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Our data show that KD is a multisystem disorder with onset in adolescence. Because of the heterogeneity of clinical presentation and no correlation between the number of CAG repeats and most of the clinical hallmarks of KD, we suggest that other environmental or genetic factors contribute to the manifestation of specific organ systems in KD.

Mutations in the human dysferlin gene ( DYSF) cause autosomal recessive muscular dystrophies characterized by degeneration and weakness of proximal and/or distal muscles: limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). Recently, an interaction between caveolin-3 and dysferlin in normal and dystrophic muscle (primary caveolin-3 deficiency; LGMD1C) was shown. In this study, clinical,morphological and genetic analysis was carried out in four independent LGMD2B/MM patients. All patients presented with an adult-onset, slowly progressive muscular dystrophy with variable involvement of proximal and distal muscles. We found complete lack of dysferlin in the four LGMD2B/MM patients. Secondary reduction of caveolin-3 was detected in three out of the four patients. Regular caveolae were detected along the basal lamina in two patients by electron microscopy. We provide further evidence that dysferlin and caveolin-3 interact in human skeletal muscle. It remains to be elucidated whether the loss of this interaction contributes to pathogenic events in muscular dystrophy.

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ZusammenfassungDie Aufmerksamkeitsdefizit-/Hyperaktivitätsstörung (ADHS) besteht bei ca. einem Drittel der Betroffenen noch in der Adoleszenz und im jungen Erwachsenenalter fort. Im Kindesund frühen Jugendalter macht sich oft neben der motorischen Hyperaktivität auch eine gewisse Ungeschicklichkeit bemerkbar. Daher sind sportliche Aktivitäten, die die motorischen Fähigkeiten fördern können, für Kinder, Jugendliche und Erwachsene mit ADHS besonders zu unterstützen. Gehen sportliche Aktivitäten in Richtung Leistungssport, bringt eine Medikation für ADHS-Patienten das Problem mit sich, dass Psychostimulanzien auf der Liste der verbotenen Substanzen der World Anti-Doping Agency stehen. Hier können nach ärztlicher Begutachtung Ausnahmeregelungen in Kraft treten, die die Einnahme von Psychostimulanzien zu Trainingszeiten, allerdings nicht im Wettkampf erlauben.Dieser Übersichtsartikel will zum einen die Relevanz sportlicher Aktivitäten als sinnvollen Baustein in der Therapie der ADHS verdeutlichen und zum zweiten die Vorgehensweisen und Möglichkeiten aufzeigen, wie für medizierte ADHS-Patienten Leistungssport und Wettkampfteilnahme möglich sind.

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Background Primary progressive multiple sclerosis (PPMS) is characterised by gradual worsening of disability from symptom onset. Knowledge about the natural course of PPMS remains limited. Methods PPMS patients from the German NeuroTransData (NTD) MS registry with data from 56 outpatient practices were employed for retrospective cross-sectional and longitudinal analyses. The cross-sectional analysis included a contemporary PPMS cohort with a documented visit within the last 2 years before index date (1 Jan 2021). The longitudinal analysis included a disease modifying therapy (DMT)-naïve population and focused on the evolution of expanded disability status scale (EDSS) from the first available assessment at or after diagnosis within the NTD registry to index date. Outcome measures were estimated median time from first EDSS assessment to first 24-week confirmed EDSS ≥ 4 and ≥ 7. Besides EDSS change, the proportion of patients on disability pension were described over time. Results The cross-sectional analysis included 481 PPMS patients (59.9% female, mean [standard deviation, SD] age 60.5 [11.5] years, mean [SD] EDSS 4.9 [2.1]). Estimated median time from first EDSS assessment after diagnosis to reach 24-week confirmed EDSS ≥ 4 for DMT-naïve patients was 6.9 years. Median time to EDSS ≥ 7 was 9.7 years for 25% of the population. Over a decade mean (SD) EDSS scores increased from 4.6 (2.1) to 5.7 (2.0); the proportion of patients on disability pension increased from 18.9% to 33.3%. Conclusions This study provides first insights into the German NTD real-world cohort of PPMS patients. Findings confirm the steadily deteriorating course of PPMS accompanied by increasingly limited quality of life.