Neurophysiology and Muscle Physiology
Every reflex you test with a hammer, every muscle you grade on a five point scale and every patient who describes burning, tingling or weakness is telling you something about excitable membranes. This chapter builds neuromuscular physiology from the ion up, through synapses, receptors and reflex arcs, to the contraction of skeletal, smooth and cardiac muscle. Physiology carries a large share of Part I, and these mechanisms return again in pathology, pharmacology and every neurological exam you will ever perform.
By the end of this chapter you can
- Explain how the Na+/K+ ATPase, leak channels and the Nernst and Goldman relationships set the resting membrane potential.
- Describe each phase of the action potential, the absolute and relative refractory periods, and how myelin and diameter set conduction velocity.
- Classify nerve fibers by the Erlanger Gasser and Lloyd Hunt systems and match each class to its function.
- Trace transmitter release from calcium entry through SNARE fusion to receptor binding, and contrast ionotropic and metabotropic receptors.
- Explain muscle spindle and Golgi tendon organ function, the stretch and withdrawal reflexes, and gate control of pain.
- Distinguish upper from lower motor neuron lesions by their signs.
- Describe excitation contraction coupling, the cross bridge cycle, the length tension relationship and motor unit recruitment.
- Compare skeletal, smooth and cardiac muscle, including the latch state and calcium handling.
- Match the phosphagen, glycolytic and oxidative energy systems to exercise duration and fiber type.
Section 1Membranes, resting potential and the action potential
The membrane as a capacitor with gates
The plasma membrane is a phospholipid bilayer that ions cannot cross on their own. Charged particles move only through proteins: channels (passive, fast, down an electrochemical gradient), carriers (facilitated diffusion), and pumps (primary active transport using ATP). Because the bilayer separates two conducting solutions, it behaves as a capacitor. Only a tiny number of ions need to cross to change the voltage across it, which is why the bulk concentrations inside and outside a neuron barely change during a single action potential.
The key concentration gradients in a typical mammalian neuron are shown below. Sodium, chloride and calcium are high outside; potassium and organic anions are high inside.
| Ion | Intracellular (mM) | Extracellular (mM) | Approximate equilibrium potential |
|---|---|---|---|
| Na+ | about 12 to 15 | about 145 | +60 to +65 mV |
| K+ | about 140 to 150 | about 4 to 5 | -90 to -95 mV |
| Cl- | about 7 to 10 | about 105 to 110 | about -70 to -80 mV |
| Ca2+ (free) | about 0.0001 | about 2 to 2.5 | about +120 to +130 mV |
Equilibrium potentials: the Nernst idea
If a membrane were permeable to only one ion, that ion would diffuse down its concentration gradient until the electrical force pulling it back exactly balanced the chemical force pushing it out. The voltage at which this balance occurs is the ion's equilibrium (Nernst) potential. At body temperature the Nernst equation simplifies to E = (61.5 / z) log ([ion]outside / [ion]inside), where z is the ion's valence. For potassium, a roughly 30 fold higher concentration inside gives about -90 mV. For sodium, about 10 fold higher outside gives about +60 mV. Note the sign convention: the inside is always reported relative to the outside.
Two consequences matter clinically. First, the potassium equilibrium potential depends heavily on extracellular potassium, because extracellular potassium is low and small absolute changes alter the ratio greatly. Hyperkalemia makes E(K) less negative and depolarizes cells; hypokalemia hyperpolarizes them. Second, the driving force on any ion is the difference between the membrane potential and that ion's equilibrium potential (Vm minus E ion). The bigger the difference, the stronger the push when a channel opens.
The resting membrane potential: the Goldman idea
Real membranes are permeable to several ions at once. The Goldman Hodgkin Katz equation weights each ion's concentration gradient by its permeability. At rest, neurons have many open potassium leak channels (two pore domain and inward rectifier types), so potassium permeability dominates and the resting potential (about -70 mV in neurons, about -90 mV in skeletal and ventricular muscle) sits close to E(K). It is a little less negative than E(K) because a small sodium leak pulls it toward E(Na). Whichever ion has the highest permeability at a moment drags the membrane toward its own equilibrium potential: that single principle explains the resting potential, the upstroke and repolarization.
The Na+/K+ ATPase moves 3 Na+ out and 2 K+ in per ATP. It maintains the gradients that leak channels use, and because it moves net positive charge out it is electrogenic, contributing only a few millivolts directly. Its main job is long term: block it with digitalis (ouabain, digoxin) or starve it of ATP in ischemia, and the gradients slowly run down, cells depolarize and swell.
Graded potentials
Graded potentials are local changes in membrane potential at dendrites, cell bodies and sensory endings: excitatory and inhibitory postsynaptic potentials, receptor (generator) potentials and the end plate potential. They vary in size with stimulus strength, can be depolarizing or hyperpolarizing, decay with distance (decremental conduction) and can summate. How far they spread is set by the length constant (lambda), which increases with higher membrane resistance and lower internal (axial) resistance. The time constant (resistance times capacitance) sets how quickly they rise and fall.
The action potential
The action potential is an all or none, regenerative, non decremental depolarization that travels along axons and muscle fibers. It begins when graded depolarization at the axon initial segment (or axon hillock), which has the highest density of voltage gated sodium channels, reaches threshold (about -55 mV in neurons).
- Upstroke (depolarization). Voltage gated Na+ channels open their activation (m) gates. Sodium entry depolarizes the membrane, which opens more sodium channels: a positive feedback loop (the Hodgkin cycle). The membrane overshoots zero and approaches, but never reaches, E(Na), peaking near +30 to +40 mV.
- Peak and inactivation. Within about a millisecond the slower inactivation (h) gates close the sodium channels. They cannot reopen until the membrane repolarizes and the h gate resets.
- Repolarization. Voltage gated (delayed rectifier) K+ channels open more slowly than sodium channels. Potassium leaves, returning the membrane toward rest.
- Afterhyperpolarization (undershoot). Potassium channels close slowly, so for a few milliseconds total potassium conductance exceeds that at rest and the membrane dips toward E(K).
