Saraf Tepi 2 Flashcards
Miopati
Hipokalemi Periodic Paralysis
- autosomal dominant, bbrp sporadic
Terdapat dua tipe : 1. Tipe 1 : mutasi pada calcium channel CACNA1S pada kromosom 1q31 2. Tipe 2: mutasi pada sodium Chanel SCN4A
klinis : - episode kelemahan tanpa myotonia , dpt fokal Atau general
- hiporeflexia saat serangan
- serangan Dalam bertahan bbrp jam, dengan kelemahan lemah persisten selama bbrp Hari.
- diprovokasi Oleh : exercise, makan Kaya karbohidrat, ethanol, dingin, stress.
- pemeriksaan : serum kalium turun, CK Naik.
- tes provokatif dgn pemberian glukosa
Tatalaksana : - menghindari pencetus
- carbonic anhydrase inhibitor ; acetazolamid
- kalium-sparing diuretic
Hiperkalemi Periodic Paralysis
- autosomal dominant, disebabkan mutasi sodium channel SCN4A
- periode kelemahan dipicu istirahat setelah exercise, puasa
- tes provokatif : pemberian kalium
- selama serangan dapat diberikan glukosa.
- Terapi preventif : thiazide diuretic
Andersen-Tawil syndrome
- channelopathy , mutasi pada potassium channel KCNJ2 karakteristik : - kelemahan - ventrikular aritmia - gambaran distrofi
Steroid induced myopathy
Penyebab : - penggunaan Obat obatan steroid - endogenous hipercortisolism , seperti sindrom cushing Pemeriksaan : - pemeriksaan EMG non spesifik - CK normal
Centronuclear myopathy
Centronuclear myopathy terdiri atas 3 bentuk :
- Slow progressive infantile
- Severe-X linked neonatus; bentuk paling sering adalah myotubular myopathy
- Adult onset type
Dystropic myotonia
Terdiri atas
1. Dystropic myotonia tipe 1 :
early adult life , ptosis & facial weakness, frontal balding, atrophy masseters & temporalis, Dan
weakness & atrophy otot tangan dan extensors
forearms & peroneal.
- Distal muscles are
characteristically affected.
- terdapat myotonia: phenomenon of prolonged contraction and slow relaxation.
- diaphragmatic weakness; respiratory failure, and cardiac abnormalities, especially
conduction defects
- Dystropic myotonia tipe 2 : proximal Myotonic Myopathy (PROMM). Klinis : Kelemahan otot proximal. Sering melibatkan cardiac, katarak.
Congenital Muscular dystrophy; tiga tipe utama
Tiga tipe utama Congenital Muscular dystrophy:
(1) collagenopathies ; Ullrich’s CMD , Bethlem
myopathy
(2) merosinopathies ; laminin-α-2-related CMDs,
(3) dystroglycanopathies; Fukuyama CMD, muscle–eye–brain disease, dan Walker–Warburg syndrome.
Fukuyama CMD, klinis Dan diagnosis
mutasi fukutin gene on chromosome 9q.
Klinis characteristic :
- weakness and ocular and CNS abnormalities.
- hypotonic
and floppy, with joint contractures at the hip, knee, and ankles.
- kelemahan dapat generalized, dan patients typically do
not learn to walk.
- Creatine kinase levels are elevated
- muscle
biopsy : dystrophic changes & reduced α-dystroglycan.
- sering melibatkan Central nervous system; cognitive developmental delay and seizures.
-Brain MRI : abnormalities in gyration and characteristic white matter changes
frontal region
merosinopathy laminin-α-2 deficiency
- merosinopathy laminin-α-2 deficiency disebabkan mutation in the laminin-α-2 gene, which encodes for the protein
merosin - hypotonic saat Lahir
- severe weakness of the trunk and limbs.
- Extraocular and facial muscles are spared.
- Contractures pada kaki Dan panggul
- Some patients may have seizures; however,
unlike Fukuyama-type CMD, intelligence is generally preserved.
