Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Familial nocturnal cramping.

J H Jacobsen, R S Rosenberg, P R Huttenlocher

    Sleep
    |January 1, 1986
    PubMed
    Summary

    A rare familial syndrome causes painful nocturnal cramping and jerking. This genetic disorder, affecting multiple generations, involves brainstem or spinal myoclonus and sustained muscle activity during sleep.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Developmental changes of parental-reported sleep disturbance symptoms in children with attention deficit disorder.

    Journal of clinical psychology in medical settings·2013
    Same author

    Zolpidem reduces the sleep disturbance of jet lag.

    Sleep medicine·2003
    Same author

    A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation.

    Neurology·2003
    Same author

    Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.

    Pediatric radiology·2000
    Same author

    The neuropathology of phenylketonuria: human and animal studies.

    European journal of pediatrics·2000
    Same author

    Reorganization of the hand somatosensory cortex following perinatal unilateral brain injury.

    Neuropediatrics·2000

    Area of Science:

    • Neurology
    • Genetics
    • Sleep Medicine

    Background:

    • Familial sleep disorders can significantly impact quality of life.
    • Understanding the genetic basis of nocturnal movement disorders is crucial for diagnosis and treatment.

    Observation:

    • A three-generation family presented with a syndrome of painful nocturnal cramping and jerking.
    • Polysomnography revealed myoclonic jerks and sustained muscular activity during sleep in affected members.

    Findings:

    • This study describes the first known familial disorder exclusively characterized by nocturnal intermittent cramping and myoclonus.
    • The symptoms appear to originate from the brainstem or spinal cord.

    Implications:

    • This finding may lead to new diagnostic criteria for familial sleep-related movement disorders.
    • Further research into the genetic and neurological underpinnings of this syndrome is warranted.
    • Potential for targeted therapies for affected families.

    Related Experiment Videos