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7/28/2019 Berkala Paralyses
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Berkala Paralyses
Author: Naganand Sripathi, MD, Director, Neuromuscular Clinic, Department of Neurology,
Henry Ford Hospital Pengarang: Sripathi Naganand, MD, Direktur, Klinik neuromuskular,
Departemen Neurologi, Rumah Sakit Henry FordContributor Information and DisclosuresKontributor Informasi dan Pengungkapan
Updated: Nov 25, 2010 Diperbarui: Nov 25, 2010
Print ThisCetak ini Email ThisEmail This
OverviewIkhtisar Differential Diagnoses & WorkupDiferensial Diagnosa & hasil pemeriksaan
Treatment & MedicationPerawatan & Pengobatan Follow-upTindak lanjut ReferencesReferensi KeywordsKata kunci
Introduction Pengantar
Background Latar belakang
The heterogeneous group of muscle diseases known as periodic paralyses (PP) is characterized
by episodes of flaccid muscle weakness occurring at irregular intervals. Kelompok heterogenpenyakit otot yang dikenal sebagai melumpuhkan periodik (PP) yang ditandai dengan episode
kelemahan otot lembek terjadi pada interval yang tidak teratur. Most of the conditions are
hereditary and are more episodic than periodic. Sebagian besar kondisi keturunan dan lebihepisodik dari periodik. They can be divided conveniently into primary and secondary disorders.
Mereka dapat dibagi dengan mudah menjadi gangguan primer dan sekunder.
General characteristics of primary PP include the following: (1) they are hereditary; (2) most are
associated with alteration in serum potassium levels; (3) myotonia sometimes coexists; and (4)
both myotonia and PP result from defective ion channels. Karakteristik umum PP primermeliputi: (1) mereka turun temurun; (2) kebanyakan berhubungan dengan perubahan kadar
kalium serum, (3) myotonia kadang berdampingan, dan (4) baik myotonia dan hasil PP darisaluran ion rusak.
Pathophysiology Patofisiologi
A clinically useful classification of primary periodic paralyses, shown in Table 1, includeshypokalemic, hyperkalemic, and paramyotonic forms. Sebuah klasifikasi klinis yang berguna
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melumpuhkan periodik primer, ditunjukkan pada Tabel 1, termasuk bentuk hipokalemik,
hyperkalemic, dan paramyotonic.
Table 1. Tabel 1. Primary Periodic Paralysis Primer Kelumpuhan Berkala
Opentable in new windowBukatabel di jendela baru
[CLOSE WINDOW] [CLOSE WINDOW]
Table Tabel
Sodium channel Sodium
channel
Hyperkalemic PP (HyperPP) Hyperkalemic PP (HyperPP)
Hypokalemic PP (HypoPP2) Hipokalemik PP (HypoPP2)
Paramyotonia congenita Paramyotonia congenita
Calcium channel Kalsiumchannel
Hypokalemic PP (HypoPP1) Hipokalemik PP (HypoPP1)
Potassium channel Kaliumsaluran
Andersen-Tawil syndrome Andersen-Tawil syndromeHyperkalemic PP or hypokalemic PP* Hyperkalemic PP atau PPhipokalemik *
*The deficit was described in 2 small families and has not been substantiated by others.,
*
Defisit tersebut dijelaskan dalam 2 keluarga kecil dan belum dibuktikan oleh orang lain.1 , 2
Sodium channel Sodiumchannel
Hyperkalemic PP (HyperPP) Hyperkalemic PP (HyperPP)Hypokalemic PP (HypoPP2) Hipokalemik PP (HypoPP2)
Paramyotonia congenita Paramyotonia congenita
Calcium channel Kalsium
channel
Hypokalemic PP (HypoPP1) Hipokalemik PP (HypoPP1)
Potassium channel Kaliumsaluran
Andersen-Tawil syndrome Andersen-Tawil syndromeHyperkalemic PP or hypokalemic PP* Hyperkalemic PP atau PP
hipokalemik *
*The deficit was described in 2 small families and has not been substantiated by others.,
*Defisit tersebut dijelaskan dalam 2 keluarga kecil dan belum dibuktikan oleh orang lain.
1 , 2
The physiologic basis of flaccid weakness is inexcitability of the muscle membrane (ie,sarcolemma). Dasar fisiologis dari kelemahan lembek adalah inexcitability dari selaput otot
(yaitu, sarcolemma). Alteration of serum potassium level is not the principal defect in primary
PP; the altered potassium metabolism is a result of the PP. Perubahan kadar serum kalium
bukanlah cacat utama dalam PP primer; metabolisme kalium berubah adalah hasil dari PP
tersebut. In primary and thyrotoxic PP, flaccid paralysis occurs with relatively small changes inthe serum potassium level, whereas in secondary PP, serum potassium levels are markedly
abnormal. Dalam PP primer dan thyrotoxic, flaccid paralysis terjadi dengan perubahan yangrelatif kecil di tingkat kalium serum, sedangkan di PP sekunder, kadar kalium serum yang nyata
abnormal.
No single mechanism is responsible for this group of disorders. Tidak ada mekanisme tunggal
bertanggung jawab untuk kelompok gangguan. Thus, they are heterogeneous but share some
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common traits. Dengan demikian, mereka heterogen namun berbagi beberapa ciri umum. The
weakness usually is generalized but may be localized. Kelemahan biasanya umum tetapi bisa
dilokalisasi. Cranial musculature and respiratory muscles usually are spared. Cranial otot danpernapasan otot biasanya diselamatkan. Stretch reflexes are either absent or diminished during
the attacks. Stretch refleks baik tidak ada atau berkurang selama serangan. The muscle fibers are
electrically inexcitable during the attacks. Serat otot elektrik inexcitable selama serangan.Muscle strength is normal between attacks but, after a few years, some degree of fixed weaknessdevelops in certain types of PP (especially primary PP). kekuatan otot adalah normal antara
serangan tetapi, setelah beberapa tahun, beberapa derajat kelemahan tetap berkembang di
beberapa jenis PP (PP terutama primer). All forms of primary PP (except Becker myotoniacongenita [MC]) are either autosomal dominant inherited or sporadic (most likely arising from
point mutations). Semua bentuk PP primer (kecuali myotonia congenita Becker [MC]) baik
autosomal dominan warisan atau sporadis (yang paling mungkin timbul dari mutasi titik).
Voltage-sensitive ion channels closely regulate generation of action potentials (brief and
reversible alterations of the voltage of cellular membranes). saluran ion Voltage-sensitif erat
mengatur potensi generasi tindakan (perubahan singkat dan reversibel dari tegangan membranselular). These are selectively and variably permeable ion channels. Ini adalah selektif dan
variabel saluran ion permeabel. Energy-dependent ion transporters maintain concentrationgradients. transporter ion Energi-tergantung mempertahankan gradien konsentrasi. During thegeneration of action potentials, sodium ions move across the membrane through voltage-gated
ion channels. Selama generasi potensial aksi, ion natrium bergerak melintasi membran melalui
saluran tegangan-gated ion. The resting muscle fiber membrane is polarized primarily by themovement of chloride through chloride channels and is repolarized by movement of potassium.