MRI shows white matter changes and sometimes cortical
abnormalities.
facioscapulohumeral muscular dystrophy (FSHD)
- autosomal dominant ,deletions pada 3.3 kb repeating sequences, D4Z4, chromosome 4q35.
- slowly progressive, dan predominan pada wajah Dan bahu, extremitas bawah terkena pada stadium lanjut.
-Onset rata rata 16 in
males dan 20 in females, atau antara dekade 1 Dan 6 - Klinis :
- kelemahan dapat asymmetric, sulit mengangkat lengan ke atas kepala, dengan keterlibatan menonjol pada lengan atas
(scapular muscles, biceps, triceps, trapezius, serratus anterior, and
pectoralis), with relative sparing of the deltoids. upper arm
lebih atrophic daripada forearms, membuat tulang bahu menonjol. - Beevor sign : umbilicus moves upward with neck
flexion
oculopharyngeal muscular dystrophy
- autosomal dominant late-onset muscular dystrophy with
manifestations restricted to the ocular and pharyngeal regions. - more frequent in patients of French-Canadian descent, disebabkan GCG repeat expansion pada poly-A–binding protein 2
gen chromosome 14q11.
Klinis : - dysphagia,
dysphonia, and slowly progressive ptosis, and sometimes late
involvement of extraocular muscles. - Tidak ada myotonia.
Pemeriksaan: - Creatine kinase and aldolase levels normal
- EMG abnormal in affected muscles.
- biopsi : demonstrates
variation in fiber size, rimmed vacuoles, and intranuclear tubular
filaments.
carotid sinus hypersensitivity
- Carotid sinus
hypersensitivity results from an exaggerated response to
baroreceptor stimulation. - occurrence of syncope associated with either a
period of asystole of at least 3 seconds or a fall of at least
50 mm Hg in systolic blood pressure, dapat terjadi tanpa Bradikardi. - Triggers can include a tight collar, turning of the head, or even
swallowing
Glycogenosis
Aglycogen storage disease(GSD/glycogenosis& dextrinosis) - is ametabolic disordercaused byenzymedeficiencies affecting eitherglycogensynthesis, glycogen breakdown orglycolysis(glucose breakdown), typically withinmusclesand/orliver cells Macam GSD 0 GSD 1 ; Von gierke disease GSD 2 ; pompe's disease/acid maltase deficiency GSD 3 ; Cori's disease/Forbes disease GSD 4 ; Andersen disease GSD 5 ; Mc Ardle disease GSD 6 ; Hers Disease GSD 7 ; Tarui Disease GSD 12; Aldolase A Defisiensi
Mc Ardle Disease; klinis Dan diagnosis
: Glycogenosis tipe 5
: autosomal recessive; myophosphorylase deficiency. This enzyme normally participates
in the conversion of glycogen into glucose-6-phosphate; therefore,
its deficiency will lead to glycogen accumulation and lack of
glucose release from glycogen. The typical presentation is exerciseinduced weakness and muscle cramps. The muscle cramps are
physiologic contractures: they are electrically silent when an EMG
needle is inserted into the contractured muscles (this forms the
basis of the definition of true physiologic muscle contracture, in
contrast to chronic shortening of a muscle and its tendon which,
strictly speaking, is a pseudocontracture). Unlike normal muscles,
when the muscle is exercised there is no production of lactic acid
On exertion, a sensation of fatigue may ensue; however, if the
patient slows down or rests briefly, this sensation may disappear
and the patient may be able to continue with the exercise. This is
called a “second-wind phenomenon,” which is typically seen in
McArdle’s disease, and results from mobilization and use of blood
glucose
Tarui Disease
Tarui disease (glycogenosis type VII) is caused by
phosphofructokinase (PFK) deficiency in muscle and erythrocytes.
This enzyme participates in the conversion of glucose-6-phosphate
into glucose-1-phosphate, and therefore, it is similar to McArdle’s
disease from the muscular standpoint. In addition, some patients
may develop jaundice (due to hemolysis) and gouty arthritis due to
PFK deficiency in erythrocytes. Immunohistochemical analysis
distinguishes these two disorders
Cori’s disease
Cori’s disease (glycogenosis type III) is caused by a deficiency in
the debranching enzyme, leading to glycogen accumulation. These
patients can present with a childhood form with liver disease and
weakness or with an adult form characterized by myopathic
weakness.