Threshold is the voltage at which inward sodium current just exceeds outward potassium and leak current. A stimulus that depolarizes slowly can fail to fire because sodium channels inactivate as they open, a phenomenon called accommodation. The pump plays no direct role in a single spike: an action potential still fires for thousands of cycles after the pump is poisoned.
Refractory periods
During the absolute refractory period no stimulus, however strong, can trigger a second action potential, because most sodium channels are inactivated. It lasts from threshold until repolarization is largely complete, and it limits maximum firing frequency (roughly 1 kHz for large neurons). During the relative refractory period, which overlaps the afterhyperpolarization, a stronger than normal stimulus can fire the cell: some sodium channels have recovered, but potassium conductance is still elevated and the membrane is farther from threshold. Refractoriness also forces one way propagation in the normal axon, because the patch just behind the advancing spike cannot fire again.
Conduction and myelination
An action potential spreads because local currents flow from the active region to adjacent resting membrane and depolarize it to threshold. Conduction velocity rises with axon diameter (lower internal resistance) and with myelination (higher membrane resistance and lower capacitance, so current spreads farther and charges the membrane faster). Myelin is formed by oligodendrocytes in the CNS (one cell wraps many axons) and Schwann cells in the PNS (one cell per internode). Voltage gated sodium channels cluster at the nodes of Ranvier, so the impulse jumps from node to node: saltatory conduction. It is faster and also metabolically cheaper, because ion exchange occurs only at nodes.
Demyelination slows or blocks conduction. In multiple sclerosis (CNS) and Guillain Barré syndrome (PNS), current leaks through the bare internode and may fail to reach threshold at the next node. Warmth worsens conduction in demyelinated fibers (Uhthoff phenomenon) because sodium channels inactivate faster at higher temperature.
Nerve fiber classification
Two systems coexist. The Erlanger Gasser (letter) system applies to all fibers, sensory and motor, and sorts them by conduction velocity. The Lloyd Hunt (Roman numeral) system applies to sensory fibers from muscle and skin. Boards test the matches.
| Letter class | Sensory equivalent | Diameter and myelin | Velocity (m/s) | Function |
|---|---|---|---|---|
| A alpha | Ia, Ib | 12 to 20 µm, heavy myelin | 70 to 120 | Muscle spindle primary (Ia), Golgi tendon organ (Ib), alpha motor neurons |
| A beta | II | 6 to 12 µm, myelinated | 30 to 70 | Touch, pressure, vibration, spindle secondary endings |
| A gamma | none | 3 to 6 µm, myelinated | 15 to 30 | Gamma motor neurons to intrafusal fibers |
| A delta | III | 1 to 5 µm, thin myelin | 5 to 30 | Fast, sharp, well localized pain; cold |
| B | none | 1 to 3 µm, thin myelin | 3 to 15 | Preganglionic autonomic |
| C | IV | 0.2 to 1.5 µm, unmyelinated | 0.5 to 2 | Slow, burning, poorly localized pain; warmth; itch; postganglionic sympathetic |
Susceptibility to block differs by mechanism. Local anesthetics block small fibers first (C and B, then A delta), so pain and autonomic function disappear before touch and motor power. Pressure and ischemia affect large myelinated fibers first, which is why a "dead leg" from sitting on the sciatic nerve loses proprioception and motor function before pain. Hypoxia affects B fibers most.
Concentration gradients built by the Na+/K+ ATPase plus selective permeability set the resting potential near E(K). An action potential is a brief switch in dominant permeability from potassium to sodium and back, driven by voltage gated channels with fast activation and slower inactivation. Refractory periods follow from sodium channel inactivation; conduction speed follows from diameter and myelin; and fiber classes map directly to the sensations and functions a clinician tests.
Section 2Synapses and neurotransmitters
Electrical and chemical synapses
An electrical synapse is a gap junction: connexin proteins (six form a connexon, two connexons span the gap) create a pore that lets ions and small molecules pass directly from cell to cell. Transmission is nearly instantaneous, usually bidirectional, and synchronizes groups of cells. Gap junctions couple cardiac myocytes at intercalated discs, single unit smooth muscle cells, some brainstem and hypothalamic neurons, and glia. A chemical synapse releases a transmitter across a cleft of about 20 to 40 nm. It is slower (a synaptic delay of about 0.5 ms), strictly one way, and can amplify, invert (inhibit) and modulate signals. Nearly all synapses tested on boards are chemical.
Release: from spike to vesicle fusion
- The action potential invades the presynaptic terminal and opens voltage gated calcium channels (N and P/Q types at most neuronal and neuromuscular terminals).
- Calcium enters and binds synaptotagmin, the calcium sensor on docked vesicles.
- The SNARE complex zips together: v SNARE synaptobrevin on the vesicle pairs with t SNAREs syntaxin and SNAP 25 on the membrane, pulling the membranes into fusion.
- Transmitter is released by exocytosis in discrete packets, or quanta, each the contents of one vesicle. A spontaneous single quantum at the neuromuscular junction produces a miniature end plate potential.
- Vesicle membrane is retrieved by clathrin mediated endocytosis (dynamin pinches it off) and refilled by vesicular transporters driven by a proton gradient.
Release depends steeply on calcium: roughly the fourth power of calcium concentration in the terminal. Botulinum toxin and tetanus toxin are proteases that cleave SNARE proteins. Botulinum acts at peripheral cholinergic terminals and causes descending flaccid paralysis. Tetanus toxin travels retrograde to the spinal cord and blocks release of glycine and GABA from inhibitory Renshaw and interneurons, causing spastic paralysis, trismus and opisthotonus. Lambert Eaton syndrome produces antibodies against presynaptic voltage gated calcium channels; weakness improves with repeated effort as calcium accumulates.
