Disorders of Peripheral Nerve, Neuromuscular Junction, and Muscle
Abridged from the Neurology Clerkship handout by Stephen E. Nadeau and Edward Valenstein
Neuropathy can be divided into five categories based upon clinical localization. (1) Mononeuropathies are usually traumatic or due to entrapments, such as the carpal tunnel syndrome. You should be familiar with median, ulnar, radial, peroneal and lateral femoral cutaneous nerve syndromes. Multiple mononeuropathy (mononeuritis multiplex) should first suggest systemic vasculitis, requiring urgent evaluation for diagnosis and treatment to avoid serious disability or death. (2) Polyneuropathy affects the longest nerves first, with symptoms therefore beginning in the feet. Signs are atrophy of intrinsic foot muscles, reduced or absent ankle jerk, and distal (Astocking@) sensory loss. Etiologies are usually metabolic or toxic. (3) Radiculopathy, with pain radiating from the neck or low back to one extremity, usually has subtle if any findings on neurological exam. Herniated disk, spondylosis and Herpes zoster are the common causes. (4) Polyradiculoneuropathies are usually bilateral, but differ from polyneuropathies in that symptoms and signs are as likely to be proximal as distal. The differential diagnosis includes Guillain-Barré syndrome when acute or subacute, and when chronic, CIDP (chronic inflammatory demyelinating polyradiculoneuropathy) and a variety of neuropathies associated with paraproteinemias. (5) Finally, plexopathies affect usually one limb, are painful, and are associated with considerable neurological deficit. Trauma, neoplasm, and radiation are in the differential diagnosis, but when pain and weakness occur subacutely (days to weeks) without trauma or tumor, the diagnosis is most commonly idiopathic when the brachial plexus is involved, and diabetic amyotrophy when the lumbosacral plexus is involved. Disorders of Neuromuscular Transmission: Myasthenia gravis, an autoimmune disorder with antibodies directed against the acetyl choline receptor, typically presents with ocular (ptosis, diplopia) and bulbar (dysarthria, dysphagia, neck weakness) symptoms and signs and proximal weakness, with preserved tendon reflexes and no sensory disturbances. The Tensilon test and antibodies to acetyl choline receptor are helpful diagnostically. Treatment with anticholinesterases, thymectomy, and immunosuppressants of various kinds is usually effective. The Lambert-Eaton myasthenic syndrome results from antibodies to calcium channels in the nerve endings, reducing the release of acetyl choline. Proximal weakness, autonomic disturbances, and decreased reflexes are common, and electrophysiological studies are often diagnostic. In many patients there is an associated neoplasm (most often small cell cancer of the lung). Disorders of Muscle usually present with symmetrical proximal weakness without sensory loss. Tendon reflexes may be normal or reduced. There are many inherited disorders of muscle that for the most part are the purview of specialists. You should be aware of the muscular dystrophies, particularly myotonic dystrophy, which is a multisystem disease that often presents with symptoms other than weakness. Acquired myopathies are often treatable. All patients should get thyroid functions studies. Cushing=s syndrome and other endocrinopathies should be considered. Inflammatory myopathies include two autoimmune disorders, polymyositis and dermatomyositis, that usually respond to appropriate treatment. Adults with dermatomyositis have a high incidence of cancer. Finally, medication-induced myopathy and myopathy associated with HIV infection should be considered.
You should be familiar with the principles that help to distinguish central nervous system (CNS) disorders from neurological disoders outside the CNS. Muscle atrophy, fasciculations, diminished tendon reflexes, and peripheral patterns of sensory loss suggest peripheral disorders, whereas little or no atrophy, increased tone, slowness of initiating movement, posturing, brisk reflexes, Babinski responses, and central patterns of sensory loss (hemisensory loss, or a level on the trunk) indicate CNS lesions.
