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Clinical manifestations and diagnosis of inclusion body myositis

Clinical manifestations and diagnosis of inclusion body myositis
Literature review current through: Jan 2024.
This topic last updated: May 12, 2023.

INTRODUCTION — Sporadic inclusion body myositis (IBM) is classified, along with polymyositis, dermatomyositis, the antisynthetase syndrome, and necrotizing autoimmune myopathy, as one of the idiopathic inflammatory myopathies. However, despite some similarities, the clinicopathologic manifestations of IBM are clearly distinct from the other myositis subtypes (table 1). (See "Clinical manifestations of dermatomyositis and polymyositis in adults".)

The clinical manifestations and diagnosis of IBM will be reviewed here. The treatment and prognosis are discussed separately. (See "Management of inclusion body myositis".)

PATHOGENESIS — Sporadic inclusion body myositis (IBM) is a progressive muscle degenerative disease of unclear etiology [1,2]. The intense infiltration of T cells and genome-wide association studies showing linkage to the human leukocyte antigen (HLA) locus suggest that autoimmunity is a likely trigger of disease, whereas the pathological characteristics of ubiquitinated protein inclusions, onset after 45 years of age, and refractoriness to immunosuppressive therapy suggests similarities to neurodegenerative diseases [3-5].

EPIDEMIOLOGY — Inclusion body myositis (IBM) is a rare sporadic disorder with a prevalence that is estimated at 15 to 70 cases per million adults [6-9]. However, in one study of adults older than 50 years, the estimate of prevalence was as high as 180 per million adults [9,10]. Due to the high incidence of weakness complaints in older adults and the insidious onset of weakness in IBM, this disease is frequently misdiagnosed; thus, a high index of suspicion is warranted in order to make the diagnosis [8]. Indeed, it is the most common acquired idiopathic inflammatory myopathy in individuals over the age of 50 [8].

In contrast to other myositis subtypes that preferentially affect women, IBM affects men more often than women [11]. The mean age at onset of symptoms is approximately 60 years, with a range from the fourth to the ninth decade.

CLINICAL MANIFESTATIONS

Symptoms and signs — Patients with inclusion body myositis (IBM) present with the insidious onset of weakness. The average duration of symptoms before diagnosis is about five years [8,12]. The most common initial presentation is slowly progressive proximal leg weakness, with difficulty getting up out of a chair or frequent falls. In our experience, it is not unusual for patients to initially assume their symptom are secondary to aging. In some patients, the initial complaint may be weakness of grip strength, such as difficulty opening jars. Rarely, patients may present with isolated dysphagia [12].

The characteristic physical exam finding is weakness of the distal finger flexor muscles in approximately 95 percent of patients [13,14], often accompanied by "scooping" or scalloping of the medial forearm flexor compartment (picture 1). Though often difficult to detect on physical examination early in the course of disease, weakness and atrophy of quadriceps (knee extensor) muscles are eventually present for the majority of patients.

The following features can be seen:

Compared with patients with polymyositis and dermatomyositis, patients with IBM are more likely to have asymmetric and distal muscle involvement and a more slowly progressive course.

Both proximal leg and distal arm muscle groups are usually involved. Involvement of the hip flexors, quadriceps, tibialis anterior with weakness of the ankle dorsiflexors, and forearm flexors with grip weakness are characteristic of IBM [13-15]. Facial muscles (especially muscles controlling eye closure) may be involved, but the oculomotor muscles are spared.

Myalgias may accompany the weakness but are usually mild [16].

Muscle atrophy progresses in parallel with the duration and severity of weakness and is greater than would be expected for the same degree of weakness in polymyositis. Deep tendon reflexes also decrease in parallel with the decline in strength.

Dysphagia due to involvement of the cricopharyngeal muscle occurs in approximately half of patients. It may rarely be the presenting complaint, in some cases preceding the onset of extremity weakness by up to seven years [12,17-19].

Laboratory abnormalities — Muscle enzymes are typically mildly elevated early in the disease but may normalize with disease progression. Creatine kinase (CK) levels are usually less than 10 times normal [20]. An elevation of CK greater than 15 times the upper limit of normal suggests an alternative diagnosis, although rare patients with IBM may present with markedly elevated CK levels. Glucocorticoids may dramatically reduce serum CK levels in IBM, and a normalization of serum CK in the absence of an improvement of weakness is common in IBM. Measures of the acute phase response, such as the erythrocyte sedimentation rate (ESR) or the C-reactive protein (CRP), are usually normal. Myositis-specific autoantibodies are typically absent in patients with IBM; however, cytoplasmic 5'-nucleotidase 1A (cN1A) autoantibodies may help distinguish IBM from polymyositis. (See "Diagnosis and differential diagnosis of dermatomyositis and polymyositis in adults", section on 'Laboratory testing and imaging'.)