Membran serat otot istirahat terpolarisasi terutama oleh pergerakan klorida melalui saluran
klorida dan repolarized oleh pergerakan kalium. Sodium, chloride, and calcium channelopathies,
as a group, are associated with myotonia and PP. Natrium, klorida, dan kalsium channelopathies,sebagai kelompok, yang berhubungan dengan myotonia dan PP. The functional subunits of
sodium, calcium, and potassium channels are homologous. Sub-unit fungsional natrium, kalsium,
dan saluran kalium yang homolog. Sodium channelopathies are better understood than calcium
or chloride channelopathies. Sodium channelopathies lebih baik dipahami daripadachannelopathies kalsium atau klorida. All forms of familial PP show the final mechanistic
pathway involving aberrant depolarization, inactivating sodium channels, and muscle fiber
inexcitability. Semua bentuk PP keluarga menunjukkan jalur depolarisasi mekanistik akhirmelibatkan menyimpang, menonaktifkan saluran natrium, dan inexcitability serat otot.
Discussion in this article primarily addresses the sodium, calcium, and potassium
channelopathies as well as secondary forms of PP. Pembahasan dalam artikel ini terutama alamat
natrium, kalsium, dan kalium channelopathies serta bentuk sekunder PP. Chloride
channelopathies are not associated with episodic weakness and are discussed in more detail inthe articles on myotonic disorders. channelopathies Klorida tidak berhubungan dengan
kelemahan episodik dan dibahas secara lebih rinci dalam artikel di gangguan myotonic.
Muscle sodium channel geneOtot saluran natrium gen
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The sodium channel has an alpha subunit and a beta subunit. Saluran natrium memiliki subunit
alfa dan subunit beta. The alpha subunit of the sodium channel is a 260-kd glycoprotein
comprising about 1800-2000 amino acids. Subunit alfa saluran natrium adalah glikoprotein 260-kd terdiri sekitar 1800-2000 asam amino. This channel is highly conserved evolutionarily from
Drosophila to human. Saluran ini sangat kekal evolusi dariDrosophila ke manusia. It has 4
homologous domains (I-IV) that fold to form a central pore, each with 225-325 amino acids. Iamemiliki 4 homolog domain (I-IV) yang flip untuk membentuk pori-pori pusat, masing-masingdengan 225-325 asam amino. Each domain consists of 6 hydrophobic segments (S1-S6)
traversing the cell membrane. Setiap domain terdiri dari 6 segmen hidrofobik (S1-S6) melintasi
membran sel. The main functions of the channel include voltage-sensitive gating, inactivation,and ion selectivity. Fungsi utama saluran termasuk gating tegangan-sensitif, inaktivasi, dan
selektivitas ion. The extracellular loop between S5 and S6 dips into the plasma membrane and
participates in the formation of the pore. Loop ekstraseluler antara S5 dan S6 dips ke dalam
membran plasma dan berpartisipasi dalam pembentukan pori-pori. The S4 segment containspositively charged amino acids at every third position and functions as a voltage sensor. Segmen
S4 mengandung asam amino yang bermuatan positif pada setiap posisi ketiga dan fungsi sebagai
sensor tegangan. Conformation changes may occur during depolarization, resulting in activationand inactivation of the channel. perubahan konformasi mungkin terjadi selama depolarisasi,
mengakibatkan aktivasi dan inaktivasi saluran. The cellular loop between domain III-S6 and
domain IV-S1 acts as an inactivating gate. Loop selular antara domain III-S6 dan bertindak
domain IV-S1 sebagai gerbang menonaktifkan.
The sodium channel has 2 gates (activation and inactivation) and can exist in 3 states. Salurannatrium memiliki 2 gerbang (aktivasi dan inaktivasi) dan dapat ada di 3 negara bagian. At rest
with the membrane polarized, the activation gate is closed and the inactivation gate is opened.
Saat istirahat dengan membran terpolarisasi, aktivasi gerbang ditutup dan gerbang inaktivasi
dibuka. With depolarization, the activation gate opens, allowing sodium ions to pass through theion channel and also exposing a docking site for the inactivation gate. Dengan depolarisasi,
gerbang aktivasi terbuka, yang memungkinkan ion natrium melewati saluran ion dan juga
memperlihatkan sebuah situs docking untuk gerbang inaktivasi. With continued depolarization,
the inactivation gate closes, blocking the entry of sodium into the cell and causing the channel toenter the fast-inactivation state. Dengan depolarisasi melanjutkan, gerbang inaktivasi menutup,
menghalangi masuknya natrium ke dalam sel dan menyebabkan saluran untuk memasuki negara
cepat-inaktivasi. This inactivation of the channel allows the membrane to become repolarized,resulting in a return to the resting state with the activation gate closed and the inactivation gate
opened. Inaktivasi ini memungkinkan membran saluran untuk menjadi repolarized, sehingga
kembali ke keadaan istirahat dengan aktivasi gerbang ditutup dan gerbang inaktivasi dibuka.
Two inactivation processes occur in mammalian skeletal muscle: Fast inactivation involvesterminating the action potential and acts on a millisecond time scale. Dua proses inaktivasi
terjadi pada otot rangka mamalia: inaktivasi Cepat melibatkan mengakhiri potensial aksi dan
bertindak pada skala waktu milidetik. Slow inactivation takes seconds to minutes and canregulate the population of excitable sodium channels. inaktivasi Lambat memerlukan beberapa
detik untuk menit dan dapat mengatur populasi saluran natrium bersemangat.
Sodium channel mutations that disrupt fast and slow inactivation are usually associated with a
phenotype of HyperPP and myotonia, where as mutations that enhance slow or fast inactivation
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producing loss of sodium channel function cause HypoPP. mutasi yang mengganggu saluran
Natrium inaktivasi cepat dan lambat biasanya berhubungan dengan fenotip HyperPP dan
myotonia, sedangkan mutasi yang meningkatkan inaktivasi lambat atau cepat menghasilkanhilangnya fungsi saluran natrium menyebabkan HypoPP.
Mutations of the sodium channel gene ( SCN4A ) have several general features. Mutasi gensaluran natrium (SCN4A) memiliki beberapa fitur umum. Most of the mutations are in the"inactivating" linker between repeats III and IV, in the "voltage-sensing" segment S4 of repeat
IV or at the inner membrane where they could impair the docking site for the inactivation gate.