Remember that CNS lesions in the brainstem and spinal cord can damage lower motor neurons, incoming sensory nerves or roots, and the reflex arc (segmental signs). Only associated long tract findings will distinguish these segmental signs of CNS lesions from lesions affecting the nerve roots.
in that proximal limb weakness and/or sensory loss can be present. (5) Polyradiculoneuropathy: deficits are widespread. In most cases. for example. or it may be narrowed by rheumatoid arthritis. the carpal tunnel may be small because of normal anatomic variation. Numbness is in the median distribution (see figure 1). plexus and peripheral nerves. and will therefore allow the compression to progress to damage first myelin. Tinel=s sign. (4) Plexus: localization is to the brachial or lumbosacral plexus on one or both sides. neoplasm. when median sensory loss. a C6 radiculopathy. herpes zoster Guillain-Barré syndrome. but often patients report that the entire hand is numb. At first symptoms abate with a change in wrist position. multifocal neuropathy) Polyneuropathy Radiculopathy Polyradiculoneuropathy Plexopathy Pattern Single named nerve
affected first. and then axons. paresthesias in the hand with tapping over the median nerve at the wrist. idiopathic. acromegaly. radiation Diabetes. your clinical examination will enable localization to one of five broad categories: (1) Mononeuropathy or multiple mononeuropathy: the deficits are in the distribution of one or more individual peripheral nerves. either intoxicated. (2) Occupational: recurrent wrist movements or maintenance of wrist flexion will predispose to carpal tunnel entrapment.NEUROPATHY
Here we include disorders of the roots. multiple entrapments
Several named nerves
Longest nerves first (distal. (2) Polyneuropathy: the deficits affect nerves in proportion to their length.
. wrist. and sometimes even the arm or shoulder. hereditary Herniated disc. paraproteinemias Trauma. patients with early carpal tunnel entrapment are advised to avoid wrist flexion. The neurological examination is normal until late. Splints are useful. The carpal tunnel may be small congenitally. Pain can involve the palm. (3) Other conditions affecting nerves: sick nerves will be more easily damaged at sites of entrapment. or under anesthesia. spondylosis. CIDP. forearm. but do not conform to the distribution of a polyneuropathy. is of little help since it can be present in normals. radiation
Mononeuropathy most commonly results from entrapment of nerves at specific sites. using sleeping pills. for example. trauma Vasculitis. Surgical decompression is usually successful in patients who do not respond to splinting. and during pregnancy (from fluid accumulation). stocking-glove pattern) One or more nerve roots Proximal and distal weakness. (4) Sedation: a sedated person. neoplasm. that localization of the lesion(s) precedes consideration of a differential diagnosis. or it may be compromised by arthritis or the accumulation of fluid. weakness of thumb opposition. the right median nerve. Therefore. will not be aroused by the tingling discomfort that signals nerve ischemia from compression. and are in a stocking and (then) glove distribution. and thenar atrophy can be present. most often during sleep or while driving a car.
Most likely diagnoses Entrapment. but with increasing nerve damage they become constant. Prolonged wrist flexion may reproduce symptoms (Phalen=s sign). namely. leaning on the elbows or maximum flexion of the elbows to ulnar palsy. sometimes asymmetrical Brachial Lumbosacral
Metabolic/toxic. entrapment neuropathies are more common among patients with diabetic polyneuropathy. myxedema. symptoms and signs appear first in the feet. for example.
Carpal tunnel entrapment Typically symptoms are brought on by prolonged wrist flexion or extension. (3) Nerve root: the deficits localize to one or more nerve roots. with the longest nerves Table I Localization Mononeuropathy Multiple mononeuropathy (mononeuritis multiplex. The same principles of diagnosis apply as in disorders of the central nervous system. Susceptibility to entrapment depends upon several factors: (1) Anatomical: for example. idiopathic. If there is no underlying cause to be treated. Each localization has a distinct differential diagnosis (Table I).