DIAGNOSIS — The diagnosis of sporadic inclusion body myositis (IBM) generally depends upon the presence of characteristic clinical and laboratory findings which include slowly progressive muscle weakness, with early involvement of the quadriceps muscles and wrist/finger flexors, and elevated muscle enzymes. While a muscle biopsy should be performed in most patients with suspected IBM, histopathologic confirmation is not always possible, and the diagnosis may still be made based on characteristic clinical findings.

The diagnosis of IBM should be considered in patients over the age of 40 who present with progressive muscle weakness, even in the absence of an elevated serum creatine kinase (CK). If patients have proximal leg weakness and distal arm and/or leg weakness on exam, referral to a neurologist and muscle biopsy should be performed at a center with the ability to appropriately process and interpret the biopsy.

Diagnostic criteria, which have been developed for use in research, have sometimes been used to aid in making the diagnosis but have limitations when used for this purpose (table 2). (See 'Proposed diagnostic criteria' below.)

Our approach to the diagnosis of IBM is presented below. A more general approach to the evaluation of a patient with muscle weakness is discussed separately. (See "Approach to the patient with muscle weakness".)

History — The medical history serves to identify clinical manifestations of IBM as well as identify other possible causes of muscle weakness.

We perform a thorough history with particular attention to the following symptoms:

Insidious onset of falls due to weakness of knee extensors and/or foot drop, typically in the absence of sensory complaints

Difficulty standing from the floor or a low chair

Loss of dexterity of hands or grip strength due to finger flexor weakness

Dysphagia

We also ask about exposure to a variety of prescription and illicit drugs that may cause myopathy, myositis, neuropathy, or other disorders that cause muscle weakness. Among the drug exposures that should be specifically sought are antimalarial drugs (eg, chloroquine, hydroxychloroquine), colchicine, glucocorticoids, cholesterol-lowering drugs (eg, HMG-CoA reductase inhibitors [statins]), alcohol, and cocaine. (See "Drug-induced myopathies".)

Symptoms of associated conditions should be reviewed given that as many as 15 percent of IBM patients have underlying autoimmune disorders such as systemic lupus erythematosus (SLE), Sjögren's disease, systemic sclerosis (scleroderma), Hashimoto thyroiditis, variable immunoglobulin deficiency, sarcoidosis, and idiopathic thrombocytopenia purpura [21,22]. However, unlike other inflammatory myopathies such as polymyositis or dermatomyositis, IBM is not associated with myocarditis, interstitial lung disease, or an increased risk of malignancy.

A careful family history should be taken, as some hereditary myopathies such as Limb-Girdle Muscular Dystrophy and hereditary IBM may have proximal and distal weakness as well as rimmed vacuoles and/or inflammation on muscle biopsy and may be misdiagnosed as IBM. (See "Limb-girdle muscular dystrophy".)

Physical examination — The physical examination helps to determine the distribution of muscle weakness and atrophy. Findings of quadriceps (ie, knee extensor) and forearm flexor (ie, wrist and finger flexor) muscle weakness and wasting are clinical hallmarks of IBM [23]. Many patients also have significant hip flexion weakness and are typically unable to stand from a chair without pushing off with their arms. With severe quadriceps weakness, patients may walk with the leg hyperextended (genu recurvatum). To detect subtle weakness of distal finger flexion (typically the earliest exam finding), the clinician should isolate and specifically examine flexion at the distal interphalangeal (DIP) joint. Other muscles that are commonly affected are orbicularis oculi (leading to weakness with eye closure), triceps (weakness with arm extension), and tibialis anterior (leading to foot drop) [24].

While many patients with IBM present with symmetric and proximal muscle weakness suggestive of polymyositis, the finding of more distal, asymmetric involvement with finger and wrist flexor weakness greater than deltoid weakness and knee extensor weakness greater than hip flexor weakness would be more typical of IBM.

Laboratory testing — There is no definitive diagnostic laboratory test for IBM. Mild to moderate elevations of plasma muscle enzyme levels (serum CK less than 10-fold higher than normal) are common with IBM, while levels greater than 15-fold often suggest other causes.

The purpose of laboratory testing is primarily to exclude an alternative diagnosis that could lead to weakness and to look for associated conditions. Laboratory tests that are performed in the evaluation of patients with muscle weakness include serum electrolytes, calcium, magnesium, phosphate, creatine kinase, aldolase, lactate dehydrogenase, serum aminotransferases, and thyroid-stimulating hormone. An elevated alkaline phosphatase level should prompt evaluation for Paget disease, which can be seen in hereditary IBM. (See "Clinical manifestations and diagnosis of Paget disease of bone".)

