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5.1 UTM > Penyakit Otot Saraf Tepi 1 > Flashcards

Penyakit Otot Saraf Tepi 1 Flashcards

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1
Q

Distrophia Musculorum Progresiva (DMP), patogenesis?

A

Sarcolemma leakage

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2
Q

Miotonia Kongenita (Thomsen disease), patogenesis

A

Muscular membrane hyperexcitability

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3
Q

Distrofia Miotonika, patogenesis?

A

Leakage and Hyperexcitability of the muscular membrane

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4
Q

Miopatia Kongenita -> Floppy Infant, 2 types and patogenesis?

A

-Nemaline Myopathy
-Central Core Myopathy
Patogenesis: Subcellular structural Changes

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5
Q

Familial Periodic Paralysis, patogenesis?

A

Hypoexcitability of the muscular membrane

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6
Q

Penegakan diagnosa myopati (5)

A

-Klinis
-EMG
-Biopsi otot
-Lab darah ( CPK, K plasma)
-Lab Urine (Creatinine, Creatin)

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7
Q

Muscle atrophy vs distrophy
-usia?
-lokasi otot yg menipis?
-fasikulasi?
-otot spastik?
-familial?

A

Tua - Muda
Distal - Proximal
Ada - tidak
Ada - tidak
Non familial - familial

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8
Q

Distrofi otot?

A

Miopati genetik, degenerasi primer otot skelet, reduksi massa sel otot scr gradual mostly akibat nekrosis berulang serabut otot segmental, sel otot digantikan sel lemak di dalam jaringan fibrosa, akibat abnormalitas genetik distrofin

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9
Q

Distrophyn?

A

Protein sitoskeletal di permukaan sitoplasmik membran sarkolema

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10
Q

Distrofi x linked recessive dystrophin defect (2)

A

DMD, BMD

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11
Q

Distrofi autosomal recessive gelang extremitas (2)

A

Scapulohumeral pelvifemoral

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12
Q

Distrofi defek tidak diketahui

A

Scapuloperoneal emery-dreifuss

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13
Q

distrofi autosomal dominant

A

Facioscapulohumeral
Scapuloperoneal
Oculopharyngeal

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14
Q

Duchenne Muscular Dystrophy disebabkan mutasi … pada …

A

mutasi gen distrofin pada lengan pendek kromosom X

laki-laki kena, wanita carrier

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15
Q

DMD clinical manifestations (8)

A

-delayed motor development (sampai 18 bln gbs jalan)
-waddling gait
-lordotic gait
-sukar lari, naik tangga
-tendensi jatuh
-gowers maneuver (saat coba berdiri, pasien memanjat diri sendiri)
-kelemahan dimulai otot proksimal (glutes, iliopsoas, quadriceps femoris, deltoid, triceps, biceps, pecs), otot betis, lengan bawah, tangan terhindar
-hipertrofi betis

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16
Q

DMD stadium akhir, klinis?

A

-kontraktur otot
-kifoscoliosis
-obese
-cachexia

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17
Q

DMD hasil px:
IQ?
lab?

A

IQ rendah
+ cardiomyopathy
Serum creatinin kinase naik
EMG -> miopati
Biopsi -> serabut otot hiperkontraksi, nekrosis segmental, fagositosis

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18
Q

Becker Muscular Dystrophy vs Duchenne Muscular Dystrophy
Usia?
Progresivitas?
IQ?
EKG?

A

Belasan tahun/dewasa - Dari bayi
Progresivitas lambat/stationer - cepat
IQ tinggi - rendah
Normal - kardiomiopati

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19
Q

Penyakit eksitabilitas membran sel tak normal otot skelet (2)

A

Sindroma miotonik dan paralisis periodik

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20
Q

Sindroma miotonik khas?

A

meningkatnya eksitabilitas membran sel otot skelet,

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21
Q

Paralisis periodik khas?

A

kegagalan eksitabilitas membran sel scr episodik

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22
Q

Miotonia?