when present. in which case the nerve can be inadvertently compressed against the rail of the operating table. so-called Saturday-night palsy. and the prognosis is good. the brachioradialis is weak.Figure 1: Median sensory distribution
Ulnar neuropathy: cubital tunnel syndrome and tardy ulnar palsy Ulnar neuropathy is commonly caused either by compression of the nerve just distal to the elbow as it passes throught the cubital tunnel (the Acubital tunnel syndrome@). Treatment consists of avoiding or eliminating recurrent compression. Often the patient is inebriated. but the triceps is usually strong. Sensory loss is often absent. Reflexes are normal. at times during a period of unaccustomed and enforced immobility because of other illness. Clinical manifestations including wasting and weakness of ulnar-innervated intrinsic hand musculature. and sensory loss in the lateral aspect of the leg and the dorsum of the foot (see figure 3). The prognosis for eventual recovery of function is good. Radial neuropathy Radial neuropathy. and the medial aspect of the fourth finger (figure 2 Peroneal neuropathy
compression of the nerve at the point where it passes in a relatively superficial location immediately behind the head of the fibula. it affects the lateral aspect of the dorsum of the hand (Figure 4). is caused by prolonged compression of the radial nerve in the spiral groove of the humerus as the arm hangs over the back of a chair or beneath someone's head. The ulnar nerve is particularly vulnerable to compression during anesthesia. and the sensory distribution ankle jerk by the posterior tibial nerve. the fifth finger. There is wrist drop and weakness in finger extensors. since the knee jerk is mediated by the Figure 3: Peroneal femoral nerve. and numbness and paresthesias confined to the ulnar (medial) aspect of the hand. This may occur with repeated or prolonged leg crossing.
Figure 4: Radial sensory distribution Figure 2: Ulnar sensory distribution
Peroneal neuropathy typically develops with repeated
. Examination demonstrates weakness of dorsiflexion and eversion. or by repeated compression or stretching of the nerve as it passes across the elbow in the ulnar groove (Atardy ulnar palsy@).
however.Meralgia paresthetica Numbness and/or burning paresthesias of the anterolateral aspect of the thigh often raises concern about disease affecting the lumbar roots. and is easily differentiated from more serious causes of thigh numbness by the absence of associated weakness or reflex change. We will merely list a number of important causes of polyneuropathy. They affect the longest neurons first. Multiple mononeuropathy (mononeuritis multiplex) The development of sequential multiple mononeuropathies should always suggest a systemic necrotizing vasculitis. AZT. such as polyarteritis nodosa. you will learn more about individual disorders next year. These disorders may
Figure 6: Mild polyneuropathy
Figure 7: Moderate Polyneuropathy
Figure 8: Severe polyneuropathy
. The earliest physical findings are loss of vibratory sensation in the toes. The involvement of each nerve. and then affect the hands. since long neurons have greater metabolic demands than short ones. plexus. The acute onset and the involvement of nerves at sites where entrapment or compression are unusual distinguishes vasculitic multiple mononeuropathies from multiple entrapment or compressive neuropathies. or femoral nerve. is Figure 5: Lateral typically marked by severe femoral cutaneous sharp pain and the nerve distribution development of focal numbness and weakness. particularly corticosteroids and cyclophosphamide. It is fundamentally benign. the commonest cause of such sensory changes is lateral femoral cutaneous nerve entrapment. progress up the legs. atrophy of intrinsic foot muscles. etc. DDI. Polyarteritis nodosa and Wegener's granulomatosis are malignant systemic diseases with high case fatality: early recognition and vigorous treatment with immunosuppresive drugs.)
Many metabolic and toxic disorders result in polyneuropathy. AStocking@ and Aglove@ sensory loss may be demonstrable with touch or pin: the deficits taper off proximally without any sharp demarcation. This is called meralgia paresthetica. in effect neural infarction. Symptoms therefore begin in the feet. may prevent serious complications or death. and others) $ Nutritional neuropathies -thiamine -B12 -pyridoxine toxicity $ Autoimmune. inflammatory and paraneoplastic neuropathies: -collagen vascular diseases -paraproteinemias $ Inherited (Charcot-Marie-Tooth. but tends to be very persistent and may be very uncomfortable. phenytoin. Polyneuropathy
interfere with nerve metabolism. The typical distribution of sensory loss is indicated in figure 5. and the sensory loss does not conform to the distribution of any one peripheral nerve or root (Figures 6-8). colchicine. and reduced or absent ankle jerks. and in particular by an intact knee jerk. $ Endocrine & Metabolic disorders -Diabetic polyneuropathy -Uremic polyneuropathy $ Toxic and drug-related neuropathies -Alcohol -Heavy metals -organophosphates -nitrous oxide -Drug-induced polyneuropathies (cancer therapies. Tingling or burning are common complaints.