Sebagian besar mutasi berada di linker "menonaktifkan" antara mengulangi III dan IV, di S4segmen "tegangan-sensing" dari mengulang IV atau pada membran dalam mana mereka bisa
merusak situs docking untuk gerbang inaktivasi. The clinical phenotype differs by specific amino
acid substitution and, while some overlap may occur between hyperkalemic PP, paramyotonia
congenita (PC), and potassium-aggravated myotonias (PAM), the 3 phenotypes are generallydistinct (as described below). Fenotip klinis berbeda dengan substitusi asam amino dan spesifik,
sementara beberapa tumpang tindih mungkin terjadi antara PP hyperkalemic, congenita
paramyotonia (PC), dan potasium-diperparah myotonias (PAM), 3 fenotip umumnya berbeda(seperti yang dijelaskan di bawah). Nearly all mutant channels have impaired fast-inactivation of
sodium current. Hampir semua saluran mutan merugikan cepat-inaktivasi natrium saat ini. Most
patients are sensitive to systemic potassium or to cold temperature. Kebanyakan pasien yang
sensitif terhadap kalium sistemik atau suhu dingin.
Two populations of channels exist, mutant and wild-type; the impaired fast-inactivation results inprolonged depolarization of the mutant muscle fiber membranes and can explain the 2 cardinal
symptoms of these disorders, myotonia and weakness. Dua populasi saluran ada, mutan dan wild
type, cepat-inaktivasi hasil terganggu pada depolarisasi berkepanjangan dari membran serat otot
mutan dan dapat menjelaskan gejala kardinal 2 myotonia ini, gangguan dan kelemahan. Inhyperkalemic PP, a gain of function occurs in mutant channel gating, resulting in an increased
sodium current excessively depolarizing the affected muscle. Dalam PP hyperkalemic,
keuntungan fungsi terjadi pada saluran gating mutan, yang mengakibatkan natrium meningkat
saat ini berlebihan depolarizing otot terpengaruh. Mild depolarization (5-10 mV) of the myofibermembrane, which may be caused by increased extracellular potassium concentrations, results in
the mutant channels being maintained in the noninactivated mode. Depolarisasi ringan (5-10
mV) dari membran myofiber, yang mungkin disebabkan oleh meningkatnya konsentrasi kaliumekstraseluler, hasil dalam saluran mutan dipertahankan dalam modus noninactivated. The
persistent inward sodium current causes repetitive firing of the wild-type sodium channels,
which is perceived as stiffness (ie, myotonia). Natrium batin terus-menerus saat ini menyebabkan
pembakaran berulang-ulang dari saluran sodium wild type, yang dianggap sebagai kekakuan(yaitu, myotonia).
If a more severe depolarization (20-30 mV) is present, both normal and abnormal channels are
fixed in a state of inactivation, causing weakness or paralysis. Jika depolarisasi lebih parah (20-
30 mV) hadir, baik saluran normal dan abnormal adalah tetap dalam keadaan inaktivasi,
menyebabkan kelemahan atau kelumpuhan. Thus, subtle differences in severity of membranedepolarization may make the difference between myotonia and paralysis. Dengan demikian,
perbedaan yang halus dalam keparahan depolarisasi membran dapat membuat perbedaan antara
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myotonia dan kelumpuhan. Temperature sensitivity is a hallmark of PC. sensitivitas Suhu adalah
tanda dari PC. Cold exacerbates myotonia and induces weakness. Dingin memperparah myotonia
dan menginduksi kelemahan. A number of mutations are associated with this condition, 3 ofthem at the same site (1448) in the S4 segment. Sejumlah mutasi yang terkait dengan kondisi ini,
3 dari mereka di tempat yang sama (1448) di segmen S4. These mutations replace arginine with
other amino acids and neutralize this highly conserved S4 positive charge. Mutasi ini menggantiarginine dengan asam amino lain dan menetralisir muatan positif yang sangat lestari S4.Mutations of these residues are the most common cause of PC. Mutasi residu ini merupakan
penyebab paling umum PC. Some of the possible mechanisms responsible for temperature
sensitivity include the following: Beberapa mekanisme yang mungkin bertanggung jawab untuksensitivitas temperatur antara lain meliputi:
Temperature may differentially affect the conformational change in the mutant channel.Diferensial suhu dapat mempengaruhi perubahan konformasi dalam saluran mutan.
Lower temperatures may stabilize the mutant channels in an abnormal state. Turunkansuhu dapat menstabilkan saluran mutan dalam keadaan normal.
Mutations may alter the sensitivity of the channel to other cellular processes, such asphosphorylation or second messengers. Mutasi dapat mengubah sensitivitas saluran ke
proses seluler lain, seperti fosforilasi atau utusan kedua.
Most cases of hyperkalemic PP are due to 2 mutations in SCN4A, T704M, andM1592V.
Mutations in the sodium channel, especially at residues 1448 and 1313, are responsible for
paramyotonia congenita. Kebanyakan kasus PP hyperkalemic disebabkan oleh 2 mutasi dalamSCN4A, T704M, danM1592V. Mutasi di saluran natrium, terutama pada residu 1448 dan 1313,
bertanggung jawab untuk congenita paramyotonia. A small proportion of hypokalemic periodic
paralysis cases are associated with mutations at codons 669 and 672 (HypoPP2). Sebagian kecildari hipokalemik kasus paralisis periodik berhubungan dengan mutasi pada kodon 669 dan 672
(HypoPP2). In HypoPP2, sodium channel mutations enhance inactivation to produce a net loss of
function defect. Dalam HypoPP2, natrium meningkatkan saluran inaktivasi mutasi untuk
menghasilkan rugi bersih sebesar cacat fungsi.
Calcium channel geneKalsium channel gen
The calcium channel gene ( CACNL1A3 ) is a complex of 5 subunits (alpha-1, alpha-2, beta,
gamma, and delta). Saluran kalsium gen (CACNL1A3) adalah kompleks dari 5 subunit (alpha-1,alfa-2, beta, gamma, dan delta). The skeletal muscle dihydropyridine (DHP) receptor is located
primarily in the transverse tubular membrane. The dihydropyridine otot rangka (DHP) reseptor
terletak terutama di membran tubular melintang. The alpha-1 subunit has binding sites for DHP
drugs and conducts the slow L-type calcium current. The alfa-1 subunit memiliki situs mengikatbagi obat DHP dan melakukan kalsium L-tipe lambat saat ini. It also participates in excitation-
contraction (EC) coupling and acts as a voltage sensor through its linkage with the ryanodine
receptor of sarcoplasmic reticulum (ie, calcium release channel). Hal ini juga berpartisipasi
dalam eksitasi-kontraksi (EC) kopling dan bertindak sebagai sensor tegangan melalui keterkaitandengan reseptor ryanodine dari retikulum sarkoplasma (yaitu, kalsium saluran pelepasan). Any
changes in the membrane potential are linked to intracellular calcium release, enabling EC
coupling. Setiap perubahan dalam potensial membran terkait untuk melepaskan kalsium
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intraseluler, sehingga kopling EC. Point mutations in DHP receptor/calcium channel alpha-1
subunit cause hypokalemic PP (HypoPP1). Point mutasi pada reseptor DHP / kalsium alpha
channel-1 menyebabkan subunit hipokalemik PP (HypoPP1). Two mutations ofCACNA1Sgene,R528H and R1239H, are responsible for most cases of hypokalemic PP. Dua mutasi gen
CACNA1S, R528H dan R1239H, bertanggung jawab atas sebagian besar kasus PP hipokalemik.
