Saraf Tepi

Question 1

Tanda Klinis Dermatomyositis

Answer 1

Inflamasi otot yg berhubungan dengan temuan kulit. Kelemahan otot terutama proksimal.
Sering berkaitan dengan keganasan.

Klinis :
• Tidak dapat berdiri dari duduk, tidak dpt Naik tanggal, sulit menaikkan lengan keatas kepala
• Gambaran khas kulit :
- heliotrope rash: purplish discoloration of the eyelids
- Shawl sign : erythema of theunable face, neck, anterior chest, upper back, elbows and knees,
- Gottron’s papules : purplish scaly papular rash on the extensor surface of the hands
- “mechanic’s hands” (thickened skin on the dorsal and ventral surface of the hands).

Lab : Serum creatine kinase normal/meningkat
Biopsi : perifascicular atropi

Question 2

Apakah “Rippling Muscle”?

Answer 2

Khas pada LGMD1C

Defek pada protein Caveola

Question 3

Apakah “Pseudohypertrophic muscle”?

Terdapat pada?

Answer 3

• Pelebaran otot Karena lemak

- terdapat pada miopati, misal DMD

Question 4

Klinis dan penyebab De quarvein tenosynovitis

Answer 4

Inflamasi pada tendon ekstensor policis brevis / abductor policis Longus.

Klinis : nyeri menjalar hingga Ibu jari

PF : Finkelstein test (+)

Question 5

HNP L5-S1 pada pemeriksaan fisik akan di dapatkan

Answer 5

Hiporeflek tendon Achilles , patella

Question 6

Radial Neuropathy
Macam :
Klinis

Answer 6

Macam :
- honeymoon palsy, Saturday night palsy, squashy palsy

Klinis :

• drop wrist , tidak mampu ekstensi tangan
• Baal di punggung tangan/lengan

Question 7

Giant Axonal Neuropathy (GAN), Klinis Dan diagnosis

Answer 7

• autosomal recessive, berkaitan dengan mutasi GAN gen yg mengkode Gigaxonin.
• onset usia anak progressive, Dan kematian biasanya saat usia remaja
• melibatkan filament intermediate Susunan saraf pusat Dan perifer.
  Klinis :
• sensorymotor neuropathy
• curled hair
• atropi optik
• karakteristik gait : berjalan dengan Sisi Dalam kaki.
• Histology : focal axonal swelling

Question 8

Kearn Sayre Syndrome

Answer 8

; disebabkan mutasi pada DNA mitochondria.

• onset usia sebelum 20 tahun
• Klinis : retinitis pigmentosa, progressive Opthalmoplegy, ggx jantung

Question 9

Myoneurogastrointestinal Encephalopathy (MNGIE)

Answer 9

Disebabkan krn mutasi thymidine phosphorylase gene

• Gejala utama pseudoobstruksi gastrointestinal
• opthalmoparesis
• Demyelinating neuropathy

Question 10

Refsum Disease, Klinis Dan diagnosis

Answer 10

; HMSN 4 (Hereditary Motor Sensory Neuropathy)
- autosomal dominant peroxisomal disorders
- berkaitan dengan metabolism enzim asam lemak, menyebabkan akumulasi Phytanic acid.
Manifestasi klinis
- retinitis pigmentosa
- cardiomyopathy
- Perubahan kulit
- ggx saraf ; neuropathy, hearing loss, anosmia, Ataxia, ggx Cerebellar.

Question 11

Myasthenia gravis, patofisiologi

Answer 11

: neuromuscular junction Disorders, Karena kerusakan post sinaps nicotinic acetylcholine receptors Karena antibody.

Question 12

Lambert Eaton myasthenic syndrome, patofisiologi, klinis

Answer 12

: berkurangnya pelepasan acetylcholine Dan antibody pada presinaps voltage gate calcium channel.
: antibodies against presynaptic P/Q type voltage-gated calcium channel, reducing the influx of calcium
that normally leads to release of acetylcholine into the NMJ
- Sering berkaitan dengan syndrome paraneoplastic pada Ca Paru

-Klinis :
Dibandingkan MG, jarang melibatkan okular/bulbar.
Predominan mengenai otot proximal (shoulder &hip girdle
- While in LEMS,
worsening of muscle weakness with repetitive muscle use
ultimately occurs, there is a transient improvement of muscle
strength following repetitive muscle use prior to worsening
weakness. This can sometimes be elicited on physical examination
as well as electrophysiologically.
- unlike myasthenia gravis, in
LEMS, deep tendon reflexes are often diminished or absent.
- Autonomic features are prominent in LEMS, including constipation,
urinary retention, and impotence.