In most cases it is readily recognized on the basis of burning pain and hyperpathia in conjunction with the characteristic vescicular rash occurring in the distribution of one or more nerve roots. Brachial plexus: The common causes are: $ trauma $ neoplasm (metastatic. Unfortunately. in which weakness and sensory loss are predominately distal. less often in the face (usually in the V1 distribution) or the extremities. It is therefore important to test patients with chronic polyradiculoneuropathy for evidence of a paraproteinemia. distinguishing it from polyneuropathy.
. It may also be affected by metastatic neoplasm in the retroperitoneal space and by radiation. a preceding infection may be identified. Lumbosacral plexus: The lumbosacral plexus is less susceptible to trauma than the brachial plexus. However. However. The neuropathy may antedate the diagnosis of the underlying paraproteinemia by months or even years. in association with loss of deep tendon reflexes and modest sensory symptoms. meningiomas. resulting in an area of burning dysesthesia. but recovery takes many months.Radiculopathy Radiculopathy is suggested by pain that radiates from the neck to the arm. Often pain is precipitated by movement of the spine. it is presumed to be autoimmune. Polyradiculoneuropathy Weakness in polyradiculoneuropathy is just as likely to be proximal as distal. The disease is self-limited. and sometimes by maneuvers that affect intraspinal pressure. breast) $ radiation $ idiopathic Idiopathic brachial plexus neuropathy begins with pain in the neck and shoulder. unspecified viral infections. sensory loss is usually confined to a small portion of the sensory dermatome. early neurological consultation is prudent. and in AIDS patients with GBS.” most cases of lumbosacral plexopathy are related to diabetes. At some point in the course. Polyradiculoneuropathy may also be associated with multiple myeloma and Waldenstrom=s macroglobulinemia. usually in the distal extremities. or metastatic tumors can also present with radicular pain. with serum antibodies to
nerve components being demonstrable in some cases.and bradyarrhythmias. there is commonly a CSF pleocytosis. followed usually within days by weakness that can be very focal or can involve most of the arm. In over half of cases. It is classically characterized by the rapid development of generalized weakness. Although polyradiculoneuropathy may appear multifocal at onset. Neoplasms such as schwannomas. whereas brahcial plexus neuropathy is “idiopathic. The pathogenesis is unknown. including facial diplegia and autonomic instability (labile hypertension. thus helping to distinguish it from mononeuritis multiplex (see above). minimally symptomatic phases of the disease). sometimes with numbness. and respiratory insufficiency may develop unexpectedly. or from the low back to the leg. over the chest or abdomen on one side. Spontaneous lumbosacral plexopathy resembles idiopathic brachial plexus neuropathy. but Ebstein Barr virus. Campylobacter and cytomegalovirus have been most commonly implicated. The so-called Miller-Fisher variant is characterized by disproportionate involvement of cranial nerves and the presence of cerebellar signs. The Guillain-Barré syndrome (GBS) is the most common example of a polyradiculoneuropathy. there exists a chronic form of this disease. when present. often sufficiently severe to compromise respiration. because there is some overlap from adjacent dermatomes. Although pain is often widespread in the back and limb. most commonly in the thorax. Painful radiculopathy or polyradiculopathy is the most common neurological manifestation of Lyme disease. In general. urinary retention). such as coughing or straining. a rise of CSF protein without a CSF pleocytosis is characteristic. The Guillain-Barré syndrome is autoimmune. and other stressors such as trauma or surgery have the potential for precipitating the disorder. usually lung. Therefore. Diabetics can have radiculopathy affecting several adjacent thoracic dermatomes. that may run a progressive or relapsing course over months or years. The most common etiology is probably root compression from herniated disc or spondylosis. are in a radicular distribution. weakness is usually more profound and widespread in plexopathy. Herpes zoster (shingles) is a common cause of radiculopathy in elderly or immunosuppressed patients. Patients with classical GBS reach their nadir in one to four weeks. Focal neurological deficits. it is unusual for the focal deficits to conform to single nerves. Many patients with GBS have other prominent clinical features. Some patients have prominent sensory loss. known as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). since both usually present with pain and weakness confined to one limb. with unilateral pain and weakness evolving over days to weeks. GBS today represents one of the more common neuropathies affecting patients with AIDS (usually in early. The presentation of GBS may be extremely protean. Plexopathy Differentiating plexopathy from radiculopathy can be difficult. tach. Nerve conduction studies may be very helpful in making the diagnosis during early stages of the disease.