Receptors: ionotropic and metabotropic
Ionotropic receptors are ligand gated ion channels. They act in milliseconds. Examples: nicotinic acetylcholine receptors (Na+ and K+, excitatory), AMPA and kainate glutamate receptors (Na+ and K+), NMDA glutamate receptors (Ca2+ plus Na+, blocked by Mg2+ at rest), GABA-A and glycine receptors (Cl-, inhibitory) and 5-HT3 serotonin receptors. Metabotropic receptors are G protein coupled receptors that act over hundreds of milliseconds to minutes through second messengers. Examples: muscarinic, adrenergic, dopamine, most serotonin, GABA-B, metabotropic glutamate and opioid receptors.
| G protein | Main effector | Second messenger result | Examples |
|---|---|---|---|
| Gs | Stimulates adenylyl cyclase | Raises cAMP, activates protein kinase A | Beta 1, beta 2, D1, H2, V2 |
| Gi | Inhibits adenylyl cyclase; opens K+ channels | Lowers cAMP; hyperpolarizes | Alpha 2, M2, D2, GABA-B, mu opioid |
| Gq | Activates phospholipase C | IP3 releases Ca2+; DAG activates protein kinase C | Alpha 1, M1, M3, H1, V1, AT1 |
Postsynaptic potentials and summation
An EPSP depolarizes the postsynaptic membrane, usually by opening channels permeable to both Na+ and K+, whose combined reversal potential is near 0 mV. An IPSP usually opens Cl- or K+ channels, holding the membrane near or below rest. When E(Cl) equals the resting potential, opening chloride channels produces no voltage change but still inhibits by shunting: it clamps the membrane and short circuits excitatory current. A single EPSP at a central synapse is often only 0.5 to 1 mV, far below what is needed to reach threshold, so neurons integrate many inputs.
- Temporal summation: successive inputs from one synapse arrive before the previous potential decays (favored by a long time constant).
- Spatial summation: simultaneous inputs from different synapses add (favored by a long length constant).
- Presynaptic inhibition: an axoaxonic synapse reduces calcium entry into another terminal, selectively reducing its release; this is a key mechanism in spinal pain modulation.
The axon initial segment is the integration point because it has the lowest threshold. Synapses on the cell body and near the initial segment (often inhibitory) have more influence than distant dendritic synapses.
The neuromuscular junction
At the skeletal neuromuscular junction, one motor axon spike releases about 100 to 200 quanta of acetylcholine. ACh binds nicotinic receptors (NM type, two ACh molecules per receptor) concentrated on the crests of junctional folds. The end plate potential is large, well above what is needed, so transmission normally has a generous safety factor: every motor nerve spike produces a muscle spike. Acetylcholinesterase in the basal lamina hydrolyzes ACh to acetate and choline within about a millisecond, and choline is taken back up by a sodium coupled transporter (the rate limiting step for ACh synthesis, blocked by hemicholinium). ACh itself is made from acetyl CoA and choline by choline acetyltransferase and loaded into vesicles by the vesicular ACh transporter.
| Disorder or drug | Site | Mechanism and result |
|---|---|---|
| Myasthenia gravis | Postsynaptic | Antibodies to nicotinic ACh receptors; fatigable weakness worse with use, ptosis, diplopia; improves with cholinesterase inhibitors |
| Lambert Eaton syndrome | Presynaptic | Antibodies to voltage gated Ca2+ channels; proximal weakness that improves with repetition; associated with small cell lung cancer |
| Botulism | Presynaptic | Cleaves SNAREs; no ACh release; descending flaccid paralysis |
| Organophosphates, nerve agents | Cleft | Irreversibly inhibit acetylcholinesterase; muscarinic excess (salivation, lacrimation, urination, bronchorrhea) plus nicotinic fasciculation then paralysis |
| Curare (tubocurarine), rocuronium | Postsynaptic | Competitive nondepolarizing blockade; reversed by neostigmine |
| Succinylcholine | Postsynaptic | Depolarizing blocker; persistent depolarization inactivates Na+ channels; fasciculations then flaccid paralysis |
The major transmitters and their pathways
| Transmitter | Synthesized from | Main sources | Key roles and associations |
|---|---|---|---|
| Acetylcholine | Choline plus acetyl CoA | Motor neurons, all preganglionic autonomic, parasympathetic postganglionic, basal nucleus of Meynert | Muscle contraction, rest and digest, memory; reduced in Alzheimer disease |
| Dopamine | Tyrosine to L-DOPA | Substantia nigra pars compacta, ventral tegmental area, arcuate nucleus | Movement (nigrostriatal), reward (mesolimbic), inhibits prolactin (tuberoinfundibular); low in Parkinson disease |
| Norepinephrine | Dopamine via dopamine beta hydroxylase | Locus coeruleus, sympathetic postganglionic | Arousal, attention, fight or flight |
| Serotonin (5-HT) | Tryptophan | Raphe nuclei | Mood, sleep, appetite, descending pain inhibition |
| Histamine | Histidine | Tuberomammillary nucleus of hypothalamus | Wakefulness |
| Glutamate | Glutamine, alpha ketoglutarate | Most excitatory neurons, primary afferents | Main CNS excitatory transmitter; excitotoxicity |
| GABA | Glutamate via glutamic acid decarboxylase (needs B6) | Interneurons, Purkinje cells, striatum | Main brain inhibitory transmitter; low in Huntington disease |
| Glycine | Serine | Spinal interneurons, Renshaw cells | Main spinal inhibitory transmitter; blocked by strychnine |
| Substance P | Peptide | C fiber nociceptors, dorsal horn | Pain transmission, neurogenic inflammation |
| Endorphins, enkephalins | Peptides (POMC, proenkephalin) | Periaqueductal gray, dorsal horn interneurons | Pain suppression via opioid receptors |
| Nitric oxide | Arginine | Many neurons, endothelium | Diffusible retrograde messenger, vasodilation via cGMP |
Neurons often co release a small molecule transmitter with a neuropeptide; peptides, stored in large dense core vesicles, need higher firing frequencies, are cleared by diffusion and must be resynthesized in the cell body. Reuptake transporters clear most amines and amino acids (SSRIs block SERT; cocaine blocks NET, DAT and SERT), while MAO and COMT degrade catecholamines.
Chemical transmission converts an electrical spike into calcium entry, SNARE mediated quantal release and receptor binding. Ionotropic receptors give fast EPSPs and IPSPs; metabotropic receptors give slow modulation through Gs, Gi and Gq. Neurons integrate inputs by temporal and spatial summation at the initial segment. Toxins and diseases map neatly onto each step, and the major transmitters each have signature nuclei and disorders.
