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

Y J Crow; S M Zuberi; R McWilliam; J L Tolmie; A Hollman; K Pohl; J B Stephenson

doi:10.1136/jmg.35.2.94

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

J Med Genet. 1998 Feb;35(2):94-8. doi: 10.1136/jmg.35.2.94.

Authors

Y J Crow¹, S M Zuberi, R McWilliam, J L Tolmie, A Hollman, K Pohl, J B Stephenson

Affiliation

¹ Department of Clinical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK.

Abstract

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 muscle ultrasound in four gene carriers.

Publication types

Case Reports

MeSH terms

Cataplexy / diagnosis
Cataplexy / genetics
Cataplexy / physiopathology*
Electrocardiography
Electroencephalography
Electromyography
Face / abnormalities
Facies
Female
Fingers / abnormalities
Genetic Linkage
Humans
Infant
Intellectual Disability / genetics
Intellectual Disability / physiopathology*
Magnetic Resonance Imaging
Male
Muscle, Skeletal / diagnostic imaging*
Musculoskeletal Abnormalities / diagnostic imaging*
Musculoskeletal Abnormalities / genetics
Musculoskeletal Abnormalities / physiopathology
Neuromuscular Diseases / diagnosis
Neuromuscular Diseases / genetics
Neuromuscular Diseases / physiopathology*
Noise / adverse effects
Syndrome
Ultrasonography
X Chromosome