two-hour post-prandial glucose. in the absence of sensory symptoms. Although life could be preserved with artificial respiration. collagen vascular disease. lower motor neuron or both. You should also be sure the patient is not taking a potentially neurotoxic medication. and with thymoma. diplopia. The most frequent presenting symptoms are ptosis. Because of the dire prognosis. The most common motor neuron disorder is amyotrophic lateral sclerosis (ALS) which affects both upper and lower motor neuron. or B12 deficiency. the Lambert Eaton myasthenic syndrome. levator palpebrae. 10-15% have antibodies that are not detected by the currently available laboratory assay. one attempts to reduce the differential diagnosis by defining the characteristics of the neuropathy in the individual case. and should include a CBC. edrophonium (TensilonJ). sedimentation rate. Important considerations include localization (as discussed above). These antibodies block or degrade the receptor. and proximal limb muscles. an underlying malignancy. disorders caused by several drugs. Myasthenia gravis This is an autoimmune disease in which antibodies are directed against the acetylcholine receptor on the muscle end-plate of the neuromuscular junction. and botulism. which is occasionally malignant.TABLE II Some demyelinating neuropathies Guillain-Barré syndrome (some forms) CIDP Multifocal motor neuropathy Neuropathy associated with paraproteinemias (some) Diabetic polyneuropathy (in part demyelinating) Some inherited neuropathies (Charcot-Marie-Tooth type I. which decreases the rate at which acetyl choline is degraded at the neuromuscular junction. and present with weakness unassociated with sensory loss or autonomic dysfunction. Myasthenia is highly associated with other autoimmune disorders. bulbar and respiratory muscles. such as diabetes mellitus. Severe neuropathy By severe. longer acting anticholinesterase medications. reaching above the head). azathioprine (ImuranJ) and sometimes cyclosporine A. myasthenics generally experience greater fluctuations in strength than other patients with weakness. atrophy and fasciculations) with upper motor neuron findings (weakness. the diagnosis can be made by injecting intravenously the short acting anticholinesterase drug. The characteristic clinical appearance of ALS is the
. Patients present with weakness that progresses inexorably over 1 to 5 years. brisk reflexes. and are discovered incidentally on examination. particularly of the thyroid. The major concern in the diagnostic evaluation of mild polyneuropathy is the identification of an underlying disease that may warrant treatment. Treatment entails thymectomy (except in elderly myasthenics). so long as they don=t cause pain. and will not be considered here. dyspnea and symptoms of proximal weakness (difficuty climbing stairs. dysarthria. They are classified according to whether they affect the upper motor neuron. Bladder function and extraocular movements are invariably preserved. however. resulting in failure of neuromuscular transmission and weakness. so it is not a distinguishing feature of myasthenia. a neurological consultation is warranted. For reasons not known. The diagnostic evaluation can be confined to blood studies. we mean a neuropathy that threatens disability from weakness. Disorders confined to upper or lower motor neuron are rare and difficult to diagnose. and because in many instances effective therapy is available. sensory loss or autonomic dysfunction. Myasthenic patients can demonstrate dramatic improvement in strength lasting a minute or two. rising from a chair.
MOTOR NEURON DISORDERS
There are a group of disorders that quite selectively affect motor neurons. the muscles most often involved are the extraocular muscles. and a serum protein electrophoresis.
