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Isaac's Syndrome

Autosomal DominantAutosomal RecessiveIon Channels / MembraneOMIM 137200
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Overview

From WUSTL Neuromuscular

Associated disorders Clinical Differential diagnosis EMG Laboratory Clinical Features Onset age Range: 9 to 80 years Most < 60 years Mean 46 years Symptoms fluctuate In severity over periods of months Precipitated by exercise or muscle contraction Movements Often visible Types Myokymia Neuromyotonia Fasciculations Muscle twitching: Symptomatic in 12% to 40% Cramps & Stiffness Stiffness at rest May be induced or exacerbated by exercise Distribution Distal > Proximal Face, tongue & Pharyngeal muscles may be involved Intermittent Delayed muscle relaxation No percussion induced contraction Muscle

OMIM Entries

OMIM #137200OMIM #555000OMIM #604569OMIM #601142OMIM #604619OMIM #600512OMIM #190197OMIM #176257OMIM #176262OMIM #176260

Related Conditions

Shared genes
Antibodies vs Receptors & Channels
MVIICACHR
Hyperthyroidism
ACHR
Inclusion Body Myositis (IBM)
VAMPIADRB1
Macrophagic Myofasciitis
DRB1
Muscle Membrane Proteins
SGC-TERMINALHOMOLOGOUS
POLYMYALGIA RHEUMATICA
DRB1TNF

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.