Section 3Sensory and motor physiology
Receptors and transduction
A sensory receptor converts a stimulus into a receptor (generator) potential, a graded depolarization that, if large enough, fires action potentials in the afferent axon. Each receptor has an adequate stimulus, the form of energy to which it is most sensitive (the law of specific nerve energies: activation of a pathway produces its own sensation however it is stimulated, which is why pressing on the eye makes you "see" light). Stimulus intensity is coded by frequency of firing and by the number of receptors recruited (population coding). Location is coded by which fibers fire, and spatial resolution depends on receptive field size and receptor density; the fingertips and lips have small fields and the best two point discrimination.
Adaptation is a fall in firing during a constant stimulus. Tonic (slowly adapting) receptors signal sustained stimuli: Merkel discs (pressure, texture), Ruffini endings (skin stretch), muscle spindles, Golgi tendon organs, nociceptors and baroreceptors. Phasic (rapidly adapting) receptors signal change: Meissner corpuscles (light touch, flutter), Pacinian corpuscles (vibration, especially near 250 Hz; the onion like capsule filters out sustained pressure) and hair follicle receptors.
| Receptor | Location | Adaptation | Modality | Fiber |
|---|---|---|---|---|
| Free nerve endings | Skin, viscera, joints | Slow | Pain, temperature, itch, crude touch | A delta, C |
| Meissner corpuscle | Dermal papillae, glabrous skin | Fast | Light discriminative touch, low frequency vibration | A beta |
| Pacinian corpuscle | Deep dermis, joints, periosteum | Very fast | High frequency vibration, deep pressure change | A beta |
| Merkel disc | Basal epidermis | Slow | Sustained pressure, texture, shape | A beta |
| Ruffini ending | Dermis, joint capsules | Slow | Skin stretch, joint angle | A beta |
| Muscle spindle | Within skeletal muscle | Primary fast and slow components | Muscle length and rate of change | Ia, II |
| Golgi tendon organ | Musculotendinous junction | Slow | Muscle tension | Ib |
Pain physiology
Nociceptors are free nerve endings that respond to tissue damaging mechanical, thermal or chemical stimuli. A delta fibers carry first (fast) pain, sharp and well localized, and synapse mainly in laminae I and V of the dorsal horn using glutamate. C fibers carry second (slow) pain, burning, aching and poorly localized, and synapse in laminae I and II (the substantia gelatinosa) using glutamate and substance P.
Injured tissue releases bradykinin, prostaglandins (especially PGE2), histamine, serotonin, potassium and H+. Prostaglandins do not cause pain much by themselves but lower nociceptor threshold: this is peripheral sensitization and the basis of NSAID analgesia. Antidromic release of substance P and CGRP from C fiber terminals causes vasodilation and plasma extravasation: neurogenic inflammation. Repetitive C fiber input to the dorsal horn produces wind up and central sensitization (NMDA receptor dependent), giving hyperalgesia (more pain from a painful stimulus) and allodynia (pain from a normally innocuous stimulus such as light touch).
Referred pain arises because visceral and somatic afferents converge on the same dorsal horn projection neurons (convergence projection theory): cardiac ischemia felt in the left arm and jaw (T1 to T4), diaphragmatic irritation in the shoulder (C3 to C5), appendicitis first around the umbilicus (T10).
Gate control and descending modulation
The gate control theory (Melzack and Wall) proposes that large diameter A beta touch fibers excite inhibitory interneurons in the substantia gelatinosa, which in turn inhibit transmission from nociceptive fibers to the projection (T) cells of the spinothalamic tract. Small fiber input inhibits those same interneurons, "opening the gate." Rubbing a bumped elbow, TENS, vibration and manual therapy all exploit this mechanism.
The brain also closes the gate from above. The periaqueductal gray (midbrain) excites the rostral ventromedial medulla, including the nucleus raphe magnus (serotonin), and the locus coeruleus sends noradrenergic fibers; both descend in the dorsolateral funiculus to the dorsal horn, where they activate enkephalin interneurons. Enkephalins act on mu and delta opioid receptors to cause presynaptic inhibition (less calcium entry, less substance P release) and postsynaptic hyperpolarization. Stress induced analgesia, placebo analgesia and part of the analgesic effect of spinal manipulation are thought to engage this descending system.
Muscle spindles and Golgi tendon organs
The muscle spindle lies in parallel with ordinary (extrafusal) muscle fibers and senses length and rate of change of length. Inside its capsule are intrafusal fibers: nuclear bag fibers (dynamic and static) and nuclear chain fibers. Group Ia primary (annulospiral) endings wrap all intrafusal fibers and respond to both length and velocity (dynamic response). Group II secondary (flower spray) endings lie mainly on chain and static bag fibers and signal static length. Gamma motor neurons innervate the contractile poles of intrafusal fibers. When the muscle shortens, the spindle would go slack and stop reporting; alpha gamma coactivation contracts the intrafusal poles in step with the extrafusal fibers, keeping the spindle taut and sensitive throughout movement. Increased gamma drive raises spindle sensitivity and reflex gain.
The Golgi tendon organ lies in series with extrafusal fibers at the musculotendinous junction. Its Ib afferent endings are squeezed between collagen strands when the tendon is loaded, so it signals tension, especially tension produced by active contraction. It is sensitive throughout the normal range, not only at dangerous loads.