Question 13

CIDP, Klinis Dan diagnosis

Answer 13

• Kelemahan distal Dan proximal dengan Dan tanpa hilangnya sensorik
• hipo/areflexia
• keterlibatan Otonom lebih jarang dibanding GBS
• Progressive Dan relaps dengan waktu Durasi setidaknya 8 minggu.
  Pemeriksaan
• NCV : gambaran demiyelinisasi polyneuropathy; demyelinisasi dengan Blok konduksi
• LCs : Albuminocytologic dissociation
• sural nerve Biopsi : onion-bulb formation
• monoclonal Protein analysis utk evaluasi serum paraprotein

Question 14

Struktur pada Carpal tunnel, Klinis Dan diagnosis Carpal tunnel syndrome

Answer 14

Struktur pada Carpal tunnel:

• N. Medianus
• tendon flexor policis longus
• 4 tendon flexor digitorium superficialis
• 4 tendon flexor digitorium profundus

Klinis CTS :
Nyeri Dan paresthesia setengah radial (lateral) telapak tangan. Nyeri dapat meluas ke lengan atas.

PF :
Thinel sign
Phalens manouver
Atrofi otot thenar

Question 15

Etiology GBS

Answer 15

• 60 persen didahului penyakit respirasi dan gastrointestinal 1-3 minggu sebelumnya.
  Dikaitkan dengan Campylobacter jejuni.
• Terjadi reaksi imunologi pada saraf perifer.
• Terjadi mononuclear infiltrasi pada saraf perifer, aktivasi T-Lymphosit, Dan antibody berikatan dengan sel schwan Dan komponen myelin.

Question 16

GBS ;Klinis, Diagnosis Dan Tatalaksana

Answer 16

• umumnya diawali gejala sensoris, terutama paresthesia pada distal, umumnya pada jari Dan kaki, Naik ke ekstremitas bawah lalu ekstremitas atas.
• kelemahan ekstremitas diawali Dari distal ke proximal.
• dpt terjadi kelemahan pernafasant Dan otot bulbar.
• LCS : cytoalbumin dissociation (protein tinggi WBC rendah (tidak lebih Dari 10))
• NCS/EMG dpt normal pada fase akut. Sehingga pemeriksaan dilakukan Di awal Dan diulang dalam 3 minggu.
  Tatalaksana :
• Plasmapheresis 200-250 ml/kg, 4 - 6 kali
• IvIg 400 mg/kg/Hari selama 5 Hari.
  Keduanya memiliki efikasi Sama.
  Steroid tidak memberikan manfaat.

Question 17

Parameter perburukan pada GBS

Answer 17

• Negative Inspiratory force kurang Dari 30ccH2O
• Vital capacity kurang Dari 15-20 ml/kg
  ; Merupakan indikasi utk support elective endotracheal tube.

Pada GBS yg melibatkan Otonom dpt mengalami perburukan cepat seperti aritmia, Bradikardi, takikardi, hemodynamic instability, gagal nafas

Question 18

Familial Amyloid Polyneuropathy, Klinis Dan Diagnosis

Answer 18

• FAP adalah grup Dari autosomal dominant multisystem Disorders , berupa deposisi protein amyloid pada saraf perifer Dan organ Yang lain, termasuk jantung Dan ginjal.
• Paling sering : FAP 1 Dan FAP2, disebabkan krn mutasi transthyretin

FAP 1
- onset dekade 3/4
- disfungsi Otonom, keterlibatan jantung Dan ginjal,
FAP 2
- onset dekade 4/5
- gejala utama CTS Dan progressive lambat polyneuropathy, tanpa keterlibatan Otonom
FAP 3 Dan FAP 4 jarang

