"Cataplexy" in Coffin-Lowry syndrome.

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

The Coffin-Lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital features. We have observed an unusual, non-epileptic, cataplexy-like phenomenon in three subjects with the syndrome and we speculate that this feature may go unrecognised. We also provide evidence of neuromuscular dysfunction as part of the phenotype by showing abnormalities on muscl...

The Coffin-Lowry syndrome.

Coffin-Lowry Syndrome

Disease characteristics. Coffin-Lowry syndrome (CLS) is characterized by severe to profound mental retardation in males. Intellect ranges from normal to profoundly retarded in heterozygous females. The facial appearance is characteristic in the affected, older male child or adult. The hands are short, soft, and fleshy, often with remarkably hyperextensible fingers that taper from wide (proximal...

Clinical Report Cardiomyopathy in Coffin–Lowry Syndrome

Jennifer J. Facher, Elizabeth J. Regier, Gretta H. Jacobs, Ernest Siwik, Jean-Pierre Delaunoy, and Nathaniel H. Robin* Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio Department of Pathology, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland Oh...

The movement disorders of Coffin-Lowry syndrome.

Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutations in the gene RSK2. Originally, epilepsy was reported as a feature. We and others have since described predominantly sound-startle induced drop attacks that have been labelled 'cataplexy', abnormal startle response and hyperekplexia. We sought to clarify why there shou...