Spinal reflexes
| Reflex | Receptor and afferent | Synapses | Response |
|---|---|---|---|
| Stretch (myotatic, deep tendon) reflex | Muscle spindle, Ia | Monosynaptic onto alpha motor neurons | Contraction of the stretched muscle; reciprocal inhibition of the antagonist |
| Inverse myotatic (autogenic inhibition) | Golgi tendon organ, Ib | Disynaptic via inhibitory interneuron | Relaxation of the tensed muscle; facilitation of the antagonist |
| Flexor withdrawal | Nociceptors, A delta and C (flexor reflex afferents) | Polysynaptic | Ipsilateral flexion, ipsilateral extensor inhibition |
| Crossed extensor | Same as withdrawal | Polysynaptic, crosses midline | Contralateral extension to support weight |
The deep tendon reflex tests the whole arc: receptor, afferent, root, cord segment, alpha motor neuron, neuromuscular junction and muscle. Standard levels: biceps C5 to C6, brachioradialis C6, triceps C7, patellar L4 (L2 to L4), Achilles S1. Renshaw cells are glycinergic interneurons excited by alpha motor neuron collaterals; they feed back to inhibit the same and synergistic motor neurons (recurrent inhibition), limiting firing rate. The Jendrassik maneuver (clenching teeth or pulling hooked fingers apart) increases gamma drive and facilitates a hard to elicit reflex.
The motor control hierarchy
Motor control is organized in levels. The spinal cord contains the final common pathway (alpha motor neurons), reflex circuits and central pattern generators for rhythmic stepping. The brainstem (vestibulospinal, reticulospinal and tectospinal tracts) controls posture, balance, head and eye orientation and axial and proximal muscles. The motor cortex (primary motor area 4, premotor and supplementary motor areas 6) plans and commands voluntary, especially fine distal, movement through the corticospinal and corticobulbar tracts. Two side loops refine commands without projecting directly to the cord. The cerebellum compares intended with actual movement and corrects errors in timing, coordination and smoothness; damage gives ipsilateral ataxia, dysmetria, intention tremor and dysdiadochokinesia. The basal ganglia select wanted movements and suppress unwanted ones through the direct (facilitates movement, D1) and indirect (inhibits movement, D2) pathways; damage gives hypokinetic (Parkinson disease) or hyperkinetic (Huntington chorea, hemiballismus) disorders with resting tremor and rigidity rather than weakness.
Upper versus lower motor neuron signs
The upper motor neuron (UMN) runs from cortex or brainstem to the anterior horn; the lower motor neuron (LMN) runs from the anterior horn (or cranial nerve nucleus) to the muscle. The pattern of signs locates a lesion and is among the most tested topics in neurophysiology.
| Feature | Upper motor neuron lesion | Lower motor neuron lesion |
|---|---|---|
| Weakness | Groups of muscles in a pyramidal pattern (extensors in arm, flexors in leg) | Individual muscles in a root, nerve or segment pattern |
| Tone | Increased (spasticity, velocity dependent) | Decreased (flaccid) |
| Deep tendon reflexes | Hyperreflexia, clonus | Hyporeflexia or areflexia |
| Plantar response | Extensor (Babinski sign); Hoffmann sign in the hand | Flexor or absent |
| Atrophy | Mild, from disuse, late | Marked, early |
| Fasciculations | Absent | Present |
| Superficial reflexes (abdominal, cremasteric) | Lost | May be preserved unless the segment is involved |
In the acute phase of a UMN lesion (spinal shock or acute stroke) tone and reflexes are depressed for days to weeks before spasticity appears. Amyotrophic lateral sclerosis characteristically produces both UMN and LMN signs, sometimes in the same limb, with sensation spared.
Receptors convert stimuli to graded generator potentials coded by frequency and adapt slowly or quickly. Pain travels on A delta and C fibers, is amplified by sensitization and is damped by gate control and descending opioid systems. Spindles (parallel, length, Ia) and tendon organs (series, tension, Ib) feed the spinal reflexes that the hammer tests. The motor hierarchy runs from cortex through brainstem to cord, with cerebellar and basal ganglia loops, and UMN versus LMN signs locate the lesion.
Section 4Skeletal muscle physiology
Structure that explains function
A skeletal muscle is made of fascicles, each a bundle of multinucleated muscle fibers (cells), each packed with myofibrils, each a chain of sarcomeres, the contractile unit running from one Z line (Z disc) to the next. Thin filaments are actin with the regulatory proteins tropomyosin and troponin (troponin C binds calcium, troponin I inhibits actin myosin interaction, troponin T binds tropomyosin) and are anchored at the Z line. Thick filaments are myosin II, each molecule with two heads that carry an ATPase site and an actin binding site, anchored at the M line. The giant elastic protein titin runs from Z line to M line, centers the thick filament and provides passive tension when the muscle is stretched. Nebulin sets thin filament length. Dystrophin links the cytoskeleton through the sarcolemma to the extracellular matrix; its absence (Duchenne) or truncation (Becker) makes the membrane fragile.
| Band or zone | Contains | During contraction |
|---|---|---|
| A band | Full length of thick filaments (with overlapping thin) | Stays the same length |
| I band | Thin filaments only, bisected by the Z line | Shortens |
| H zone | Thick filaments only, center of A band | Shortens or disappears |
| M line | Proteins linking thick filaments | Stays centered |
| Sarcomere (Z to Z) | One contractile unit, about 2.0 to 2.2 µm at rest | Shortens |
Excitation contraction coupling
Excitation contraction coupling links the muscle action potential to the rise in cytosolic calcium that starts contraction.
- ACh at the end plate triggers an end plate potential and then a muscle action potential that spreads along the sarcolemma.
- The action potential dives into the fiber along transverse (T) tubules, which in skeletal muscle lie at the A band to I band junction, two per sarcomere, flanked by terminal cisternae of the sarcoplasmic reticulum (a triad).
- T tubule depolarization changes the shape of the dihydropyridine receptor (DHPR), an L type calcium channel that in skeletal muscle acts mainly as a voltage sensor.
- The DHPR is mechanically coupled to the ryanodine receptor (RyR1) in the SR membrane, which opens and releases stored calcium into the cytosol. Skeletal muscle does not need extracellular calcium entry to contract.
- Calcium binds troponin C, shifting tropomyosin off the myosin binding sites on actin.
- Cross bridge cycling proceeds until calcium is pumped back into the SR by SERCA (sarcoplasmic and endoplasmic reticulum Ca2+ ATPase), where it is held by calsequestrin. Relaxation therefore also requires ATP.
The cross bridge cycle
- Rigor (attached) state: myosin head bound to actin, no nucleotide.
- ATP binds to the myosin head, reducing its affinity for actin; the head detaches.
