Isaacs syndrome

Also known as: Neuromyotonia

Peripheral nerve hyperexcitability.

Medical specialty: Neurology
Subspecialty: Neurology / Neuromuscular
Sex & age distribution: Male: more common; Female: affected; Children: rare
Gene(s) involved: CASPR2, KCNA1, LGI1

Etiology & mechanism

CASPR2 and LGI1 antibodies in many.

Gene(s) involved (3)

CASPR2KCNA1LGI1

Symptoms & signs (5)

fasciculationshyperhidrosismuscle crampsmyokymiastiffness

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.