Testing for autoantibodies directed against cytoplasmic 5'-nucleotidase 1A (cN1A) may be helpful for distinguishing IBM from other forms of myositis [25,26]. A study evaluated the diagnostic performance of immunoglobulin M (IgM), IgA, and IgG anti-cN1A serum antibodies detected by enzyme-linked immunosorbent assay (ELISA) in 205 patients with muscle disease, 50 of whom had IBM [27]. A combination assay of all three autoantibody levels resulted in a sensitivity and specificity of 76 and 91 percent, respectively. However, anti-cN1A antibodies are also detected in about 20 percent of patients with SLE and Sjögren's disease in the absence of muscle disease [28,29]. Laboratory testing is commercially available [30], and we recommend testing in diagnostically challenging cases.

There is an association of IBM with some autoimmune diseases, such as Sjögren's disease and sarcoidosis, as well as with some lymphoproliferative disorders such as T cell large granular lymphocytic leukemia [31]. In addition, IBM has been observed in patients with chronic viral infections such as HIV and Hepatitis C [32,33]. As such, screening laboratory testing for antinuclear antibodies (ANA), anti-Ro(SSA), anti-La(SSB), serum immunofixation, human immunodeficiency virus (HIV), and hepatitis C should also be obtained.

Electromyography — Electromyography (EMG) and nerve conduction studies are extremely useful tests in all patients with suspected muscle disease. EMG in IBM typically reveals an "irritable myopathy" with increased insertional activity, fibrillations, positive waves, and early recruitment of short-duration, small-amplitude polyphasic motor unit action potentials (MUAPs). Fasciculations are not observed. These findings strongly suggest a diagnosis of inflammatory myopathy. In some muscles, EMG may show reduced recruitment and a mixture of short and long duration, small- and large-amplitude polyphasic MUAPs. This mixed pattern of myopathic and "neurogenic"-appearing units is more typical of IBM than polymyositis or dermatomyositis [16,20,34,35]. Nerve conduction studies are usually normal, but may show a concomitant peripheral neuropathy in some cases. (See "Overview of electromyography" and "Overview of nerve conduction studies".)

Magnetic resonance imaging — Magnetic resonance imaging (MRI) is useful in evaluating patients with suspected myopathy including IBM who present with equivocal weakness and/or mildly elevated muscle enzymes. MRI has the advantage of sampling wide areas of muscle as opposed to muscle biopsy that may miss a diagnosis due to sampling error. While there are no findings on MRI studies that are diagnostic for IBM, there are some disease-specific patterns of muscle involvement that may support the diagnosis and help distinguish IBM from polymyositis [36-38]. For example, MRI of the thigh typically shows edema, atrophy, and fatty replacement of the anterior compartment with relative sparing of the medial and posterior compartments.

Muscle biopsy — Muscle biopsy may be diagnostic in IBM and in many cases can distinguish it from polymyositis and other muscle diseases, which is not always possible on a clinical basis. We biopsy muscles that are only moderately weak (4 or 4+ on MRC scale) and prefer biceps or quadriceps muscles. MRI and EMG may be useful in guiding the selection of a muscle for biopsy, as the diagnostic yield for biopsy is low in muscles with extensive atrophy and/or fatty replacement. However, in some cases, the muscle biopsy in IBM is nonspecific and the diagnosis depends on a combination of clinical findings and a biopsy consistent with IBM.

The histologic features on muscle biopsy associated with IBM include [34]:

Mononuclear cell infiltration of non-necrotic muscle fibers. The infiltrate is predominantly CD8+ T lymphocytes and macrophages. Major histocompatibility complex (MHC)-I is upregulated on immunostaining. These are histologic features of an inflammatory myopathy and are also seen in polymyositis [39].

Sarcoplasmic "rimmed" vacuoles that are red-rimmed on modified trichrome stain and blue-rimmed on hematoxylin and eosin (H&E). It is important to note, however, that as many as 20 to 30 percent of any given muscle biopsy in IBM may lack the canonical rimmed vacuoles.

Myofiber degeneration, regeneration, and necrosis may be seen. Variability of fiber size with scattered atrophic fibers is common.

Abundant "COX [cytochrome oxidase]-negative" fibers suggestive of mitochondrial abnormalities is common [40].

On electron microscopy, the inclusions are shown to consist of 15 to 18 nm tubulofilaments that are not present in other inflammatory myopathies. These inclusions can be seen in the sarcoplasm and within myonuclei.