Question 19

Diabetic autonomic neuropathy, Klinis Dan diagnosis

Answer 19

• melibatkan multiple sistem organ
• cardiovascular : takikardi, Bradikardi, orthostatic hypotension, silent Miocard infark
• Gastrointestinal : delayed gastric emptying, diare (umumnya nocturnal), colonic atony
• neurogenic bladder
• sudomotor abnormal : hipohidrosis/hiperhidrosis

Question 20

Charcot Marie Tooth, macam

Answer 20

Sensorymotor neuropathy Atau peroneal Atrophy herediter. ( Hereditary Motor and Sensory Neuropathy /HMSN)
Khas ; hammer toes , high-arched foot
Macam CMT :
CMT 1 : paling banyak : demyelinisasi
CMT X : paling banyak kedua : demyelinisasi , gejala seperti CMT 1 , namun X linked
CMT 2 : lesi axonal . Tidak seperti CMT yg lain, tangan lebih terlibat daripada kaki
CMT 3 : dejerine sottas : hipertrofi neuropathy in infancy
CMT 4 : refsum disease : retinitis pigmentosa; vision loss, severe kifosis, hearing loss, Cerebellar sign. Onset anak anak
CMT 5 : spastic paraplegia, normal upper limb, tidak Ada gangguan sensoris
CMT 6 : pupil atropi
CMT 7 : retinitis pigmentosa, Prednisone-responsive

Gambaran NCS pada CMT : diffuse slow konduksi velocity tanpa temporal dispersi.
Amplitude CMAP SNAP turun

Question 21

Hereditary Neuropathy with liability to Pressure Palsies (HNPP)

Answer 21

• merupakan autosomal dominant Dan disebabkan delesi peripheral mielin gen (PMP22), gen yg Sama pada CMT 1A
  : Klinis :
• episode rekuren fokal mononeuropathy / plexopathy pada ekstremitas bawah/atas. Umumnya pada nervus peroneal, selanjutnya n ulnar
• umumnya pada dewasa muda
• tidak Ada riwayat trauma Atau kompresi sebelumnya.
• kelemahan tidak disertai nyeri
• NCS : perlambatan fokal area kompresi. Pada beberapa kasus terdapat penurunan difus amplitudo SNAP.

Question 22

Tangier’s disease

Answer 22

• autosomal recessive disorder, terdapat mutasi ABCA1 gene 9q31menyebabkan deposisi triglyceride pada sistem retikuloendothelial, sumsum tulang, tonsil (yellow-orange appearance)
• Biopsi sumsum tulang : fat laden macrophages
  Klinis : Simetris dominan sensoris Neuropathy dengan penyebaran hilang nya sensasi (hilangnya sensasi nyeri Dan temperature dengan preservasi relatif columna posterior)

Question 23

Multifocal Motor Neuropathy (MMN)

Answer 23

: Multifocal Motor Neuropathy with conduction block
: Demiyelinisasi murni motorik dengan kelemahan motorik asimetris dengan keterlibatan , saraf perifer individual
Pemeriksaan :
- LCS normal
- anti GM1 positive
- NCV : Blok konduksi pada berbagai distribusi saraf , sensory normal.
Terapi :
IvIg, rituximab Dan cyclophosphamide
Response pada steroid Dan plasmapheresis tidak bagus.

Question 24

Meralgia Paresthetica

Answer 24

: mononeuropathy nervus femoral cutaneous lateral , saraf berasal Dari L2-L3, murni sensorik
: Klinis :
- nyeri, Baal, paresthesia pada aspek anterolateral paha.
- nyeri memberat dengan berdiri dan berjalan.
- nyeri membaik dengan fleksi hip Dan duduk
- predisposisi : kegemukan, Hamil, BB turun drastis, ikat pinggang terlalu kencang

Question 25

Ankle Neuropathy / Charcot joint

Answer 25

Joint deformitas yg berkaitan dengan hilangnya sensasi Dan ataxia sensoris yg disebabkan Neuropathy

Question 26

Parsonage-Turner Syndrome

Answer 26

acute
brachial plexitis : neuralgic amyotrophy /
Parsonage–Turner syndrome.
- Dapat terjadi setelah surgery,
vaccination, systemic viral illness, idiopathic.
- Gejala acute brachial neuritis : acute onset
of severe shoulder and arm pain, kmdn resolve, dengan kelemahan subsequent
- Saraf yg terlibat: suprascapular nerve,
long thoracic nerve, median, lumbosacral plexus.
- sering monophasic with
good recovery
- beberapa kasus herediter terkait gen SEPT9 kromosom 17

Question 27

Ischemic monomelia

Answer 27

Terjadi saat penempatan arteriovenous shunt pada dialisis.