DISORDERS OF THE NEUROMUSCULAR JUNCTION
Diagnostic approach. and whether or not it is inherited. are often asymptomatic. B12 and folate levels. as defined by clinical and especially electrophysiologic criteria. Mild polyneuropathy Mild polyneuropathies. including glucocorticosteroids. dysphagia. most patients are rendered so helpless by weakness that they prefer not to have their lives prolonged. When weakness is present. such as pyridostigmine (MestinonJ). however. diagnosis must be confirmed by a physician with experience in this area. In general. and immunosuppressant medication. The diagnosis should be confirmed by electrodiagnostic testing and a serum assay for acetylcholine receptor antibody. whether or not the neuropathy is predominately demyelinating (see Table II). Disorders of neuromuscular transmission include myasthenia gravis. thyroid function studies. Déjerine-Sottas)
combination of lower motor neuron signs (weakness. Although they are uncommon disorders. Fatigue is common in any disorder causing weakness. There is no effective treatment. and Babinski responses). The latter test may be the only means of documenting the illness in patients whose symptoms suggest myasthenia but who are not weak on presentation. Plasmapheresis or intravenous immunoglobulin treatment can provide temporary relief lasting up to several weeks or months. they are important because they can be lifethreatening. Death occurs from respiratory weakness. Because the causes of neuropathy are myriad.
or it may accompany one of the collagen vascular diseases. iatrogenic (drug-induced) myopathies. Inherited diseases of muscle Inherited disorders of muscle include the muscular dystrophies. procainamide. The muscular dystrophies are a group of disparate inherited myopathies that until recently were linked only by similarities in pathology. high serum CK levels. so that they can initiate appropriate diagnostic procedures and direct the patient to the appropriate specialist for treatment. You should think of three categories: inflammatory myopathies. When it appears in adults. Many of these disorders manifest themselves in childhood or young adult life. patients with HIV may develop several kinds of myopathy. Duchenne=s muscular dystrophy is inherited as an X-linked recessive disorder. and the periodic paralyses. The disease is more common in childhood. the mitochondrial myopathies. a high serum CK. Myotonic muscular dystrophy is a dominantly inherited trinucleotide repeat disorder. cardiac arrhythmias. temporalis and sternocleidomastoid weakness and atrophy. Inflammatory myopathies Two autoimmune disorders affect muscle. Intramuscular injections relieve hemifacial spasm. Most are not treatable. impairing release of acetylcholine.
to muscle membrane. testicular atrophy. although more often than not the muscle involvement is clinically silent. Recently. Injections into the lower esophageal sphincter provide relief from achalasia. most often a small cell carcinoma of the lung. and endocrine myopathies. Botulinum toxin is a potent neuromuscular blocking agent that binds irreversibly and causes weakness lasting months. Although such treatment is far from ideal. as in polymyositis. Treatment is entirely symptomatic. there is a characteristic rash. quinidine. glucose intolerance. Although the muscle biopsy findings in dermatomyositis are diagnostic. Ptosis. Symmetrical proximal weakness. Myotonia. weakness and EMG findings. Natural exposure stems from eating food contaminated with the toxin. or other immunomodulatory therapies. and very high serum CK levels. and by failure to relax after a forceful grip. Finally. Patients may present with cardiac or central nervous system manifestations. with resulting ischemic atrophy of muscle fibers. it has been discovered that molecules that link the contractile apparatus to the muscle membrane are altered in several of the muscular dystrophies. Dermatomyositis results from an immune-mediated attack on muscle microvasculature. blepharospasm. but in this disorder the antibodies block calcium channels on motor nerve terminals. the biopsy demonstrates inclusion bodies and amyloid deposits. and an abnormal EMG are seen. the congenital myopathies. The inherited disorders are legion. Inclusion body myositis has only recently been distinguished from polymyositis: weakness is often distal as well as proximal. Subcutaneous calcification is usually a late complication. an abnormal EMG and a muscle biopsy that demonstrates intrafascicular inflammation associated with necrosis of muscle fibers. Other manifestations include cataracts. including an inflammatory myopathy
DISORDERS OF MUSCLE