The physiological basis of disease is still not understood, but is more likely due to a failure of
excitation rather than a failure of EC coupling. Dasar fisiologis dari penyakit ini masih belum
dimengerti, tapi lebih cenderung karena kegagalan eksitasi daripada kegagalan kopling EC.However, hypokalemia-induced depolarization may reduce calcium release, affecting the voltage
control of the channel directly or indirectly through inactivation of the sodium channel. Namun,
hipokalemia-depolarisasi induced dapat mengurangi pelepasan kalsium, mempengaruhi kontrol
tegangan pada saluran secara langsung atau tidak langsung melalui inaktivasi saluran natrium.Insulin and adrenaline may act in a similar manner. Insulin dan adrenalin bisa bertindak dengan
cara yang sama. Mutations of the calcium channel gene have some similarities to SCN4A
mutations. Mutasi gen calcium channel memiliki beberapa kesamaan dengan mutasi SCN4A.
Mutations modify channel inactivation but not voltage-dependent activation. Mutasimemodifikasi inaktivasi channel tetapi tidak tergantung pada tegangan aktivasi. Recordings from
myotube cultures from affected patients revealed a 30% reduction in the DHP-sensitive L-typecalcium current. Rekaman dari budaya myotube dari pasien yang terkena menunjukkanpenurunan 30% dalam kalsium tipe L-DHP-sensitif saat ini. Channels are inactivated at low
membrane potentials. Saluran yang tidak aktif pada potensial membran rendah.
Calcium channel mutations cause a loss of function manifested as a reduced current density and
slower inactivation. mutasi saluran Kalsium menyebabkan hilangnya fungsi diwujudkan sebagai
densitas arus berkurang dan inaktivasi lambat. How this inactivation is related to hypokalemia-induced attacks is not understood. Bagaimana inaktivasi hal ini berkaitan dengan hipokalemia-
serangan induksi tidak dipahami. At least inR528Hmutation, a possible secondary
channelopathy occurs, tied to a reduction in the ATP-sensitive potassium current from altered
calcium homeostasis. Setidaknya dalam mutasiR528H, sebuah channelopathy sekunder yangmungkin terjadi, terkait dengan penurunan sensitif kalium ATP arus dari homeostasis kalsium
diubah. The lower currents associated with CACNL1A3 mutations could slightly alter
intracellular calcium homeostasis, which could affect the properties and expression of K+
channels, particularly KATP (ATP-sensitive potassium channel) belonging to inward rectifier
class of channels. Arus bawah yang terkait dengan mutasi CACNL1A3 sedikit bisa mengubah
homeostasis kalsium intraselular, yang dapat mempengaruhi sifat dan ekspresi K+
channel,khususnya KATP (sensitif saluran-kalium ATP) milik kelas penyearah ke dalam saluran. Insulin
also acts in HypoPP by reducing this inward rectifier K+
current. Insulin juga bertindak dalam
HypoPP dengan mengurangi penyearah ini ke dalam K+
saat ini.
Voltage sensor charge loss accounts for most cases of HypoPP. Tegangan sensor account rugi
biaya untuk sebagian besar kasus HypoPP. Sodium and calcium channels have homologous
pore-forming alfa subunits. Natrium dan saluran kalsium telah subunit alfa homolog pori-
membentuk. Point mutations in CACNL1A3 and SCN4A affect argentine residues in the S4voltage sensors of these channels. mutasi Point di CACNL1A3 dan SCN4A mempengaruhi residu
Argentina di sensor tegangan S4 dari saluran ini. Arginine mutations in S4 segments are
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responsible for 90% of HypoPP cases.3mutasi Arginine di segmen S4 bertanggung jawab untuk
90% kasus HypoPP.3
Glucocorticosteroids cause HypoPP by stimulating Na+
K+
ATPase mediated by insulin and
amylin.4Glukokortikosteroid menyebabkan HypoPP dengan merangsang Na
+K
+ATPase
dimediasi oleh insulin dan amylin.
4
Potassium channel geneKalium saluran gen
Potassium channel mutations are seen in Andersen-Tawil syndrome. mutasi saluran Kalium
terlihat pada sindrom Andersen-Tawil. The triad of dysmorphic features, periodic paralysis, and
cardiac arrhythmias characterizes Andersen-Tawil syndrome. Tiga serangkai fitur dismorfik,
paralisis periodik, dan aritmia jantung ciri sindrom Andersen-Tawil. This syndrome is associatedwith mutations in theKCNJ2 gene.
5TheKCNJ2 gene encodes the inward-rectifying potassium
channel Kir2.1. Sindrom ini dikaitkan dengan mutasi pada genKCNJ2.5GenKCNJ2
mengkodekan kalium perbaikan saluran-ke dalam Kir2.1. Potassium channel mutations in
KCNE3 are reported to cause hypokalemic PP, but this has not been substantiated. mutasi saluranKalium dalamKCNE3 dilaporkan menyebabkan PP hipokalemik, tetapi hal ini belum
dibuktikan.
Frequency Frekuensi
United States Amerika Serikat
The frequencies of hyperkalemic periodic paralysis, paramyotonia congenita (PC), and
potassium-aggravated myotonias (PAM) are not known. Frekuensi kelumpuhan periodikhyperkalemic, congenita paramyotonia (PC), dan-kalium myotonias diperburuk (PAM) tidak
diketahui. Hypokalemic periodic paralysis has a prevalence of 1 case per 100,000 population.hipokalemik paralisis periodik memiliki prevalensi 1 kasus per 100.000 penduduk.
International Internasional
Not known Tidak diketahui
Race Ras
Thyrotoxic PP is most common in males (85%) of Asian descent with a frequency of
approximately 2%. Thyrotoxic PP adalah paling umum pada laki-laki (85%) dari keturunan Asia
dengan frekuensi sekitar 2%.
Clinical Klinis
History Sejarah
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All periodic paralyses (PPs) are characterized by episodic weakness. Semua melumpuhkan
periodik (PP) yang ditandai dengan kelemahan episodik. Strength is normal between attacks.
Kekuatan normal diantara serangan. Fixed weakness may develop later in some forms.kelemahan tetap dapat berkembang kemudian dalam beberapa bentuk. Most patients with
primary PP develop symptoms before the third decade. Kebanyakan pasien dengan PP primer
mengalami gejala sebelum dasawarsa ketiga.
Hyperkalemic periodic paralyses Hyperkalemic periodik melumpuhkano Age at onset is younger than 10 years. Umur saat onset lebih muda dari 10 tahun.
