Div. Of Neurology, Dept. Of Medicine Ramathibodi Hospital .

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Inherited ChannelopathiesTeeratorn PulkesDiv. of Neurology, Dept. of MedicineRamathibodi Hospital Mahidol University

Periodic paralysis family

αβ1ExtracellularIIIIVIIIIntracellularNa

Channelopathies Dysfunction of membrane-bound ionchannels Paroxysmal symptoms

Channelopathies Gating – Open conductingClose non-conducting Membrane potential voltage-gated Extracellular ligand ligand-gated

Na, K, (Cl)RestingDepolarisationVoltage-gated Na ch.Depolarised cellLigand-gated Na ch.Na influxRapid inactivation Na ch.RepolarisationActivated K ch.K effluxAction potentialNerve endingVoltage-gated Ca ch.Ach release

RestingDepolarisationNa, K, ClLigand-gated Na ch.Depolarised cellT-tubuleSRVotage-gated Ca ch.K accummulateRyanodine receptorCa influxMyoplasmMuscle contractionCl buffer

Clinical manifestationsPNSCNS Myotonia Migraine Periodic paralysis Ataxia Malignant hyperthermia Seizure Myasthenic Syndrome PKC

Myotonia

Myotonia Myotonia - muscles slow to relax, stiffeffect of exertion Cold effect Associated weakness - transientperiodicprogressive Painful spasms Daily/monthly fluctuation

Myotonia CongenitaThomsen’s - autosomal dominantBecker’s - autosomal recessive “Warm up” phenomenon Little worse with cold

Myotonia Congenita Anaesthetics may worsen stiffness Same gene responsible for both conditions Chloride ion channel - Chr.7q35, CLCN-1 gene

Paramyotonia CongenitaAutosomal dominant Myotonia worsens with exertion (paradoxical) Cold makes stiffness much worse Episodes of weakness especially after exercise Painful spasms more common Fluctuation over the same day

Paramyotonia Congenita Anaesthetics may worsen stiffness Diuretics and foods rich in potassium worsenthe conditions Sodium ion channel

NeurophysiologyRoutine EMG and NCS were normal apartfrom obvious myotonic dischargesCold immersion studies revealed a drop inCMAP

Treatment avoid things that bring on symptoms myotonia congenita – Mexiletine*Phenytoin paramyotonia congenita - AcetazolamideMexiletineSalbutamol

Hyperkalemic periodic paralysis AD Attacks of limb weakness Minutes to hours K early in attack Myotonia may be present

Hypokalemic periodic paralysis AD Attacks of generalised weakness Hours to days K during attack

Hypokalemic periodic paralysis No other medical cause Dysmorphism– Face, heart, hypoplastic kidney ECG– Ventricular arrhythmia

Treatment HyperPP or Hypo PP– NormoPP Rx as HyperPP Acute Preventive Rx

Treatment of HyperPP Acute– Acetazolamine– Thiazide diuretic Prevention of attacks– Acetazolamine– Thiazide diuretic– Dichlorphenamide

Treatment of HypoPP Acute– Oral potassium chloride Prevention of attacks– Acetazolamine– Dichlorphenamide

Malignant hyperthermia Fatal Follow exposure to general anesthesia Muscle rigidity, rhabdomyolysis Hyperthermia Shock, acidosis & hyperkalemia

Malignant hyperthermia AD Ca Channel Ryanodine receptor

Congenital myasthenic syndrome Ligand-gated ch. – Ach receptor Heterogeneous – AD or AR Early onset Weakness and fatigue EMG & Histopathology as MG

Periodic ataxias Acetazolamide–responsive episodicataxia 2 types Episodic ataxia type 1 (EA1) Episodic ataxia type 2 (EA2)

Periodic ataxiasEA1EA2OnsetChildhoodChildhoodDuration of attackSeconds to minutesHours to daysPrecipitantsStartle, sudden movementand stressStress and exerciseAdditional ictal symptomsNoneHeadache and nauseaInterictal signsMyokymiaNystagmus and progressiveataxiaInterictal EMGContinuous repetitivedischargesNormalResponse to acetazolamine VariableConsistently goodChannel affectedCa channelK channel

Ca channel Familial hemiplegic migraine – missensemutation EA2 – nonsense mutation SCA6 – CAG repeat expansion

We know Molecular pathology & pathophysiology Many diseases have available treatments Several medicines action on channels

Yet to be done Identify more Improve diagnostic methods Improve treatment

Acknowledgements NP Davies L Eunson MG Hannaกลับสู เมนูหลัก

Malignant hyperthermia Fatal Follow exposure to general anesthesia Muscle rigidity, rhabdomyolysis Hyperthermia Shock, acidosis & hyperkalemia. Malignant hyperthermia AD Ca Channel Ryanodine receptor. . Microsoft PowerPoint - Channel lecture khonkhan

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