Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean-Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.
Males with Duchenne muscular dystrophy aged 5 years to 18 years were subdivided according to the predicted effects of the participants' DMD mutation on dystrophin isoform expression (group 1, Dp427 absent, Dp140/Dp71 present; group 2, Dp427/Dp140 absent, Dp71 present).
Predicted reduced Dp140 expression was associated with reduced grip and pinch strength.
Predicted reduced Dp140 expression was associated with reduced forced vital capacity percent predicted.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal transmission, and metabolic dysfunction. Evidence for ACTH/corticosteroids altering these processes is limited. IESS likely involves interacting processes affecting neurodevelopment. Understanding aetiopathogenic mechanisms further may lead to improved therapies and outcomes.
Left: Distribution of NIH funding, as percentages, for different categories within the CP portfolio. Right: NIH allocation, in dollars, for stroke, autism spectrum disorders, Parkinson#x00027;s disease, multiple sclerosis, and cerebral palsy.
GMFM-66-IS scores were supported by strong construct validity and moderate responsiveness evidence for use with infants and toddlers at high risk for CP.
Children and adolescents with SGCE-associated myoclonus dystonia showed a progression of motor symptoms during a mean follow-up of 4 years. Patients developed a significant increase in the severity of axial and limb myoclonus, as well as dystonia during writing. Consequently, patients reported a marked decline in their speech, writing, and walking abilities. Up to 74% of patients had a psychiatric diagnosis, most commonly anxiety, obsessive-compulsive disorder, and attention-deficit/hyperactivity disorder.
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