A

tertundanya relaksasi otot skelet setelah kontraksi volunter maupun o/k listrik maupun o/k mekanik

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23
Q

Miotonia, kekakuan otot tanpa rasa nyeri, ada (5)

A

Myotonia congenita
Myotonia dystrophic
Paramyotonia congenita
Myotonia chondrodystrophic
Hyperkalemic periodic paralysis

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24
Q

Myotonia,
kontraksi otot minimal ->?
kontraksi otot kuat->
diperberat oleh…

A

Tdk terganggu
Otot terkunci saat kontraksi
Dingin, puasa, mens, konsumsi kalium, goncangan emosi

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25
Myotonia px EMG akan menunjukkan gambar ...
Cetusan berulang motor unit potential yang frekuensi dan amplitudo fluktiasi (wax and wane) dan aktivitas insersi meningkat pola suara crescendo-decrescendi -> diver bomber potential
26
Atrofi otot pada myotonia menyebabkan tampilan wajah khas:
panjang, kurus, tanpa ekspresi
27
Myotonia congenita (thomsen disease) ditemukan:
miotoni tanpa miopati/distrofi, mulai perlahan setelah latian berat otot gbs relaksasi, baru tampak saat puber/muda, jabat tangan susah dilepas, myotonic dimpling->thenar diketok, kontraksi
28
MIOTONIA KONGENITA bertambah keras bila:
emosi, kecapaian, udara dingin, menstruasi dan kehamilan.
29
MYOTONIA DYSTROPHIC penurunan secara... gejala (4)
Heredofamilial gejala: - Distrofi pada otot-otot wajah dan leher - Miotoni pada otot-otot lain - Atrofi pada alat-alat tubuh lain. Gangguan poliglandular: gangguan fungsi tiroid, paratiroid, adrenal, hipofise dll - Mulai pada umur 15-50 tahun - Bila ada atrofi testis -> impotensi & infertil - Pada wanita atrofi ovarium ->amenore
30
PERIODIC PARALYSES? seringkali berhubungan dengan perubahan kadar ... serum
DISFUNGSI PRIMER OTOT SKELET YANG KHAS DENGAN TIMBULNYA SERANGAN SEMENTARA KELEMAHAN OTOT, kalium
31
Periodic paralysis otot yg terlibat hanya ...
otot skelet
32
Periodic paralysis 2 tipe
Hiperkalemik, hipokalemik
33
Periodic paralyis acquired pd
tirotoksikosis kekurangan kalium kronik
34
Periodic paralysis familial scr?
AUTOSOMAL DOMINANT INHERITANCE
35
HYPOKALEMIC PERIODIC PRALYSIS, onset, durasi serangan, tes provokatif?
dekade I atau II 1-12 jam GLUKOSE+INSULIN
36
HYPERKALEMIC PERIODIC PARALYSIS, onset? durasi? tes provokasi?
>10th <1 jam KCI oral setelah latihan
37
Miopatia kongenitalis sejak bayi bagaimana ... shg disebut ...
Sejak bayi memiliki otot-otot terutama bagian proksimal -> lemah dengan hipotoni refleks normal -> Floppy Child
38
Miopatia mitokondria, diturunkan secara... (ibu/ayah?)
maternal
39
Chronic Progressive External Ophthalmoplegia (CPEO), klinis?
-bersifat kronik dan progresif - melihat ganda - ptosis bilateral dan simetris - dapat disertai gejala klinik yang berat seperti miopati proksimal, retinitis pigmentosa, cardiac conduction block -> mitokondria ini dinamakan Kerns-Sayre Syndrome (KSS).
40
Chronic Progressive External Ophthalmoplegia (CPEO) o/k?
delesi mtDNA yang mengkode subunit enzim respirasi
41
Manifestasi cacat sintesa protein mitokondria?
defisiensi aktivitas NADHCoQ exidoreductase dan sitokrom oksidase
42
diagnosis banding CPEO?
-miastenia gravis grave’s disease -distrofi okulofaringeal - pseudotumor orbital
43
CPEO Pemeriksaan laborat: Mg? Paratiroid? Laktat, piruvat, CPK? LCS?
rendah rendah naik naik
44
CPEO MRI, CT, USG terlihat otot ekstraokuler yang?
tipis, simetris
45
CPEO tes definitif? gambaran khas?
Biopsi otot, ragged red fibers dengan pewarnaan gomori trichome
46
CPEO pengobatan