Patients usually describe a sense of heaviness or stiffness in the muscles. Pasien
biasanya menggambarkan rasa berat atau kekakuan pada otot. Weakness starts in
the thighs and calves, which then spreads to arms and neck. Kelemahan dimulai
pada paha dan betis, yang kemudian menyebar ke lengan dan leher. Proximalweakness predominates; distal muscles may become involved after vigorous
exercise. kelemahan proksimal mendominasi; otot distal dapat menjadi terlibat
setelah olahraga berat.
oIn children, a myotonic lid lag (lagging of upper eyelid on downward gaze) maybe the earliest symptom. Pada anak-anak, sebuah lag tutup myotonic (tertinggal
dari kelopak mata atas pada pandangannya ke bawah) mungkin gejala awal.Complete paralysis is rare and some residual mobility remains. kelumpuhanLengkap jarang dan beberapa mobilitas sisa tetap. Respiratory muscle
involvement is rare. Keterlibatan otot pernapasan jarang. The attacks last less than
4 hours and in the majority of cases, less than 1 hour. Serangan terakhir kurangdari 4 jam dan dalam sebagian besar kasus, kurang dari 1 jam. Sphincters are not
involved; any bowel and bladder dysfunction is due to abdominal muscle
weakness. Sphincters tidak terlibat, setiap disfungsi usus dan kandung kemih
disebabkan kelemahan otot perut.
o Weakness occurs during rest after a period of strenuous exercise or during fasting.Kelemahan terjadi selama beristirahat setelah periode latihan berat atau selama
puasa. It also may be provoked by potassium, cold, ethanol, or stress. Mungkin
juga terprovokasi oleh kalium, dingin, ethanol, atau stres. It may be relieved bymild prolonged exercise or carbohydrate intake. Ini mungkin lega dengan latihan
ringan atau berkepanjangan asupan karbohidrat. Patients also may report muscle
pains and paresthesias. Pasien juga dapat melaporkan nyeri otot dan parestesia.Between attacks, clinical and electrical myotonia is present in the majority of
patients. Antara serangan, myotonia klinis dan listrik hadir pada sebagian besar
pasien. Some families have no myotonia. Beberapa keluarga memiliki myotonia
tidak. Clinically apparent myotonia is seen less than 20% of patients, butelectrical myotonia may be found in 50-75%. Myotonia klinis jelas terlihat kurang
dari 20% pasien, tetapi myotonia listrik dapat ditemukan pada 50-75%. Interictal
weakness, if present, is not as severe as in hypokalemic PP. Interictal kelemahan,jika ada, tidak begitu parah seperti di PP hipokalemik.
Hypokalemic periodic paralyses Hipokalemik periodik melumpuhkano This can be divided into HypoPP1 (calcium channel mutation) and HypoPP2
(sodium channel mutation). Hal ini dapat dibagi menjadi HypoPP1 (mutasi
saluran kalsium) dan HypoPP2 (mutasi natrium channel).
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o Severe cases present in early childhood and mild cases may present as late as thethird decade. kasus berat hadir dalam anak usia dini dan kasus-kasus ringan dapat
hadir hingga akhir dekade ketiga. A majority of cases present before age 16 years.Sebagian besar kasus ini sebelum usia 16 tahun. Weakness may range from slight
transient weakness of an isolated muscle group to severe generalized weakness.
Kelemahan bisa berkisar dari kelemahan transient sedikit kelompok otot terisolasiuntuk kelemahan umum yang parah. Severe attacks begin in the morning, oftenwith strenuous exercise or a high carbohydrate meal on the preceding day.
serangan berat mulai di pagi hari, seringkali dengan latihan berat atau makan
karbohidrat yang tinggi pada hari sebelumnya. Sometimes, the time betweenpremonitory symptoms to full-blown attack is in order of minutes. Kadang-
kadang, waktu antara gejala pertanda untuk menyerang besar-besaran adalah
dalam rangka menit. Attacks may also be provoked by stress, including infections,
menstruation, lack of sleep, and certain medications (eg, beta-agonists, insulin,corticosteroids). Serangan juga dapat dipicu oleh stres, termasuk infeksi,
menstruasi, kurang tidur, dan obat-obatan tertentu (misalnya, beta-agonis, insulin,
kortikosteroid). Patients wake up with severe symmetrical weakness, often withtruncal involvement. Pasien bangun dengan kelemahan simetris parah, seringkali
dengan keterlibatan truncal.
o Mild attacks are frequent and involve only a particular group of muscles, and maybe unilateral, partial, or monomelic. serangan ringan sering terjadi dan hanyamelibatkan kelompok tertentu otot, dan mungkin sepihak, parsial, atau
monomelic. This may affect predominantly legs; sometimes, extensor muscles are
affected more than flexors. Hal ini dapat mempengaruhi terutama kaki, kadang-kadang, otot ekstensor dipengaruhi lebih dari fleksor. Duration varies from a few
hours to almost 8 days but seldom exceeds 72 hours. Jangka waktu bervariasi dari
beberapa jam sampai hampir 8 hari tapi jarang melebihi 72 jam. The attacks are
intermittent and infrequent in the beginning but may increase in frequency untilattacks occur almost daily. Serangan yang intermiten dan jarang pada awalnya
tetapi mungkin peningkatan frekuensi sampai serangan terjadi hampir setiap hari.
The frequency starts diminishing by age 30 years; it rarely occurs after age 50years. Frekuensi mulai berkurang pada usia 30 tahun, itu jarang terjadi setelah
usia 50 tahun.
o Urinary output is decreased during the attack because water accumulatesintracellularly in muscles. keluaran urin menurun selama serangan karena air
terakumulasi intrasel pada otot. In HypoPP1 patients, the age of onset is earlier
(10 y), the symptoms lasts longer (20 h), and the fixed proximal weakness is more
frequent (about 70%), compared with HypoPP2 patients (16 y, 1 h, none). Padapasien HypoPP1, usia onset yang lebih awal (10 y), gejala-gejala berlangsung
lama (20 jam), dan kelemahan proksimal tetap lebih sering (sekitar 70%),
dibandingkan dengan pasien HypoPP2 (16 y, 1 jam, tidak ada ).
o Permanent muscle weakness may be seen later in the course of the disease andmay become severe. Tetap kelemahan otot dapat dilihat kemudian dalam
perjalanan penyakit dan bisa menjadi berat. Hypertrophy of the calves has been
observed. Hipertrofi dari betis telah diamati. Proximal muscle wasting, rather thanhypertrophy, may be seen in patients with permanent weakness. Wasting
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proksimal otot, daripada hipertrofi, dapat dilihat pada pasien dengan kelemahan
permanen.
o HypoPP2 differs from HypoPP1 by (1) late onset, (2) tubular aggregates inmuscle biopsy (vacuolar myopathy in HypoPP1), (3) aggravation by
acetazolamide in HypoPP2. HypoPP2 berbeda dari HypoPP1 oleh (1) terlambat
onset, (2) agregat tubular di biopsi otot (miopati vacuolar di HypoPP1), (3)kejengkelan oleh acetazolamide di HypoPP2.
