Clinical and investigational approach of a floppy infant
Hypotonia is a frequent clinical manifestation at birth or in early infancy. Some of the conditions causing hypotonia are unfortunately not treatable- but several are.…
04 Oct 2023
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Future EventsPast Events2023 - Oct
Pathomechanisms of Charcot-Marie-Tooth Disease
…TIMESLOT: October 4th 2023 at 16:00 Paris Time …THEME: Pathomechanisms of Charcot-Marie-Tooth …PRESENTER: Dr. Stefano Carlo Previtali (IRCCS Ospedale San Raffaele, Italy) …BIOSKETCH: Dr. Stefano…
2023 - Sep
EPNS Case Discussion – Complex movement disorders in atypical CLN2 disease
Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) is a rare lysosomal storage disease caused by a deficiency in TPP1 enzyme activity. Lack of disease awareness and…
Mitochondrial myopathies
…THEME: Mitochondrial Myopathies …PRESENTER: Prof. Dr. Anders Oldfors (University of Gothenburg and Sahlgrenska University Hospital, Sweden) …BIOSKETCH: Anders Oldfors studied medicine in Gothenburg, Sweden between…
2022 - Mar
Muscle ultrasound, a biomarker tool for muscular dystrophies
Delivered by Prof Nens van Alfen Nens van Alfen MD PhD is an associate professor of Neurology and clinical neurophysiologist from the Radboud university medical…