Cleveland Clinic is one of 19 inaugural Mitochondrial Medicine Centers in the new Mitochondrial Care Network. A medical co-chair of the network explains its mission and the challenges it will take on.
Pearson syndrome is among the most deadly and devastating of the mitochondrial diseases. An ongoing study will provide the first close look at its natural history. The lead investigator shares insights.
A case of developmental delay, hypotonia and macrocephaly in a toddler leads to discovery of identical PTEN gene mutations in multiple family members, thanks to a multidisciplinary PTEN clinic.
No published recommendations existed to guide patient management decisions and standardize preventive care for this rare group of genetic disorders — until now.
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Forthcoming management guidelines will be the culmination of a steady march toward development of a systematic approach to mitochondrial diseases. A specialist spearheading the effort shares details.
A toddler presents after a prolonged complex partial seizure with agitation and hyperkinetic movements. MRI shows subtle FLAIR signal changes in the fronal gyrus. How would you proceed?
A novel risk index based on eye gaze tracking has been found highly accurate in distinguishing autism from non-autism disorders. It just might boost acceptance of the diagnosis by parents wary of clinical impressions alone.
Rett syndrome is a rare but debilitating genetic neurodevelopmental with no cure. Cleveland Clinic and Case Western Reserve University researchers are exploring ketamine as a possible treatment.
Telling parents their child should be evaluated for autism need not be fraught with anxiety, especially since early and appropriate support can make a world of difference.
Considering the variety and complexity of symptoms involved in the pediatric neurodevelopmental disorder known as CDKL5-related disease, a multidisciplinary approach to medical care is important. Cleveland Clinic Children’s opened the country’s third CDKL5 center of excellence in 2014.