Paramyotonia congenita Paramyotonia congenitao In this autosomal dominant inherited disorder, myotonia worsens with activity
(paradoxical myotonia) or cold temperatures. Dalam gangguan ini diwariskanautosomal dominan, myotonia memburuk dengan aktivitas (myotonia paradoks)
atau suhu dingin.
o Symptoms are most pronounced in the face, tongue, and hand muscles with lesserinvolvement of lower limb. Gejala yang paling diucapkan dalam lidah, wajah, danotot tangan dengan keterlibatan yang lebih rendah dari tungkai bawah.
o Muscle hypertrophy may be seen in 30% of patients. Hipertrofi otot dapat dilihatpada 30% pasien.
o Myotonia lasts for seconds to minutes, but weakness may persist for hours andsometimes days. Myotonia berlangsung selama detik untuk menit, namun
kelemahan dapat bertahan selama berjam-jam dan kadang-kadang hari. Frequency
of paralytic attacks declines with age. Frekuensi menurun serangan lumpuhdengan usia.
o Permanent and severe myopathy is more frequent in patients with periodicparalysis. Permanen dan parah miopati lebih sering pada pasien dengankelumpuhan periodik.
o Episodic weakness also may develop after exercise or cold temperatures andusually lasts only a few minutes, but may last as long as days. kelemahan
Episodic juga dapat berkembang setelah suhu latihan atau dingin dan biasanyaberlangsung hanya beberapa menit, namun dapat berlangsung selama hari.
o Potassium loading usually worsens the symptoms, but in some cases, lowering theserum potassium level precipitates the attacks. loading Kalium biasanyamemperburuk gejala, tetapi dalam beberapa kasus, menurunkan tingkat serum
kalium presipitat serangan.
Thyrotoxic periodic paralyses Thyrotoxic periodik melumpuhkano Thyrotoxicosis periodic paralyses (TPP) are the most common secondary
hypokalemic PP. melumpuhkan Thyrotoxicosis periodik (TPP) adalah PP yang
paling umum hipokalemik sekunder. TPP is most common in adults aged 20-40
years. TPP yang paling umum pada orang dewasa berusia 20-40 tahun.Hyperinsulinemia, a carbohydrate load, and exercise are important in precipitating
paralytic attacks. Hyperinsulinemia, beban karbohidrat, dan latihan yang penting
dalam mempercepat serangan paralitik. Weakness is proximal and, if severe, may
involve respiratory or bulbar muscles. Kelemahan proksimal dan, jika parah,mungkin melibatkan otot pernafasan atau yg berhubungan dgn bengkak. Attacks
last hours to days. Serangan terakhir jam untuk hari.
o The prevalence of TPP in patients with thyrotoxicosis is estimated to be 0.1-0.2%in Caucasians and 13-14% in Chinese. Prevalensi TPP pada pasien dengan
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tirotoksikosis diperkirakan 0,1-0,2% di Kaukasia dan 13-14% di Cina. Ninety-five
percent of TPP cases are sporadic. Sembilan puluh lima persen kasus TPP yang
sporadis. As TPP is more common in Asians, a genetic predisposition is stronglysuspected. Seperti TPP lebih umum di Asia, kecenderungan genetik diduga kuat.
Familial clustering of TPP indicates unmasking of an inherited disease (which is
sporadic) by thyrotoxicosis. clustering Familial dari TPP menunjukkanunmasking dari penyakit warisan (yang sporadis) dengan tirotoksikosis. Amutation inKCNE3 potassium channel gene was identified in one series.
6Sebuah
mutasi dalam gen saluran kaliumKCNE3 diidentifikasi dalam satu seri.6
Andersen-Tawil syndrome Andersen-Tawil syndromeo Andersen-Tawil syndrome is characterized by variable expression of the triad of
dysmorphic features, periodic paralysis, and cardiac arrhythmias. Andersen-Tawil
syndrome ditandai oleh variabel ekspresi tiga serangkai fitur dismorfik, paralisis
periodik, dan aritmia jantung. Patients may have short stature, hypertelorism, low-set ears, micrognathia, fifth finger clinodactyly, and scoliosis. Pasien mungkin
memiliki perawakan pendek, hypertelorism, telinga rendah-set, micrognathia, jari
kelima clinodactyly, dan scoliosis. Episodic weakness lasting a few hours toseveral days may arise spontaneously but usually follows physical activity.
kelemahan Episodic berlangsung beberapa jam sampai beberapa hari mungkin
timbul secara spontan tetapi biasanya mengikuti aktivitas fisik. The periodic
paralysis is not associated with myotonia. Kelumpuhan periodik tidak terkaitdengan myotonia.
o Prolonged QT interval and ventricular arrhythmias are the most common cardiacmanifestations. Berkepanjangan QT interval dan ventrikel aritmia adalahmanifestasi jantung yang paling umum. Other ECG abnormalities include PVCs,
ventricular bigeminy, supraventricular and ventricular tachycardias, prominent U
waves, and torsades de pointes. kelainan EKG lainnya termasuk PVC, bigeminy
ventrikel, tachycardias supraventrikuler dan ventrikel, menonjol U gelombang,dan de torsades pointes. Bidirectional ventricular tachycardia, which is
characterized by beat-to-beat alternating QRS axis polarity, is unique to a subset
of patients. takikardia ventrikel dua arah, yang ditandai dengan memukul-to-beatbolak sumbu QRS polaritas, adalah unik untuk subset dari pasien. Patients may be
completely asymptomatic. Pasien mungkin sama sekali tanpa gejala. Patients may
experience palpitations, syncopal episodes, and cardiac arrest. Pasien mungkinmengalami palpitasi, episode syncopal, dan serangan jantung. Sudden cardiac
death is less frequent in ATS when compared with the other long QT syndromes.
kematian mendadak jantung kurang sering di ATS bila dibandingkan dengan
sindrom QT panjang lainnya.
o Andersen-Tawil syndrome should always be considered in any patient withperiodic paralysis as facial dysmorphism may be subtle and cardiac symptoms are
not always present in spite of an abnormal ECG. Andersen-Tawil syndrome harus
selalu dipertimbangkan dalam setiap pasien dengan kelumpuhan periodik sebagaidysmorphism wajah mungkin gejala halus dan jantung tidak selalu hadir
meskipun EKG abnormal.