Klinis : nyeri Dan hilangnya sensoris yg mengelilingi distribusi saraf multipel

Question 28

Panplexopathy, perbedaan dgn carsinomatous invasion

Answer 28

Panplexopathy : painless radiation-induced plexopathy. Dapat muncul berbulan bulan setelah radiasi.
Myokimia pada EMG membedakan nya dgn carsinomatous invasion

Question 29

Subtipe Varian GBS

Answer 29

1. Acute inflammatory Demyelinating Polyneuropathy : Demyelinisasi, latensi memanjang, conduction velocity lambat
2. Acute Motor and Sensory Axonal Neuropathy : Tidak Ada gambaran demiyelinisasi, tapi Amplitudo motor Dan sensor turun .
   terdapat antibody GM1, GM1b , GD1a
3. Acute Motor Axonal Neuropathy : Tidak Ada gambaran demiyelinisasi, tapi Amplitudo motor turun. terdapat antibody GM1, GM1b , GD1a, GalNAc-GD1a
4. Acute sensory Neuronopathy :
   Terdapat antibody GD1b
5. Miller fisher syndrome : trias ataxia, Opthalmoplegy, areflexia. Terdapat antibody GQ1b

Question 30

multifocal acquired demyelinating sensory and motor neuropathy (MADSAM )

Answer 30

(MADSAM) is a demyelinating neuropathy
with evidence of conduction block, presenting with asymmetric
motor and sensory symptoms. The progression is gradual and slow,
usually involving the upper limbs initially and later the lower
limbs. Deep tendon reflexes are diminished in the distribution of
the affected nerves. On CSF examination, the protein is usually
elevated. Unlike multifocal motor neuropathy, anti-GM1 antibodies are not present, and
electrophysiologic studies show abnormalities in motor and sensory
nerves, with features of demyelination and conduction block.
Patients with MADSAM may improve on steroids.

Question 31

Fabry’s Disease

Answer 31

• defisiensi enzyme Alfa galactosidase A, enzim lisosom.
• accumulation of globotriaosylceramide Di kulit, ginjal, jantung.
• lesi Di kulit : angiokeratoma ; titik hitam pada badan Dan area intertriginous seperti axilla, scrotum
• pada saraf : Peripheral nervous system
  complications ; small-fiber neuropathy& autonomic
  neuropathy. Stroke krn cardioembolic atau large or small vessel occlusion. Endothelial deposition of
  globotriaosylceramide menyebabkan dolichoectasia, increasing risk
  for thrombosis

Question 32

Hereditary sensory and Autonomy Neuropathy (HSAN)

Answer 32

Penyakit herediter dgn Gejala utama sensoris. Lebih jarang drpd CMT.
- symptoms, including
pain, sensory loss, and autonomic features with little motor
involvement. Because of the sensory loss, patients with HSANs are
prone to painful calluses, stress fractures, neuropathic (Charcot)
joints, skin ulcerations that heal poorly, and infections with deep
tissue involvement, such as osteomyelitis, leading to disfiguring
acral mutilations.
Macam :
1. HSAN 1 : paling sering. Tipikal pd dewasa muda.
2. HSAN 2 : infancy. Hilangnya sensitivity pada nyeri shg beresiko mutilasi tangan, bibir, lidah. Gejala Otonom tidak menonjol
3. HSAN 3 : familial
dysautonomia or Riley–Day syndrome, an autosomal recessive
HSAN with prominent autonomic features. Symptom onset is in
infancy with dysphagia, vomiting, recurrent infections, and blood
pressure lability. It is particularly prevalent among Ashkenazi
Jews. With emotional stimulation, there is hyperhidrosis, skin
flushing, and hypertension
4. HSAN 4 : congenital insensitivity to pain with anhidrosis
5. HSAN 5 : congenital insensitivity to pain with partial anhidrosis

