity with motor development. An increasing inhibitory competence resulting in the ability of movement lateralization is thought to be the underlying mechanism. We aimed to quantify unintended mirror movements systematically across the lifespan and to investigate the influences of age, sex, handedness, and task frequency.a total of 236 participants (127 females, 109 males; 216 right-handed, 20 left-handed; age range 3-96y, median 25y 8mo) first performed four clinical routine tests while mirror movements were rated by the observer. They were then asked to hold a force transducer in each hand between the thumb and index finger and to perform oscillatory grip force changes in one hand, while the other hand had to prevent the force transducer from dropping.age showed a strong nonlinear effect on the mirror-movement ratio (the amplitude ratio of the mirror and active hand, adjusted by the respective maximum grip force). Initially, there was a steep decline in the mirror-movement ratio during childhood and adolescence, followed by a gradual rise during adulthood. Males had lower mirror-movement ratios than females. The high-frequency condition triggered lower mirror-movement ratios. No significant differences of mirror movements between dominant and non-dominant hand, or left- and right-handed participants, were found.this study provides, for the first time to our knowledge, normative values of mirror movements across the lifespan that can aid differentiation between physiological and pathological mirror movements.