- ATP is hydrolyzed to ADP and Pi, which stay bound; the head swings into the cocked, high energy position.
- Weak binding to a new actin site (possible only if calcium has moved tropomyosin).
- Pi release triggers the power stroke: the head pivots, pulling the thin filament about 10 nm toward the M line.
- ADP release returns the head to the rigor state, ready for another ATP.
ATP has three roles in muscle: powering the cross bridge (hydrolysis), detaching myosin from actin (binding) and pumping calcium back into the SR (SERCA), plus running the Na+/K+ ATPase. Without ATP, heads remain locked to actin: rigor mortis, which begins a few hours after death and resolves as proteins degrade.
Twitch, summation and tetanus
A single action potential produces a twitch. Because the muscle action potential lasts only 2 to 4 ms while the twitch lasts tens of milliseconds, a second stimulus can arrive before relaxation is complete, adding force: summation (wave summation). At higher frequencies twitches fuse into a smooth sustained contraction, tetanus, with force several times that of a single twitch, because calcium stays high and the series elastic elements are fully stretched. Skeletal muscle can be tetanized because its refractory period is far shorter than its contraction; cardiac muscle cannot (Section 5).
Length tension and force velocity
Isometric force depends on sarcomere length. Active tension peaks at the optimal length (about 2.0 to 2.2 µm), where overlap between thin filaments and the cross bridge region of thick filaments is maximal. When the muscle is stretched beyond that, overlap falls and active force declines; when shortened, thin filaments overlap one another and thick filaments butt against Z lines, also reducing force. Passive tension, from titin and connective tissue, rises steeply as the muscle is stretched past resting length. Total tension is the sum. In the body, most muscles operate near the peak of the active curve.
The force velocity relationship states that the faster a muscle shortens, the less force it can produce, because fewer cross bridges are attached at any moment. Maximum velocity occurs with zero load; maximum force is isometric. During eccentric (lengthening) contraction, force can exceed isometric maximum, which is one reason eccentric exercise causes more delayed onset muscle soreness and is also used to load tendons in rehabilitation.
Motor units and recruitment
A motor unit is one alpha motor neuron plus all the muscle fibers it innervates; all fibers of a unit are the same type and contract together. Muscles for fine control (extraocular, intrinsic hand, laryngeal) have small units of a few to about 10 fibers; postural and power muscles (gastrocnemius, quadriceps) have units of hundreds to over a thousand fibers. Force is graded in two ways: recruitment of more motor units, and rate coding, increasing firing frequency toward tetanus. Recruitment follows Henneman size principle: small motor neurons (lower threshold, because a given synaptic current produces a larger voltage change across their higher input resistance) are recruited first and innervate slow, fatigue resistant fibers; large motor neurons innervating fast, fatigable fibers are recruited last, only for strong efforts. This order gives fine control at low force and keeps the fatigable units in reserve.
Fiber types
| Feature | Type I (slow oxidative) | Type IIa (fast oxidative glycolytic) | Type IIx (fast glycolytic) |
|---|---|---|---|
| Color | Red | Red to pink | White |
| Myosin ATPase speed | Slow | Fast | Fast |
| Mitochondria, capillaries, myoglobin | Many | Many to moderate | Few |
| Main ATP source | Oxidative phosphorylation | Oxidative and glycolytic | Anaerobic glycolysis, phosphocreatine |
| Glycogen | Low | Intermediate | High |
| Fatigue resistance | High | Intermediate | Low |
| Motor unit size and recruitment | Small, first | Intermediate | Large, last |
| Typical muscle | Soleus, deep postural spinal muscles (multifidus) | Mixed limb muscles | Superficial gastrocnemius bursts, extraocular (fast) |
Fiber type is set mainly by the motor neuron: cross innervation experiments convert slow to fast fibers and vice versa. Endurance training shifts IIx toward IIa and increases mitochondria and capillaries; resistance training produces hypertrophy (more myofibrils per fiber) with little true hyperplasia. Disuse, bed rest and spaceflight cause atrophy, especially of type I postural fibers.
Fatigue
Muscle fatigue is a reversible fall in force or power during sustained or repeated activity. Central fatigue arises in the CNS: reduced motor drive, motivation, serotonergic effects. Peripheral fatigue arises in the muscle: accumulation of inorganic phosphate (which reduces cross bridge force and calcium release; now considered a major contributor), reduced SR calcium release, extracellular potassium accumulation in T tubules impairing action potentials, glycogen depletion in prolonged exercise, and, to a lesser degree than once believed, H+ accumulation. Lactate itself is not the cause of fatigue and is actually a fuel that heart and type I fibers oxidize. Neuromuscular junction failure is rare in healthy people but central to myasthenia gravis.
Skeletal muscle contracts when a T tubule action potential flips the DHPR voltage sensor, which mechanically opens RyR1, releasing SR calcium that binds troponin C and lets myosin cycle on actin. ATP powers the stroke, releases the head and refills the SR. Force depends on filament overlap (length tension), shortening speed (force velocity), and the number and firing rate of motor units recruited in size order, with fiber type set by the motor neuron.
Section 5Smooth and cardiac muscle and muscle energetics
Smooth muscle structure
Smooth muscle cells are small, spindle shaped and uninucleate, with no sarcomeres and therefore no striations. Actin filaments attach to dense bodies in the cytoplasm (the functional equivalent of Z lines, containing alpha actinin) and to dense plaques on the membrane. Myosin is arranged in side polar filaments, which let filaments slide over a long distance: smooth muscle can generate force over a much wider range of lengths than skeletal muscle, an advantage for hollow organs such as bladder and uterus. Smooth muscle lacks troponin. The SR is sparse, there are no T tubules, and instead shallow membrane invaginations called caveolae sit near the SR.