Question 33

Multiple Mononeuropathy/ Mononeuritis multiplex

Answer 33

involvement of two or more nerves, usually with acute to
subacute onset, in which subsequent nerves are involved at
irregular intervals. Common causes of mononeuritis multiplex are
vasculitic neuropathy, polyarteritis nodosa, Wegener’s granulomatosis,
Sjogren’s syndrome, or Churg–Strauss syndrome, sarcoidosis,
paraneoplastic processes, amyloidosis, leprosy, systemic lupus
erythematosus, rheumatoid arthritis, and lymphoma. Diabetes can
present not only with a distal symmetric polyneuropathy, but can
also be associated with mononeuritis multiplex.

Question 34

erythromelalgia

Answer 34

rare autosomal dominant disorder characterized by episodes of
severe burning and erythema of the distal extremities. These
episodes may be precipitated by exposure to either heat or cold.
Patients are typically asymptomatic between episodes

Question 35

cryoglobulinemia

Answer 35

complement levels are
reduced.
The clinical manifestation of cryoglobulinemia includes
nonspecific constitutional symptoms, palpable purpura, arthralgias,
lymphadenopathy, hepatosplenomegaly, and peripheral
neuropathy, including mononeuritis multiplex. Cryoglobulins are
immunoglobulins that precipitate when exposed to cold
temperatures and redissolve on rewarming

Question 36

acute hepatic porphyria

Answer 36

Because the dysfunctional
enzymes have some residual enzyme activity, symptoms often do
not appear until adolescence or later, with some symptoms
occurring in episodes with exposure to certain triggers. Common
triggers include medications, menstruation, and alcohol .
Symptoms typically begin with abdominal pain and other
gastrointestinal symptoms, followed by neurologic symptoms,
including most prominently manifestations of autonomic instability
(tachycardia, labile hypertension, orthostasis, and urinary
retention). Neuropsychiatric symptoms including psychosis occur,
and seizures may be present as well. In some patients, a subacute
predominantly motor neuropathy occurs; the arms may be affected
prior to the legs, and proximal muscles are involved more than
distal muscles. Involvement of the radial nerve in isolation may
occur. The neuropathy is both axonal and demyelinating. Cranial
nerve involvement, and even respiratory muscle involvement
leading to respiratory failure, may occur

Question 37

Beevor sign

Answer 37

Beevor sign : umbilicus moves upward with neck
flexion

Terdapat pada facioscapulohumeral muscular dystrophy (FSHD).

Question 38

Krisis Cholinergic

Answer 38

• overstimulation
  muscarinic receptors systemic krn overdosing pyridostigmine.
• Klinis :
• Yang membedakan dengan myasthenic crisis : presence of nausea, vomiting,
  diaphoresis, sialorrhea, excessive bronchial secretions, miosis,
  bradycardia, and diarrhea

Question 39

Mekanisme aksi Pyridostigmine, efek samping

Answer 39

: Acetylcholinesterase inhibitors, including pyridostigmine and
neostigmine, inhibit acetylcholinesterase, increasing levels of
acetylcholine at the neuromuscular junction (NMJ)
- Efek samping : activation of
muscarinic receptors outside of the NMJ, and include diarrhea,
nausea, abdominal cramps, and increased bronchial secretions. At
therapeutic doses, pyridostigmine does not affect central
cholinergic pathways, as it does not cross the blood–brain barrie

Question 40

Antibody pada Myasthenia gravis Dan Lambert Eaton syndrome

Answer 40

• Acetylcholine receptor modulating antibodies are seen in
  autoimmune myasthenia gravis. Anti-striational muscle antibodies
  can be detected in patients with autoimmune myasthenia gravis or
  thymoma.
  s. In approximately half of all patients who are
  seronegative for antibodies against the acetylcholine receptor, anti MuSK (anti–muscle-specific tyrosine kinase) antibodies are present.
• Antibodies against presynaptic P/Q-type voltage-gated
  calcium channel are seen in Lambert–Eaton syndrome