Amyloid deposits in vacuolated fibers identified by Congo red staining are occasionally observed [41].

Immunostaining for p62 and TDP-43 labeled characteristic protein aggregates. These inclusions are much more common than amyloid, and the presence of fibers on biopsy that contain these protein aggregates increases diagnostic certainty for IBM [42-44].

The commonly used Griggs criteria require the presence of rimmed vacuoles, mononuclear inflammatory cells invading non-necrotic muscle fibers, and the presence of either amyloid deposits or tubulofilaments by electron microscopy for pathologically definite IBM is highly specific when all three components are present, but lacks sensitivity and is rarely used clinically [45]. There may be sampling variability, and not all of the histologic features may be present in early disease but may appear on subsequent biopsies. Furthermore, electron microscopy of muscle tissue is only performed routinely at a few specialized centers.

Immunohistologic and electron-microscopic evaluation of the tissue require freshly frozen muscle and special fixatives. A discussion of the technical aspects of muscle biopsy is discussed in detail elsewhere. (See "Diagnosis and differential diagnosis of dermatomyositis and polymyositis in adults", section on 'Muscle biopsy'.)

The best diagnostic information can be expected from a laboratory that frequently processes muscle biopsy specimens and whose staff is provided with detailed clinical information. This may be facilitated by a discussion between the clinician requesting the biopsy, the surgeon, and pathologist prior to the procedure, or by referral of the patient to a center with the necessary laboratory facilities.

PROPOSED DIAGNOSTIC CRITERIA — Several diagnostic criteria have been developed based on expert opinion and consensus groups [45-48]. While these diagnostic criteria are essential for the purposes of research and classifying patients for clinical trials, their clinical use is often limited by a lack of sensitivity [13]. A relatively simple and clinically useful set of criteria has been proposed that has 90 percent sensitivity and 96 percent specificity among 371 patients with muscle diseases [13]:

Finger flexor or quadriceps weakness

Endomysial inflammation

Invasion of nonnecrotic muscle fibers or rimmed vacuoles

The proposed European Neuromuscular Centre (ENMC) 2011 "Clinically Defined" diagnostic criteria diagnose inclusion body myositis (IBM) with >99 percent specificity but a sensitivity of only 57 percent (ie, approximately 43 percent of IBM patients seen in routine clinical practice will not satisfy these definite criteria, typically due to hip flexor weakness > knee extensor weakness) (table 2) [13,49]. These criteria are currently being used in clinical trials.

DIFFERENTIAL DIAGNOSIS — While it is beyond the scope of this review to provide a comprehensive list of all possible alternative causes of a myopathy (table 3), we present several disorders that can resemble inclusion body myositis (IBM) here:

Polymyositis – IBM and polymyositis can in some cases be difficult to distinguish clinically or by muscle biopsy. In the absence of rimmed vacuoles or protein aggregates found on immunostaining or electron microscopy, the muscle biopsy in IBM may only demonstrate endomysial inflammation that closely resembles that seen in polymyositis. Combining clinical and histologic findings increases the chance of a correct diagnosis. The lack of response to high-dose steroids should lead to a reevaluation of the diagnosis of polymyositis, which is increasingly recognized as a rare entity [50]. (See "Diagnosis and differential diagnosis of dermatomyositis and polymyositis in adults", section on 'Differential diagnosis'.)

Hereditable myopathies

Hereditary inclusion body myositis (hIBM) – These patients present with slowly progressive muscle weakness (variously labeled familial distal myopathy, autosomal recessive hereditary inclusion body myopathies, and distal myopathy with rimmed vacuole formation), usually with marked distal muscle group involvement, and the muscle biopsy shows a vacuolar myopathy with inclusions [45,51-53]. In contrast to sporadic IBM, the onset of weakness is usually in early adulthood and spares quadriceps muscles. The family history and a paucity of inflammation on histologic examination help to distinguish these rare heritable disorders from sporadic IBM.

The most common cause of hIBM is "GNE myopathy" (hIBM2), an autosomal recessive form of inclusion body myopathy caused by mutations in the gene for UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) [53,54]. Some endomysial inflammation was noted in two patients with this disorder, both of whom had compound heterozygous mutations in their GNE genes [55].