Single unit and multiunit smooth muscle
| Feature | Single unit (unitary, visceral) | Multiunit |
|---|---|---|
| Gap junctions | Many; cells contract as a syncytium | Few; each cell acts independently |
| Spontaneous activity | Yes: pacemaker cells and slow waves | No; depends on nerve input |
| Control | Stretch, hormones, local factors; nerves modulate | Dense autonomic innervation, fine graded control |
| Examples | GI tract, uterus, ureter, bladder, small arterioles | Iris and ciliary muscle, arrector pili, vas deferens, large arteries and airways |
Single unit smooth muscle shows slow waves, rhythmic oscillations of membrane potential generated by interstitial cells of Cajal in the gut. Spikes, and contraction, occur when slow wave peaks reach threshold. Single unit muscle also shows the myogenic response (stretch causes contraction, important in arteriolar autoregulation) and stress relaxation (plasticity): after a filled bladder stretches, tension slowly falls back toward its prior level, so the organ can hold more volume without a large rise in pressure. Autonomic nerves release transmitter from varicosities along the axon rather than from discrete end plates.
Calcium and the regulation of smooth muscle contraction
Smooth muscle uses myosin based (thick filament) regulation. Calcium comes from two sources: extracellular entry through L type voltage gated channels, receptor operated and stretch activated channels, and release from the SR through IP3 receptors (after Gq activation) and ryanodine receptors (calcium induced calcium release).
- Calcium binds calmodulin.
- Calcium calmodulin activates myosin light chain kinase (MLCK).
- MLCK phosphorylates the regulatory light chain of myosin, allowing cross bridge cycling.
- Myosin light chain phosphatase (MLCP) dephosphorylates the light chain, causing relaxation.
The ratio of MLCK to MLCP activity sets tone. Calcium sensitization occurs through the RhoA and Rho kinase pathway, which inhibits MLCP so that more force is generated at the same calcium. Relaxation is promoted by cAMP (protein kinase A phosphorylates and inhibits MLCK; beta 2 agonists relax bronchi this way) and by cGMP (protein kinase G activates MLCP and lowers calcium; this is how nitric oxide, nitroglycerin and sildenafil act).
The latch state
When calcium and MLCK activity fall after a contraction, some myosin heads become dephosphorylated while still attached to actin. These latch bridges detach very slowly, so force is maintained with minimal cross bridge cycling and very low ATP use (up to several hundred times more economical than skeletal muscle). The latch state explains how sphincters, vascular smooth muscle and the uterus hold tone for hours without fatigue.
Cardiac muscle properties
Cardiac myocytes are striated (they have sarcomeres, troponin and tropomyosin), branched, usually have one or two central nuclei, and are joined end to end by intercalated discs containing desmosomes (mechanical coupling) and gap junctions (electrical coupling), so the atria and ventricles each behave as a functional syncytium. T tubules lie at the Z lines and pair with SR cisternae to form dyads. Mitochondria occupy about a third of cell volume, reflecting almost purely aerobic metabolism (fatty acids are the preferred fuel, plus lactate, glucose and ketones).
The key difference from skeletal muscle is calcium induced calcium release. During the plateau of the ventricular action potential, L type calcium channels (DHPRs) admit a small trigger of extracellular calcium, which opens RyR2 and releases much larger amounts from the SR. The strength of contraction therefore depends on extracellular calcium entry and SR load: catecholamines (beta 1, cAMP, protein kinase A) increase L type current and SERCA activity via phosphorylation of phospholamban, raising both contractility and relaxation rate (lusitropy). Digoxin inhibits the Na+/K+ ATPase, raising intracellular sodium, slowing the sodium calcium exchanger (NCX) and leaving more calcium in the cell for the SR: a positive inotrope.
| Property | Skeletal | Cardiac | Smooth |
|---|---|---|---|
| Striations, troponin | Yes | Yes | No (calmodulin, caldesmon) |
| T tubules | Triads at A and I junction | Dyads at Z line, wider | None (caveolae) |
| Gap junctions | No | Yes, intercalated discs | Single unit yes; multiunit few |
| Calcium source | SR via mechanical DHPR and RyR1 coupling | Trigger entry plus SR (CICR, RyR2) | Extracellular plus SR (IP3R) |
| Calcium binds | Troponin C | Troponin C | Calmodulin |
| Initiation | Neurogenic (motor neuron) | Myogenic (SA node pacemaker) | Myogenic and neurogenic |
| Tetanus possible | Yes | No (long refractory period) | Tonic contraction |
| Grading of force | Recruitment, rate coding | Contractility (calcium), preload | Calcium, sensitization |
| Regeneration | Satellite cells, good | Very limited | Good (cells divide) |
The ventricular action potential has a long plateau (phase 2) produced by L type calcium entry balanced by potassium exit, so it lasts about 250 to 300 ms, nearly as long as the contraction. The effective refractory period therefore extends until the muscle has begun to relax, which prevents summation and tetanus and guarantees that the ventricles fill between beats. Chapter 8 develops pacemaker potentials and the ECG.
Muscle energetics: where the ATP comes from
Resting muscle holds only enough ATP for a few seconds of maximal effort (about 5 to 8 mM). Three systems regenerate it, overlapping in time rather than switching on and off.
- Phosphagen system. Creatine phosphate (phosphocreatine) donates its phosphate to ADP via creatine kinase: PCr + ADP gives Cr + ATP. Stores are 3 to 5 times those of ATP and support maximal efforts of roughly 10 seconds (sprint, lift, jump). Creatine is made in liver and kidney from arginine, glycine and methionine; spontaneous breakdown of creatine phosphate produces creatinine, excreted at a rate proportional to muscle mass, which is why serum creatinine estimates kidney function. Elevated serum CK indicates muscle damage (rhabdomyolysis, muscular dystrophy, statin myopathy, intense exercise).
- Anaerobic glycolysis. Muscle glycogen and blood glucose are broken down to pyruvate in the cytosol, netting 2 ATP per glucose (3 from glycogen, because glycogen phosphorylase produces glucose 1 phosphate without spending ATP at hexokinase). When oxygen delivery or mitochondrial capacity is exceeded, lactate dehydrogenase converts pyruvate to lactate to regenerate NAD+ so glycolysis can continue. This system dominates efforts of about 10 seconds to 2 minutes. Lactate travels to the liver for gluconeogenesis (Cori cycle) or to heart and type I fibers for oxidation.