Question 41

myasthenia gravis with anti–muscle-specific tyrosine kinase

(MuSK) antibodies

Answer 41

In approximately half of all patients who are
seronegative for antibodies against the acetylcholine receptor, antiMuSK antibodies are present. In patients with anti-MuSK
antibodies, the clinical picture may resemble the typical form of
autoimmune myasthenia gravis or ocular myasthenia, but more
commonly, weakness involves predominantly cranial and bulbar
muscles, with prominent dysphagia, neck flexor weakness, and
respiratory weakness, with relative sparing of ocular muscles
(though eyelid and ocular muscle involvement may occur). This
disorder is more common in young women, and typically does not
respond to pyridostigmine. Treatment is with immune-modulating
therapy, including intravenous immunoglobulins and
plasmapheresis

Question 42

limbgirdle muscular dystrophies (LGMDs)

Answer 42

LMGD mrpkn muscular dystrophies dengan
proximal weakness , melibatkan shoulder or pelvic
girdle with sparing facial muscles.
- The mode of inheritance menentukan classification, berdasarkan the genetic defects
& gene products involved
- Jenis : LGMD1 (autosomal dominant) Dan LGMD 3 (autosomal recessive)
- Biopsi : dystrophic changes, with myofiber necrosis,
degeneration, regeneration, increased fiber size variation,
endomysial inflammation, and fibrosis

Question 43

Amyotrophic lateral sclerosis (ALS)

Answer 43

amyotrophic lateral sclerosis (ALS). ALS is a neurodegenerative
disorder that affects motor neurons in the anterior horn of the
spinal cord, but also the motor cortex and brainstem
The hallmark of ALS is evidence of both upper motor neuron
disease (such as hyperreflexia, clonus, and presence of a Babinski
sign) and lower motor neuron disease (atrophy, fasciculations in
the limbs, trunk, tongue, and occasionally face) in the absence of
sensory symptoms or sensory abnormalities on examination.
Clinical presentation is variable but most often muscle weakness
begins focally, usually in the extremities (two-thirds of cases) and
spreads to involve contiguous regions, though there is significant
variability in the pattern of motor weakness. The split-hand
phenomenon is a feature of ALS, characterized by weakness and
atrophy of the lateral hand (thenar and first dorsal interosseous
muscles) with relative sparing of the medial hand (hypothenar)
muscles. Approximately one-third of patients present with bulbar
symptoms, such as dysarthria or dysphagia (bulbar-onset ALS).
Other symptoms of bulbar involvement include sialorrhea.
Pseudobulbar palsy (pathologic laughter and crying without a
corresponding change in mood) and excessive yawning

Question 44

Primary lateral sclerosis (PLS)

Answer 44

Primary lateral sclerosis (PLS) is characterized by presence of
upper motor neuron signs at least 3 years from symptom onset
without evidence of lower motor neuron dysfunction. PLS is
considered along the spectrum of amyotrophic lateral sclerosis
(ALS) although it is controversial as to whether or not it is a
separate entity. It typically presents in the sixth decade of life with
a progressive spastic tetraparesis and later, cranial nerve
involvement. Rarely, bulbar onset occurs. Spasticity, rather than
muscle weakness or atrophy, is the most prominent feature. It
typically progresses slowly over years. Autonomic involvement
does not typically occur. Autopsy in patients with PLS has shown
significant cell loss in layer 5 of the motor and premotor cortex,
predominantly the large pyramidal Betz cells with corticospinal
tract degeneration.

Question 45

Progressive muscular atrophy (PMA)

Answer 45

Progressive muscular atrophy (PMA) is considered along the
spectrum of ALS, although this is controversial; it is a motor
neuron disease that affects only the lower motor neurons,
distinguishing it from ALS, which affects both upper and lower
motor neurons. It often presents with focal asymmetric distal
weakness that later involves more proximal regions and other
extremities, with lower motor neuron features on examination such
as atrophy, hyporeflexia, and fasciculations. PMA begins at an
earlier age as compared to ALS, and survival is often longer than
ALS, with a median survival of 5 years though more rapidly
progressive and more chronic forms of the disease occur

Question 46

post-polio syndrome

Answer 46

The polio virus
infects anterior horn cells, leading to a lower motor neuron pattern
of weakness similar to PMA. In those who survive, a post-polio
syndrome may emerge years after recovery, marked by
progressive fatigue, and weakness in muscles previously affected
minimally or seemingly not at all