Disorders of muscle can be divided into inherited and acquired. the glycogen storage diseases and certain other inborn errors of metabolism. however. and bacterial infection of muscle occur. and most are treatable. and are treatable with steroids. an undiagnosed malignancy should be sought. many are rare. Botulinum toxin is now used therapeutically to treat disorders in which muscle contraction at a specific site is causing the patient=s problem. and manifests in early childhood with calf hypertrophy. and a few other drugs have neuromuscular blocking effects that cause weakness when administered to a patient with myasthenia or when combined with some anesthetic agents. and trichinosis is an important parasitic disease of muscle. and distal upper extremity weakness are characteristic. it is currently the most effective therapy for these disorders.Other disorders of the neuromuscular junction The Lambert-Eaton myasthenic syndrome (LEMS) is another autoimmune disease. the course is chronic. and students need only be aware that they exist. form the basis of the diagnosis. The student should know when to suspect such illness. and dementia. and certain other focal dystonias. torticollis. a biopsy is not necessary in the patient with the characteristic rash. a malignant neoplasm is found. a waddling gait because of proximal weakness. It results from absence of a protein called dystrophin. frontal baldness. In more than half the cases. Symmetrical proximal weakness. Polymyositis may be the sole disease. excessive sleeping. acquired disorders of muscle are relatively few. spasmodic dysphonia. Sarcoidosis should be mentioned as a treatable cause of inflammatory myopathy. central hypoventilation. Polymyositis results from a Tcell mediated attack on muscle fibers. You should be aware of the two commonest kinds of muscular dystrophy. In addition. is manifested by prolonged muscle twitch to percussion. Acquired disorders of muscle These present with symmetrical proximal weakness. and the disease usually does not respond to immunomodulatory treatment. and are of interest to pediatricians. a failure of relaxation of muscle due to continued discharge of muscle membrane after the initial muscle twitch. or harboring the organism in a wound or in the GI tract (the source of neonatal botulism). so it is important that nonneurologists recognize the disorder. part of the molecular apparatus mentioned above that links the contractile apparatus
. Viral myositis. In contrast. involving the skin around the eyes (Aheliotrope@ rash) and on the dorsal surface of the digits. that can manifest in many systems. Aminoglycoside antibiotics. IVIG.
CBC. Minimally weak muscles may not have diagnostic pathology. critical illness neuropathy (abnormal nerve conductions without demyelination). Thyroid hormone affects the metabolism of serum CK: it is decreased (leading to elevation of CK) in hypothyroidism and increased (leading to low CK values) in hyperthyroidism irrespective of the presence of myopathy. and possibly in parathyroid disorders. studies of neuromuscular transmission. may suggest this type of disorder. Endocrine myopathies Steroid myopathy can be seen in association with Cushing=s disease or with exogenous corticosteroid administration. Rarely. Serum cortisol levels should be obtained if other studies have failed to suggest a diagnosis in a patient with proximal muscle weakness. between nerve entrapment and nerve root disorders). Offending agents include corticosteroids (see below). however. and certain other entrapment neuropathies. $ Is there nerve entrapment? Nerve conduction studies are a useful adjunct in the diagnosis of carpal tunnel entrapment. or myopathy (abnormal EMG). a muscle biopsy should be obtained. Guillain-Barré (denervation with nerve conduction slowing). and electromyography (EMG) are very important adjuncts for the diagnosis of neuromuscular problems. A myopathy may also underlie in part the profound wasting syndrome seen in these patients. Nerve conduction studies also help assess the severity of nerve damage. Muscle weakness is detectable in many hyperthyroid patients. Some questions that these studies can help answer include: $ Is there peripheral nerve involvement? If the clinical evaluation has already answered this question. A careful history of prior athletic or other physical abilities and the ability to examine first degree relatives can sometimes distinguish a chronic familial muscular disorder from a potentially treatable acquired myopathy. and thyroid function studies should be obtained in every case. $ Is weakness due to a disorder of nerve. neuromuscular junction. so this information is diagnostically (and therapeutically) important. AZT.g. weakness in a patient with thyroid disorder will represent associated myasthenia gravis and not myopathy. and very weak muscles may yield insufficient muscle tissue for diagnosis. Finally.