CoQ10 -> penurunan piruvat, laktat dan peningkatan fungsi neuro
47
CPEO kontraindikasi tatalaksana
bedah pada ptosis
48
GBS patfis
autoimmune attack on peripheral nerve myelin, causing acute rapid segmental demyelination producing ascending weakness with dyskinesia, hyporeflexia, paresthesis
49
GBS klinis
-ascending weakness -diminished reflex on lower limb -hyporeflexia + weakness -> tetraplegia -neuromuscular respiratory failure -paresthesia
50
GBS CNS deficit dysarthria? perpetual frown? loss of gag? diplopia? inability to support head?
VII, IX, X, XII VII IX,X III,IV,VI XI
51
GBS assessment diagnosis
-motor weakness ascending + paresthesia + sensory deficit + CN dysfunction -history of viral ilness few weeks prior -ascending weakness -> resp arrest -CSF protein increased -NCS -> loss of nerve conduction velocity (progressive)
52
GBS management
Plasmapheresis, imunoglobulin IVIg Respiratory therapy Elective intubation
53
Bell's palsy patfis
N.VII paralysis -> palsy upper and lower face muscle
54
Bells palsy theory (4)
Vascular ischemic Viral infection Hereditary Immunology
55
Bell's palsy patogenesis 3 tipe
Sembuh sempurna (I) Sinkinesis, gejala lain (II) Degenerasi walerian, 2/3 ant lidah terganggu (III)
56
Bell's palsy, klinis
1. Hilangnya semua gerak volunter (lumpuh total) 2. Lipatan nasolabialis hilang, sudut mulut turun, kelopak mata tak dapat dipejamkan, kerut dahi hilang -> ekspresi wajah tidak ada. 3. Tanda Bell (+) : bila penderita diminta memejamkan mata, terlihat : lagoftalmus & bola mata berputar ke atas (dorsotarsi) 4. Kedipan mata berkurang à iritasi debu/angin 5. Saat bernafas, pipi menggembung (paresis m. Buccinator) à makanan cenderung mengumpul antara pipi & gusi ke sisi lain 6. Ggn pengecapan 2/3 lidah depan (korda timpani terkena) 7. Hiperakusis (saraf ke m.stapedius terlibat) 8. Ggn produksi air mata (lesi pada ganglion geniculatum) à tes schimmer
57
Skala untuk bells palsy
Ugo Fisch Scale 0 asimetris komplit 30 simetris ke asimetris komplit 70 normal simetris 100% normal simetris
58
Bells palsy letak lesi: kel motorik, ggn kecap dengar, hiposekresi saliva, hiposekresi lakrimal +? positif semua kec. hiposekresi lakrimal? positif semua kec. hiposekresi lakrimal dan ggn pendengaran? yg positif cuma kelainaan motorik?
Pons - meatus akust int - ggl gen Ggl gen - n. stapedius n. stapedius - khord thy Khord thy - for stilomast
59
Tes bells palsy
Schrimmer normal 10-30mm hiposekresi <10mm
60
Bells palsy terapi medikamentosa
KS operatif bedah dekompresi (kontroversi) rehab medik
61
Bells palsy terapi fisioterapi
1. Terapi panas 2. Masase 3. Biofeed back 4. PNF (Proprioseptive Neuromuskular Facilitation) 5. Pemasangan Y plester 6. Psikoterapi 7. Stimulasi listrik
62
CTS compression of
Median nerve at wrist
63
CTS clinical
-Pain -Numbness -Tingling -Symptoms are usually worse at night and can awaken patients from sleep. -To relieve the symptoms, patients often “flick” their wrist as if shaking down a thermometer (flick sign). -Pain and paresthesias may radiate to the forearm, elbow, and shoulder. -Decreased grip strength may result in loss of dexterity, and thenar muscle atrophy may develop
64
CTS Physical exam
v Phalen’s maneuver v Tinel’s sign v weak thumb abduction. v two-point discrimination
65
CTS diagnosis
history physical exam Nerve conduction study
66
CTS treatment
Wrist splints oral med local injection->lidocaine (w/o epinephrine) +methylprednisolone Ultrasound therapy Surgery->if need >2 injections
67

5.1 UTM (13 decks)

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