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

Genetic disorders that masquerade as multiple sclerosis

M R Natowicz1, B Bejjani

  • 1Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA 02254.

American Journal of Medical Genetics
|January 15, 1994
PubMed
Summary
This summary is machine-generated.

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

Late-onset Tay-Sachs disease presenting as a childhood stutter.

Journal of neurology, neurosurgery, and psychiatry·2008
Same author

Double outlet right ventricle: aetiologies and associations.

Journal of medical genetics·2008
Same author

Late-onset Tay-Sachs disease: adverse effects of medications and implications for treatment.

Neurology·2006
Same author

High-resolution human genome scanning using whole-genome BAC arrays.

Cold Spring Harbor symposia on quantitative biology·2004
Same author

Idazoxan, an alpha-2 antagonist, and L-DOPA-induced dyskinesias in patients with Parkinson's disease.

Movement disorders : official journal of the Movement Disorder Society·2001
Same author

A seat at the table: membership in federal advisory committees evaluating public policy in genetics.

American journal of public health·2001

Genetic disorders can mimic multiple sclerosis (MS) symptoms, leading to misdiagnosis. Recognizing these genetic conditions is crucial for accurate diagnosis and family screening.

Area of Science:

  • Neurology
  • Genetics
  • Medical Diagnostics

Background:

  • Multiple sclerosis (MS) is a chronic neurological disease.
  • Some genetic disorders present with symptoms similar to MS.
  • These genetic conditions can be misdiagnosed as MS in both children and adults.

Purpose of the Study:

  • To review single gene disorders that mimic the phenotype of multiple sclerosis.
  • To provide guidance on identifying genetic disorders presenting as MS.
  • To highlight the importance of genetic testing in differential diagnosis.

Main Methods:

  • Literature review of single gene disorders.
  • Analysis of clinical and biochemical characteristics of these disorders.
  • Discussion of diagnostic screening and confirmation methods.

Related Experiment Videos

Main Results:

  • Identified various single gene disorders that can present with MS-like symptoms.
  • Detailed major clinical and biochemical features for each disorder.
  • Outlined appropriate diagnostic tests for screening and confirmation.

Conclusions:

  • Recognizing genetic disorders that masquerade as MS is critical.
  • Accurate genetic diagnosis impacts patient management and family risk assessment.
  • Suspecting genetic conditions is important in patients with probable or definite MS.