Multisystem proteinopathy (MSP) – With the advent of whole exome sequencing, it is becoming increasingly evident that many hIBM families have a pleiotropic degenerative disorder that may affect muscle, bone, and the nervous system [56]. The originally described phenotype of autosomal dominantly inherited IBM with Paget disease of bone (PDB) and frontotemporal dementia (IBMPFD) caused by mutations in the gene for valosin-containing protein (VCP) [57,58], has been expanded to include neurodegeneration of motor neurons, peripheral nerves, and other neuronal subtypes [56]. Furthermore, mutations in other genes including SQSTM1/p62, hnRNPA1, hnRNPA2B1, and Matrin-3 can cause a similar MSP syndrome. That similar protein aggregates and rimmed vacuoles are observed in muscle in these patients with a multisystem degenerative disease suggests an intriguing pathophysiologic link between sporadic IBM and neurodegenerative diseases. The genetic, clinical, and histological features of these rare diseases are just being described, but can usually be distinguished from sporadic IBM by the absence of inflammation on muscle biopsy.

Muscular dystrophy – Other inherited myopathies that variably show rimmed vacuoles and/or inflammation on muscle biopsy can occasionally be misdiagnosed as IBM, in particular oculopharyngeal muscular dystrophy (OPMD), fascioscapulohumeral dystrophy (FSHD), and limb girdle muscular dystrophy (LGMD), distal myopathies, and myofibrillar myopathies. The correct diagnosis can usually be suspected based on the earlier age of onset, the pattern of weakness, and/or family history. Diagnosis is confirmed by genetic testing. (See "Oculopharyngeal, distal, and congenital muscular dystrophies" and "Limb-girdle muscular dystrophy" and "Facioscapulohumeral muscular dystrophy".)

Drug-induced myopathies – Vacuolar changes are also present in drug-induced myopathy due to colchicine and chloroquine. The more acute presentation and drug history differentiate these conditions from IBM. (See "Drug-induced myopathies".)

Amyotrophic lateral sclerosis – Patients with IBM who have predominantly distal or asymmetric involvement may resemble motor neuron disease or peripheral neuropathies with predominantly lower motor neuron involvement. Electrophysiologic testing and muscle biopsy may be necessary to establish the correct diagnosis. Electromyography (EMG) of the forearm flexor muscles may be particularly useful in distinguishing the primarily myopathic features of IBM from the neurogenic features of ALS [59]. (See "Diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease".)

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Inclusion body myositis".)

INFORMATION FOR PATIENTS — UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5th to 6th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10th to 12th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.

Here are the patient education articles that are relevant to this topic. We encourage you to print or e-mail these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient info" and the keyword(s) of interest.)

Beyond the Basics topics (see "Patient education: Polymyositis, dermatomyositis, and other forms of idiopathic inflammatory myopathy (Beyond the Basics)")

SUMMARY AND RECOMMENDATIONS

Inclusion body myositis (IBM) is a rare sporadic disorder in adults that causes muscle weakness with an insidious onset. The distribution of weakness can be either symmetric or asymmetric, and both proximal and distal muscle groups can be involved. Dysphagia occurs in about one-third of patients. (See 'Epidemiology' above and 'Clinical manifestations' above.)

Muscle enzymes are typically normal or mildly elevated in IBM, with creatine kinase (CK) levels generally being less than 10 times normal. (See 'Laboratory abnormalities' above.)

The diagnosis of sporadic IBM depends upon the presence of characteristic clinical and laboratory findings which include a slowly progressive muscle weakness with early involvement of the quadriceps muscles and wrist/finger flexors, and elevated muscle enzymes. (See 'Diagnosis' above.)

A muscle biopsy should be performed in patients with suspected IBM. However, histopathologic confirmation is not always possible, and the diagnosis may still be made based on characteristic clinical findings. (See 'Diagnosis' above.)

Muscle biopsy findings that are highly specific for IBM include the presence of rimmed vacuoles, mononuclear cell inflammatory infiltrate of non-necrotic muscle fibers, and the presence of either amyloid deposits or tubulofilaments by electron microscopy. (See 'Muscle biopsy' above.)

Findings on electromyography (EMG) and magnetic resonance imaging (MRI) may also help support the diagnosis of IBM when present. EMG typically reveals an "irritable myopathy" with increased insertional activity, fibrillations, positive waves, and early recruitment of short-duration, small-amplitude polyphasic motor unit action potentials (MUAPs). MRI abnormalities in IBM tend to be localized to the anterior muscle groups. (See 'Magnetic resonance imaging' above and 'Electromyography' above.)

The differential diagnosis of IBM includes other idiopathic inflammatory myopathies (eg, dermatomyositis and polymyositis), hereditable inclusion body myopathies (hIBM), drug-induced myopathies, and amyotrophic lateral sclerosis. (See 'Differential diagnosis' above.)

ACKNOWLEDGMENT — The UpToDate editorial staff acknowledges Marc L Miller, MD, who contributed to an earlier version of this topic review.

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Topic 5163 Version 31.0

References

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