- Oxidative phosphorylation. Pyruvate, fatty acids (via beta oxidation) and amino acids feed acetyl CoA into the citric acid cycle; the electron transport chain yields about 30 to 32 ATP per glucose. It is slow to ramp up but has nearly unlimited capacity and dominates any effort longer than about 2 to 3 minutes. Fat dominates at low intensity; carbohydrate rises as intensity increases (the crossover concept).
After exercise, oxygen consumption stays elevated: excess post exercise oxygen consumption (once called oxygen debt) pays for resynthesis of creatine phosphate and ATP, reloading of myoglobin and hemoglobin, lactate clearance and the higher temperature and catecholamine levels. The lactate threshold (onset of blood lactate accumulation, often 50 to 60 percent of VO2max in untrained and 70 to 80 percent in trained people) marks the intensity above which glycolytic flux outpaces clearance.
Smooth muscle is regulated through calcium calmodulin and MLCK, balanced by MLCP, sensitized by Rho kinase, relaxed by cAMP and cGMP, and holds tone cheaply in the latch state. Cardiac muscle is striated but depends on trigger calcium for calcium induced calcium release, and its long refractory period prevents tetanus. ATP is buffered by creatine phosphate for seconds, produced by glycolysis for up to about two minutes and by oxidative metabolism thereafter, matched to type IIx, IIa and I fibers.
The chapter in one breath
- The Na+/K+ ATPase builds gradients; high resting K+ permeability sets the resting potential near E(K), and hyperkalemia depolarizes cells.
- The action potential is a fast rise in Na+ conductance, then inactivation plus delayed K+ conductance; inactivation explains the absolute refractory period.
- Conduction velocity rises with diameter and myelin; saltatory conduction jumps between nodes of Ranvier; A alpha fastest, C slowest.
- Calcium entry and SNARE proteins release transmitter in quanta; botulinum and tetanus toxins cleave SNAREs with opposite clinical pictures.
- Ionotropic receptors are fast channels; metabotropic receptors act through Gs, Gi and Gq; neurons integrate by temporal and spatial summation.
- Pain uses A delta and C fibers, is amplified by sensitization, and is reduced by gate control and descending opioid and serotonergic pathways.
- Spindles sense length (parallel, Ia, gamma control); Golgi tendon organs sense tension (series, Ib); the stretch reflex is the only monosynaptic reflex.
- UMN lesions give spasticity, hyperreflexia and Babinski; LMN lesions give flaccidity, atrophy, fasciculations and areflexia.
- Skeletal excitation contraction coupling: T tubule DHPR to RyR1 to calcium on troponin C; ATP detaches myosin and powers SERCA.
- Force depends on length tension, force velocity, and motor unit recruitment in size order plus rate coding.
- Smooth muscle uses calmodulin and MLCK and holds tone in the latch state; cardiac muscle uses calcium induced calcium release and cannot tetanize.
- ATP comes from creatine phosphate (seconds), glycolysis (to about 2 minutes) and oxidative phosphorylation (sustained work).
Words worth knowing
| Term | What it means |
|---|---|
| Equilibrium potential | The membrane voltage at which the electrical force on an ion exactly balances its concentration gradient, so there is no net movement. |
| Resting membrane potential | The steady voltage across an unstimulated cell membrane, about -70 mV in neurons, set mostly by potassium permeability. |
| Threshold | The membrane voltage at which inward sodium current overcomes outward current and an action potential becomes self sustaining. |
| Absolute refractory period | The interval during which no stimulus can fire another action potential, because sodium channels are inactivated. |
| Relative refractory period | The interval after the absolute period when a stronger than normal stimulus can fire the cell. |
| Saltatory conduction | Jumping of the action potential from node to node of Ranvier along a myelinated axon. |
| SNARE proteins | Synaptobrevin, syntaxin and SNAP 25, which zip vesicle and plasma membranes together for exocytosis. |
| Ionotropic receptor | A receptor that is itself an ion channel and opens when transmitter binds, giving a fast response. |
| Metabotropic receptor | A G protein coupled receptor that acts through second messengers, giving slower, longer lasting effects. |
| EPSP and IPSP | Graded postsynaptic depolarization (excitatory) or hyperpolarization or clamping (inhibitory) produced by transmitter. |
| Adaptation | Decline in a receptor's firing rate during a constant stimulus; fast in Pacinian corpuscles, slow in spindles and nociceptors. |
| Allodynia | Pain produced by a stimulus that normally does not hurt, such as light touch, a sign of central sensitization. |
| Gate control | The theory that large fiber input activates dorsal horn inhibitory interneurons that reduce nociceptive transmission. |
| Muscle spindle | An encapsulated stretch receptor in parallel with muscle fibers that signals length and rate of change through Ia and II afferents. |
| Golgi tendon organ | A tension receptor in series at the musculotendinous junction that signals through Ib afferents. |
| Alpha gamma coactivation | Simultaneous firing of alpha and gamma motor neurons that keeps the spindle taut during shortening. |
| Renshaw cell | A glycinergic spinal interneuron that receives motor neuron collaterals and feeds back to inhibit them. |
| Babinski sign | Extension of the great toe with fanning of the others on plantar stimulation, indicating an upper motor neuron lesion. |
| Dihydropyridine receptor | The L type calcium channel in T tubules; a voltage sensor in skeletal muscle and a calcium trigger channel in heart. |
| Ryanodine receptor | The SR calcium release channel; RyR1 in skeletal muscle, RyR2 in cardiac muscle. |
| Motor unit | One alpha motor neuron and all the muscle fibers it innervates. |
| Size principle | Recruitment of motor units in order of increasing motor neuron size, so slow small units fire first. |
| Tetanus (physiological) | Smooth sustained contraction produced by fused twitches at high stimulation frequency. |
| Latch state | Maintenance of smooth muscle force by slowly detaching dephosphorylated cross bridges, using little ATP. |
| Calcium induced calcium release | Release of SR calcium through RyR2 triggered by a small influx of extracellular calcium, as in heart muscle. |
| Creatine phosphate | A high energy phosphate store that regenerates ATP from ADP via creatine kinase during brief intense effort. |