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NEUROLOGY • There is normal secretion of

NEUROMUSCULAR JUNCITON acetylcholine


SEPTEMBER 21, 2005 • CLINICAL FEATURES: occurs in all
ages, affects female than males,
NEUROMUSCULAR JUNCTION fluctuating weakness, affects
• Junction is found in the middle of the cranially innervated muscles
bulk of the muscle fiber (diplopia, difficulty in swallong, facial
• Motor point – where the nerve will and limb weakness, generalized
enter the muscle weakness and respiratory failure),
• Each muscle has its own myoneural easy fatigability.
junction • DIAGNOSTIC TESTS: tensilon test,
decrement on repetitive nerve
MYELINATED FIBERS stimulation, positive Ach receptor
• Nerve fibers becomes unmyelinated antibody
as it enters the myoneural junction • TREATMENT: anticholinesterase,
steroid, plasmapharesis,
PRESYNAPTIC thymectomy
• From the nerve
• Numerous mitochondria DISORDERS OF MUSCLE
• Has synaptic vesicles which enclose • If there is hemiparesis, think of the
the preformed acetylcholine CNS
• If there is weakness in four
POSTSYNAPTIC extremities, think of the PNS
• From the muscle (sarcolemma)
• Has synaptic clefts to increase the PNS
surface area
Anterior horn cells in the spinal cord
• Has ligand-dependent receptors

NOTE: the terminal portion of the nerve


Peripheral nerve
bulges to increase the surface area of the
myoneural junction so that acetylcholine can
bind to more receptors.
Myoneural junction
PHYSIOLOGY
• CALCIUM leaks out into the Muscle
synaptic cleft through the calcium
channels in the presynaptic area.
• Calcium gets inside the terminal ANTERIOR HORN CELL
button (presynaptic) to facilitate the • Affects the motor function
release of acetylcholine. • There is segmental weakness (the
• Acetylcholine in the synaptic area level of myotome involved can be
attaches to the receptor identified)
(postsynaptic) that leads to a • There is progressive weakness
conformational change in the
• From segemental to generalized
receptor.
weakness
• Sodium and calcium can now enter
• Will not present any sensory
the receptors to depolarize the
muscle. symptoms

MYASTHENIA GRAVIS PERIPHERAL NERVE


• Has normal myoneural junction • Motor plus sensory component
• Presence of antibodies block the • Generalized weakness
acetylcholine receptors thereby • Symmetrical and distal in distribution
inhibiting its effect

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• Example: difficulty in buttoning shirt, • non-specific changes
use of utensils but can lift arms
5. biochemical exam
MUSCLE • genetic markers
• Motor component
• Distribution is proximal
• Can be symmetric or asymmetric NOTE: one muscle fiber is like one strand of
• Example: can’t get up from the hair (about 50um)
chair
PROGRESSIVE MUSCLAR DYSTROPHY
CLINICAL MANIFESTATIONS OF CLINICAL PATTERN USUAL
WEAKNESS: INHERITANCE
1. inability to ambulate/ atrophy of proximal DUCHENNE DYSTROPHY X-LINKED
muscles BECKER’S DYSTROPHY X-LINKED
• pelvic and shoulder girdle muscles LIMB-GIRDLE AUTOSOMAL
• example: difficulty in getting up from RECESSIVE
SCAPULOHUMERAL AUTOSOMAL
stool or toilet bowl, difficulty in
RECESSIVE
combing hair
FASCIOSAPULOHUMERAL AUTOSOMAL
2. gower’s maneuver DOMINANT
OCULOPHARYNGEAL AUTOSOMAL
• generalized muscle weakness
DOMINANT
• example: difficulty in getting up from
sitting on the floor (Indian sit) NOTE: becker’s is less severe than
duchenne.
3. respiratory embarrassment/failure : autosomal recessive – male and
• severe disorder female are both affected, will not spare a
generation
NOTE: sensory is still intact
DUCHENNE MUSCULAR DYSTROPHY
DIAGNOSTIC TEST: • dystrophinopathies (chromosome xp21)
1. Creatinine Kinase
• peculiar way of walking (waddling gait-
• Normally found inside the muscle
protruding abdomen due to weak spinal
and normally leaks out from it in muscles
small amounts specially during
• progressive muscle weakness
exercise
• onset is around 5-7 y/o
• Normal value: <14 iu
• wheelchair bound by the age of 12-15
• Increased when there is destruction
of muscle membrane • usual complication is respiratory infxn

2. electromyography STUDY:
• done by inserting a needle into a • duchenne
muscle • beckers
• take note of the response of the • limb-girdle
muscle • inflammatory myopathy
• dermatopolymyositis
3. pedigree/chromosomal studies • periodic paralysis – associated
• to assess the inheritance pattern flaccidity, tendency of remission and
• to indicate the transmission of relapse
disease
• affects 50% of children if sex-linked
• 50% are carriers

4. muscle biopsy

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