Neuromuscular I Flashcards
giant axonal neuropathy (GAN)
autosomal recessive disorder that manifests in early childhood. Predominantly axonal Sensorimotor neuropathy, corticospinal tract involvement with upper motor neuron signs, and optic atrophy leading to vision loss.
Neuropath large focal axonal swelling that contains tightly packed disorganized neurofilaments. GAN gene that encodes for gigaxonin
Refsum’s disease (RD)
autosomal dominant peroxisomal disorder. Fatty acid metabolism, leading to accumulation of an intermediate in this pathway, phytanic acid. retinitis pigmentosa (with night blindness and visual field constriction), cardiomyopathy, and skin change. Large-fiber sensorimotor neuropathy, hearing loss, anosmia, ataxia, and cerebellar signs
Rx reduce dietary intake of phytanic acid
F wave obtained by?
after supramaximal stimulation of a motor nerve.
Significant axon loss lesions?
produce reductions in action potential amplitudes and tend to have preserved or mildly reduced conduction velocities
NCS modalities?
sensory and motor conduction studies.
Sensory NCS
stimulating a sensory nerve while recording the transmitted potential at a different site along the same nerve. Three main measures can be obtained: SNAP amplitude, sensory latency (onset and peak), and conduction velocity.
SNAP
amplitude (in microvolts) represents a measure of the number of axons conducting between the stimulation site and the recording site.
Sensory latency
(in milliseconds) is the time that it takes for the action potential to travel between the stimulation site and the recording site of the nerve.
conduction velocity
is measured in meters per second and is obtained dividing the distance between stimulation site and the recording site by the latency: Conduction velocity = Distance/Latency.
Motor NCS
are obtained by stimulating a motor nerve and recording at the belly of a muscle innervated by that nerve
Motor CMAP
CMAP is the resulting response, and depends on the motor axons transmitting the action potential, status of the neuromuscular junction, and muscle fibers.
CMAP/SNAP interpretation
prolonged latencies and slow conduction velocities correlate with demyelination, decrease in the amplitudes correlates with axon loss lesions.Low amplitudes can result from demyelinating conduction block when the nerve stimulation is proximal to the block.
F-wave
F-wave is obtained after supramaximal stimulation of a motor nerve while recording from a muscle.travels antidromically (conduction along the axon opposite to the normal direction of impulses) along the motor axons toward the motor neuron, backfiring and then traveling orthodromically (conduction along the motor axon in the normal direction) down the nerve to be recorded at the muscle.
H-wave
H-reflex is the electrophysiologic equivalent of the ankle reflex (S1 reflex arc) and is obtained by stimulating the tibial nerve at the popliteal fossa while recording at the soleus. The electrical impulse travels orthodromically through a sensory afferent, enters the spinal cord, and synapses with the anterior horn cell, traveling down the motor nerve to be recorded at the muscle.
Large polyphasic motor unit potentials (MUPs)
seen in acute neuropathic lesions, but rather in chronic ones.
Insertional activity
is recorded as the needle is inserted into a relaxed muscle. It is increased in denervated muscles and myotonic disorders, and is decreased when the muscle is replaced by fat or connective tissue and during episodes of periodic paralysis
Spontaneous activity
is assessed with the muscle at rest, and examples include fibrillation potentials, fasciculation potentials, and myokymia and myotonic potentials. All spontaneous activity is abnormal.
Voluntary contraction
MUPs are obtained while the needle is inserted into the muscle during voluntary contraction. Characteristics include recruitment pattern and MUP morphologic features, such as duration, amplitude, and configuration.
Recruitment
is a measure of the number of MUPs firing during increased force of voluntary muscle contraction
Axon loss lesions
reduced recruitment is characterized by a less-than-expected number of MUPs firing more rapidly than expected.
Myopathic processes
Early or rapid recruitment occurs in myopathic processes with loss of muscle fibers, in which an excessive number of short-duration and small-amplitude MUPs fire during the muscle contraction.
Poor voluntary effort or with CNS disorders
causing weakness, recruitment is reduced with normal MUPs firing at slow or moderate rates, sometimes in a variable fashion
neuropathic disorders with denervation and reinnervation
MUPs disclose increased duration and amplitude, and may be polyphasic
myopathic disorders
MUPs are of reduced duration and amplitude, and may also be polyphasic.