Disease Information for Isaacs potassium channel myopathy syndrome

Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Myopathic facies/snarling smile
Constipation Children
Tongue Protrudes Infant
Cramping in Extremities
Delay Sitting Unsupported Infant
Mouth Hangs Open Infant
Muscle cramps/spasms
Muscle Pain
Muscle twitches
Muscle weakness
Muscles Soft/Doughy Infant
Myokimia/Muscle pulling sensation
Myotonic like rigidity of muscles
Rolling Over Delay Infant
Stiff muscles/spasms legs/feet
Thigh pain
Babkin infant sign/Abnormal
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Hyporeflexia/DTRs decreased
Infant Head Support Delay
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Spasms in Both Legs
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Disease Progression
Laboratory Tests
Microbiology & Serology Findings
Serum specific antibodies increased
Abnormal Lab Findings (Non Measured)
Autoimmune antibody present/increased (Lab)
Abnormal Lab Findings - Increased
Anti-Potassium Channel/KCNA6 antibodies (labs)
Diagnostic Test Results
EMG/Abnormal findings
EMG/Continuous activity
Associated Diseases & Rule outs
Rule Outs
Eaton-Lambert syndrome
Muscular dystrophy
Myotonia atrophica
Associated Disease & Complications
Metabolic Myopathy
Neonatal Hypotonia/Floppy Baby Syndrome
Disease Mechanism & Classification
CLASS/Primary organ/system disorder (ex)
CLASS/Motor-end plate disorder (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology/Sodium/potassium memb pump inhibited
Pathophysiology/Potassium channel muscle disorder
PROCESS/Allergy/collagen/autoimmune (category)
PROCESS/Autoimmune disorder (ex)
PROCESS/INCIDENCE/Esoteric disease (example)
Isaacs potassium channel myopathy syndrome, Synonym/Isaacs potassium channel myopathy, Synonym/Isaacs-Mertens Syndrome, Synonym/Neuromyotonia (Isaacs)
Drug Therapy - Indication
RX/Carbamazepine (Tegretol)

auto-immune response to potassium channels in lower limb muscles; caused by anti-bodies to K+ channels (KCNA6) antigen;known as Isaac syndrome; benign condition;----------------------------------.Neuromyotonia;Continuous Muscle Fiber Activity Syndrome ; Isaacs" Syndrome; Isaacs-Merten Syndrome; Quantal Squander; Neuromyotonia is a rare neuromuscular disorder characterized by abnormal nerve impulses from the peripheral nerves; These impulses cause continuous muscle fiber activity that may continue, even during sleep; The disorder, which has both inherited and acquired forms, is characterized by muscular stiffness and cramping, particularly in the limbs; Continuous fine vibrating muscle movements (myokymia) can be seen; Muscle weakness may also be present; Muscle relaxation may be difficult especially after physical activity involving the particular muscle(s); [NORD]----------------------------------------.Isaac"s syndrome is a disorder of unknown cause that produces predominantly limb symptoms; Abnormalities may originate in a peripheral nerve because they are abolished by curare but usually persist after general anesthesia; The sine qua non is myokymia--continuous muscle twitching described as "bag of worms" movements; Usually also present are carpopedal spasms, intermittent cramps, increased sweating, and pseudomyotonia (impaired relaxation after a strong muscle contraction but without "dive bombers"--thecharacteristic electromyographic abnormality of true myotonia); Carbamazepine or phenytoin relieves symptoms;[Merck Manual 17th]


External Links Related to Isaacs potassium channel myopathy syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)