Physical Fisik
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Most of the patients with a periodic paralysis (PP) have similar clinical features, which are as
follows: Sebagian besar pasien dengan kelumpuhan periodik (PP) memiliki fitur klinis yang
serupa, yang adalah sebagai berikut:
Interictal lid lag and eyelid myotonia - May be the only clinical signs in hyperkalemic PPInterictal tutup lag dan myotonia kelopak mata - Mei menjadi satu-satunya tanda-tandaklinis pada PP hyperkalemic
Normal sensation Normal sensasi Fixed proximal weakness - May develop in patients with either hyperkalemic or
hypokalemic PP kelemahan proksimal Tetap - Mei mengembangkan pada pasien dengan
baik hyperkalemic atau hipokalemik PP
Diminished stretch reflexes during attacks Berkurang refleks peregangan selamaserangan
Table 2. Tabel 2. Distinguishing Features Among the Common Forms of Periodic Paralyses Fitur
Membedakan antara Bentuk umum dari Paralyses Berkala
Opentable in new windowBukatabel di jendela baru
[CLOSE WINDOW] [CLOSE WINDOW]
Table Tabel
Syndrome
SindromaAge of
OnsetAgeof Onset
Duration of
AttackDurasiAttack
Precipitating
Pengendapan
FactorsFaktor-
faktor
Severity of
Attacks
Keparahan
Serangan
Associated
Asosiasi
FeaturesFitur
Hyper-kalemicperiodic
paralyses
Hyper-kalemicperiodik
melumpuhkan
Firstdecade of
life
Pertamadekade
kehidupan
Few minutes toless than 2 h
(mostly less
than 1 h)Beberapa
menit sampai
kurang dari 2jam
(kebanyakan
kurang dari 1
jam)
Lowcarbohydrate
intake (fasting)
Rendah asupankarbohidrat
(puasa)
Cold Dingin
Rest following
exercise Istirahat
Latihan berikut
Alcohol Alkohol
Infection Infeksi
Emotional stress
Rarely severeJarang parah
Perioral and limbparesthesias
Perioral dan
parestesia anggotatubuh
Myotonia frequentMyotonia sering
Occasional
pseudo-
hypertrophy ofmuscles Sesekalipseudo-hipertrofi
otot
7/28/2019 Berkala Paralyses
14/35
Stres emosional
Trauma Trauma
Menstrual period
Periodemenstruasi
Hypo-kalemicperiodic
paralyses
Hypo-kalemicperiodik
melumpuhkan
Variable -Childhood
to third
decadeVariabel-
Anak untuk
dekade
ketiga
Majority ofcasesbefore 16
years
Mayoritaskasus
sebelum 16
tahun
Few hours toalmost a week
Beberapa jam
untuk hampirseminggu
Typically nolonger than 72
h Biasanya
tidak lebih dari72 jam
Early morningattacks after
previous day
physical activityDini hari
serangan setelah
melakukan
aktivitas fisikhari sebelumnya
High-carbohydrate
meal, Chinese
food, alcoholTinggi-
karbohidrat
makan, makananCina, alkohol
Cold, change in
barometricpressure or
humidity Dingin,
perubahantekanan udara
atau kelembaban
Fever, upper
respiratory tractinfections
Demam, infeksi
saluranpernapasan atas
Lack of sleep,
Kurang tidur,fatigue kelelahan
Menstrual cycle
Severe Parah
Completeparalysis
Lengkap
kelumpuhan
Occasionalmyotonic lid lag
Sesekali lag
myotonic tutup
Myotonia between
attacks rareMyotonia antara
serangan langka
Unilateral, partial,
monomelic
Sepihak, parsial,monomelic
Fixed muscleweakness late in
disease kelemahan
otot tetap
terlambat dalam
penyakit
7/28/2019 Berkala Paralyses
15/35
Siklusmenstruasi
Potassium-
associated
myotonia
Kalium terkaitmyotonia
First
decade
Pertama
dekade
No weakness
Tidak ada
kelemahan
Cold Dingin
Rest after
exercise Istirahatsetelah latihan
Attacks of
stiffness can
be mild to
severeSerangan
kekakuan
dapat ringansampai berat
Muscle
hypertrophy Otot
hipertrofi
Para-myotonia
congenita Para-
myotoniacongenita
First
decade
Pertamadekade
2-24 h 2-24 h Cold Dingin Rarely severe
Jarang parah
Pseudo-
hypertrophy of
muscles Pseudo-hipertrofi otot
Paradoxical
myotoniaParadoks
myotonia
Fixed weakness
rare Tetapkelemahan langka
Thyrotoxic
periodic
paralysesThyrotoxic
periodikmelumpuhkan
Third and
fourth
decadesKetiga dan
dekadekeempat
Few hours to 7
d Beberapa
jam untuk 7 d
Same as
hypokalemic PP
Sama seperti PPhipokalemik
Hyper-insulinemia
Hyper-
insulinemia
Same as
hypokalemic
PP Samaseperti PP
hipokalemik
Fixed muscle
weakness may
developkelemahan otot
tetap dapatmengembangkan
Hypokalemia
during attacksHipokalemia saat
serangan
Syndrome
SindromaAge of
OnsetAge
of Onset
Duration of
AttackDurasi
Attack
Precipitating
Pengendapan
FactorsFaktor-faktor
Severity of
Attacks
Keparahan
Serangan
Associated
Asosiasi
FeaturesFitur
Hyper-kalemic
periodicparalyses
Hyper-kalemic
periodikmelumpuhkan
First
decade oflife
Pertama
dekadekehidupan
Few minutes to
less than 2 h(mostly less
than 1 h)
Beberapamenit sampai
kurang dari 2
Low
carbohydrateintake (fasting)
Rendah asupan
karbohidrat(puasa)
Rarely severe
Jarang parah
Perioral and limb
paresthesiasPerioral dan
parestesia anggota
tubuh
Myotonia frequent
7/28/2019 Berkala Paralyses
16/35
jam(kebanyakankurang dari 1
jam)
Cold Dingin
Rest following
exercise Istirahat
Latihan berikut
Alcohol Alkohol
Infection Infeksi
Emotional stress
Stres emosional
Trauma Trauma
Menstrual period
Periodemenstruasi
Myotonia sering
Occasional
pseudo-
hypertrophy of
muscles Sesekalipseudo-hipertrofi
otot
Hypo-kalemicperiodic
paralyses
Hypo-kalemicperiodik
melumpuhkan
Variable -Childhood
to third
decadeVariabel-
Anak untuk
dekade
ketiga
Majority ofcasesbefore 16
years
Mayoritaskasus
sebelum 16
tahun
Few hours toalmost a week
Beberapa jam
untuk hampirseminggu
Typically nolonger than 72
h Biasanya
tidak lebih dari72 jam
Early morningattacks after
previous day
physical activityDini hari
serangan setelah
melakukan
aktivitas fisikhari sebelumnya
High-carbohydrate
meal, Chinese
food, alcoholTinggi-
karbohidrat
makan, makananCina, alkohol
Cold, change in
barometricpressure or
humidity Dingin,
perubahantekanan udaraatau kelembaban
Fever, upper
Severe Parah
Complete
paralysisLengkap
kelumpuhan
Occasionalmyotonic lid lag
Sesekali lag
myotonic tutup
Myotonia between
attacks rareMyotonia antara
serangan langka
Unilateral, partial,
monomelic
Sepihak, parsial,monomelic
Fixed muscleweakness late in
disease kelemahan
otot tetap
terlambat dalam
penyakit
7/28/2019 Berkala Paralyses
17/35
respiratory tractinfectionsDemam, infeksi
saluran
pernapasan atas
Lack of sleep,
Kurang tidur,fatigue kelelahan
Menstrual cycle
Siklus
menstruasi
Potassium-
associatedmyotonia
Kalium terkaitmyotonia
First
decadePertama
dekade
No weakness
Tidak adakelemahan
Cold Dingin
Rest after
exercise Istirahatsetelah latihan
Attacks of
stiffness canbe mild to
severeSerangankekakuan
dapat ringan
sampai berat
Muscle
hypertrophy Otothipertrofi
Para-myotoniacongenita Para-
myotonia
congenita
Firstdecade
Pertama
dekade
2-24 h 2-24 h Cold Dingin Rarely severeJarang parah
Pseudo-hypertrophy of
muscles Pseudo-
hipertrofi otot
Paradoxical
myotoniaParadoks
myotonia
Fixed weakness
rare Tetap
kelemahan langka
Thyrotoxicperiodic
paralyses
Thyrotoxic
periodikmelumpuhkan
Third andfourth
decades
Ketiga dan
dekadekeempat
Few hours to 7d Beberapa
jam untuk 7 d
Same ashypokalemic PP
Sama seperti PP
hipokalemik
Hyper-insulinemia
Hyper-insulinemia
Same ashypokalemic
PP Sama
seperti PP
hipokalemik
Fixed muscleweakness may
develop
kelemahan otot
tetap dapatmengembangkan
Hypokalemiaduring attacks
Hipokalemia saat
serangan
7/28/2019 Berkala Paralyses
18/35
Causes Penyebab
Refer toPathophysiologyandTable 2andTable 3. LihatPatofisiologidanTabel 2danTabel 3.