. but can also be seen with neurogenic atrophy. This should be obtained from a muscle that is moderately weak. areflexia.
Clinical electrophysiology. For example. When endocrine studies are negative and a diagnosis is still in doubt. Finally. Myopathy can also been seen in acromegaly. patients with dermatomyositis should undergo a thorough evaluation for an occult malignancy. Treatment of the thyroid disorder will not affect the course of myasthenia.. Their value depends upon the questions asked. Drug-induced (iatrogenic) myopathies These are uncommon but should be recognized because withdrawal of the drug is usually curative. lovostatin (Mevacor) and colchicine (which produces a neuropathy as well). Confirmation
with EMG and serum CK is usually helpful. the differential diagnosis includes amyotrophic lateral sclerosis (denervation without nerve conduction slowing). there is no need to perform electrophysiologic studies. and may be the most prominent clinical feature. Nerve conduction studies can identify some patients with primary demyelinating neuropathies. EMG in inflammatory myopathies is usually abnormal. and urinary incontinence could have a disorder of the spinal cord (transverse myelopathy. including nerve conduction studies. Studies are helpful when the history and physical are not diagnostic. $ Is a neuropathy demyelinating? The differential diagnosis of demyelinating neuropathy is much smaller than neuropathy in general. CK elevations to more than 10 times the upper limits of normal are indicative of myopathy. prolonged treatment with AZT is associated with a mitochondrial myopathy. For example. The EMG may be Amyopathic@ or normal. Thyroid function studies should be obtained in every patient with proximal weakness. Normal CK levels do not exclude myopathy. Treatment of the endocrine disorder usually results in improvement in strength. or muscle? Repetitive stimulation studies and EMG can often help in this determination. and several alternatives exist (e. ESR. in an ICU patient who cannot be weaned off the respirator. The patient=s medications should be examined for drugs that may cause myopathy. better known as the Guillain-Barré syndrome). compressive myelopathy) with areflexia from spinal shock or acute inflammatory demyelinating polyradiculoneuropathy (AIDP. patients are usually cushingoid. Diagnostic evaluation Progressive proximal weakness in a patient with normal sensation and normal or reduced reflexes should suggest myopathy. but abnormal in the Guillain-Barré syndrome. Myopathy is not a feature of diabetes. Both hypothyroidism and hyperthyroidism are associated with myopathy manifested by symmetric proximal weakness. and the knowledge and skill of the person performing the test. studies may help if symptoms and signs are minimal or ambiguous. Nerve conduction studies are normal in myelopathy. or as a normal variant.similar to polymyositis. a patient presenting with rapidly progressive quadriparesis. Proximal weakness with a typical rash is sufficient to diagnose dermatomyositis. or before surgical correction. EMG studies may be helpful in distinguishing neurogenic causes of proximal weakness. neuromuscular blockade from drugs or myasthenia (abnormal repetitive stimulation). but muscle biopsy is not necessary. In either case. and while not absolutely characteristic. Lesser degrees of elevation may indicate myopathy. such as spinal muscular atrophy.
EMG: A needle is inserted in the muscle. Motor nerve conduction studies: The nerve is stimulated with surface electrodes at 2 or more sites.
. Neuromuscular junction testing: The set-up is the same as motor nerve conductions. Incremental responses (increase in amplitude over many responses) is seen in Lambert-Eaton and botulism. The time from stimulation to response (latency) is determined. Decremental responses (loss of amplitude over the first 5 stimuli) at 3Hz stimulation is seen in myasthenia. but the stimulus is repeated at different rates.It is not necessary for non-specialists to understand much about electrophysiologic testing. or vice versa. Conduction velocity is calculated by dividing the difference between two latencies obtained by stimulation at two sites along the nerve by the distance between these two sites of stimulation. but a little background my be helpful. The pattern of response helps distinguish denervation from other causes of muscle dysfunction. and a response for each stimulation is recorded by surface electrodes over a muscle. Sensory nerve conduction studies: The skin is stimulated and a response recorded from surface electrodes placed over the nerve.