Andersen disease
Andersen’s disease (glycogenosis type IV) is caused by a
deficiency in the glycogen branching enzyme, and is characterized
by hepatomegaly from polysaccharide accumulation, cirrhosis, and
liver failure.
Pompe’s disease / acid maltase deficiency
Pompe’s disease (glycogenosis type II) disebabkan acid maltase
deficiency, enzyme
participates in the breakdown of glycogen to glucose; its deficiency
leads to glycogen accumulation, causing the typical histopathologic
findings on muscle biopsy: vacuolated sarcoplasm with glycogen
accumulation that stains strongly with acid phosphatase.
paramyotonia congenita
paramyotonia congenita, which is an autosomal
dominant channelopathy caused by a mutation in the sodium
channel gene SCN4A. The manifestations are similar to those of
myotonia congenita; however, unlike in myotonia congenita, in
paramyotonia congenita, there is no “warm-up” phenomenon.
Rather, repeated exercise accentuates myotonia, which is most
clearly appreciated in the eyelids. Hence the name is derived from
“para”-doxical reaction to exercise. Exposure to cold worsens the
myotonia and may precipitate weakness, also in contrast to
myotonia congenita. Percussion myotonia is rare, but can be seen
after exposure to cold. EMG after cold exposure can also
demonstrate fibrillation potentials followed by electrical
inexcitability
Vaso Vagal Syncope
vasovagal syncope, a form
of neurally mediated syncope or neurocardiogenic syncope.
Syncope is a sudden transient loss of consciousness with a loss of
postural tone. There are several causes of syncope; one of the most
common causes is vasovagal syncope. It can have many potential
triggers, with phlebotomy being a common one. This type of
syncope results from a combination of inhibition of normal
vascular sympathetic tone and increased vagal tone. Clinical
features that suggest vasovagal syncope include preceding or
concomitant diaphoresis, palpitations, and nausea. It is more
common in women.
Duschene Muscular dystrophy , klinis Dan diagnosis
presents early in life and manifests
with weakness and delayed development of motor milestones.
These children have frequent falls, and difficulty walking, running,
and rising from supine and sitting positions. Weakness is significant
in the proximal muscles, predominantly in the iliopsoas,
quadriceps, and gluteals, as well as the shoulder girdle and upper
limbs. It also tends to affect the pretibial muscles. These patients
have pseudohypertrophy of the calves due to fibrosis. They also
have scapular winging and contractures. Ocular, facial, and bulbar
muscles are usually spared. Cardiac involvement includes
arrhythmias, cardiomyopathy, and heart failure. It is recommended
that all patients with Duchenne muscular dystrophy undergo
cardiac evaluation
Becker muscular dystrophy
Mirip dengan Duchene Muscular dystrophy namun dengan gejala lebih ringan Dan onset lebih tua (remaja Dan dewasa)
Nonaka myopathy
Nonaka myopathy merupakan autosomal
recessive distal myopathy
- onset in early adulthood.
- characterized by foot drop associated with weakness of the anterior
tibial muscles. Eventually, muscles of the upper extremities are
affected, especially the extensors.
- Muscle
biopsy : rimmed vacuoles,
tubular filaments mirip inclusion body myositis,
Tanpa inflammation.
- This condition is associated with a mutation
in the GNE gene located on chromosome 9p
Welander muscular dystrophy
Welander muscular dystrophy merupakan distal myopathy inherited autosomal dominant fashion,
- onset antara 40 and 60 thn
- usually begins with weakness and
atrophy in the distal muscles of the hands and later affects the legs. - Muscle biopsy :myopathic changes and rimmed
vacuoles
Markesbery–Griggs
Markesbery–Griggs merupakan autosomal dominant distal
myopathy
- onset later in adult life, disebabkan mutasi gene encoding titin chromosome 2q.
- Karakteristik: foot
drop ,kemudian berkembang wrist drop dan kelemahan extensor muscles of the forearms