Diferensial Diagnosa
Acute Inflammatory Demyelinating
PolyradiculoneuropathyPolyradiculoneuropathyinflamasi akut demielinasi
Spinal Cord HemorrhageSpinal Cord
Perdarahan
Cauda Equina and Conus Medullaris Syndromes
Cauda equina dan Conus medullaris Syndromes
Spinal Cord InfarctionSpinal Cord
Infarction
Chronic Inflammatory DemyelinatingPolyradiculoneuropathyPolyradiculoneuropathy
kronis inflamasi demielinasi
Spinal Cord, Topographical andFunctional AnatomySpinal Cord, dan
Fungsional Anatomi Topografi
Guillain-Barre Syndrome in ChildhoodGuillain-Barre Syndrome in Childhood
Spinal Epidural AbscessSpinal EpiduralAbses
Lambert-Eaton Myasthenic SyndromeLambert-Eaton
Sindrom miasthenikMultiple SclerosisMultiple Sclerosis
Myasthenia GravisGravis gravis
Other Problems to Be Considered Masalah lain untuk Be Dianggap
Table 3. Tabel 3. Differential Diagnosis of Secondary Periodic Paralyses Diferensial Diagnosis
Paralyses Berkala Sekunder
Opentable in new windowBukatabel di jendela baru
[CLOSE WINDOW] [CLOSE WINDOW]
Table Tabel
HypokalemicHipokalemik HyperkalemicHyperkalemic
Urinary potassium-wasting syndromes Kencing
kalium-buang sindrom
Hyperaldosteronism Hyperaldosteronism Conn syndrome Conn sindrom Bartter syndrome Bartter sindrom Licorice intoxication Licorice keracunan
Alcohol Alkohol Addison disease Penyakit Addison
Chronic renal failure Gagal ginjal kronis
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Berkala Paralyses
19/35
Hyporeninemic HyporeninemicHypoaldosteronism Hypoaldosteronism
Drugs - Amphotericin B, barium Obat - Amfoterisin
B, barium
Ileostomy with tight stoma Ileostomy
dengan stoma ketat
Renal tubular acidosis Renal tubular asidosis Potassium load Kalium beban
GI potassium-wasting syndromes GI kalium-buangsindrom
Laxative abuse Penyalahgunaan pencahar Severe diarrhea Diare berat
Potassium-sparing diuretics Potassium-sparing diuretic
HypokalemicHipokalemik HyperkalemicHyperkalemic
Urinary potassium-wasting syndromes Kencingkalium-buang sindrom
Hyperaldosteronism Hyperaldosteronism Conn syndrome Conn sindrom Bartter syndrome Bartter sindrom Licorice intoxication Licorice keracunan
Alcohol Alkohol Addison disease Penyakit Addison
Chronic renal failure Gagal ginjal kronisHyporeninemic Hyporeninemic
Hypoaldosteronism Hypoaldosteronism
Drugs - Amphotericin B, barium Obat - Amfoterisin
B, barium
Ileostomy with tight stoma Ileostomy
dengan stoma ketat
Renal tubular acidosis Renal tubular asidosis Potassium load Kalium beban
GI potassium-wasting syndromes GI kalium-buang
sindrom
Laxative abuse Penyalahgunaan pencahar Severe diarrhea Diare berat
Potassium-sparing diuretics Potassium-
sparing diuretic
Table 4. Tabel 4. Differential Diagnosis of Other Entities Causing Acute Generalized Weakness
Diferensial Diagnosis Entitas Lain Menyebabkan Kelemahan Generalized Akut
Opentable in new windowBukatabel di jendela baru
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Table Tabel
DisorderKekacauan Pattern andPola dan
7/28/2019 Berkala Paralyses
20/35
Distribution ofDistribusi
WeaknessKelemahan
Transient ischemic attacks Serangan iskemiktransien
Follow CNS distribution (ie, hemiparetic) Ikutidistribusi SSP (yaitu, hemiparetic)
May have sensory symptoms and signs
Mungkin memiliki gejala sensorik dan tanda-tanda
Sleep attacks Tidur serangan Occur at onset or termination of sleep Terjadi
pada awal atau pemutusan tidur
Last only minutes Terakhir hanya beberapamenit
Myelopathy Myelopathy
Traumatic Trauma Transverse myelitis Melintang myelitis Ischemic Iskemik
Sensory symptoms Sensory gejala
Presence of a sensory level Hadirnya tingkat
sensorikSphincter involvement Sphincter keterlibatan
Myasthenia gravis Myasthenia gravis
Lambert-Eaton myasthenic syndrome Sindrom
Lambert-Eaton miasthenik
Subacute in onset Subakut di awal
Associated autonomic symptoms in LEMS
Asosiasi gejala otonom memiliki kualifikasiHyporeflexia in LEMS Hyporeflexia di
ditempat anda
Abnormal repetitive nerve stimulationAbnormal stimulasi saraf berulang
Presence of distinct antibodies Kehadiran
antibodi yang berbeda
Peripheral neuropathy of acute onset Neuropatiperifer onset akut
Acute inflammatory Inflamasi akutdemyelinating poly-radiculoneuropathydemielinasi poli-radiculoneuropathy
Porphyria Porfiria
Pattern of weakness Pola kelemahanAbsent stretch reflexes Tidak ada stretchrefleks
Toxins Racun
Ciguatera Ciguatera Tetrodotoxin Tetrodotoxin
Clinical presentation Presentasi klinis
DisorderKekacauan Pattern andPola
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