Overlap myositis

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Overview

Overlap myositis is a form of idiopathic inflammatory myopathy (IIM) characterized by the combination of features of polymyositis or dermatomyositis with clinical manifestations of another systemic autoimmune connective tissue disease, such as systemic lupus erythematosus, systemic sclerosis (scleroderma), rheumatoid arthritis, Sjögren syndrome, or mixed connective tissue disease. It is also referred to as myositis overlap syndrome or overlap inflammatory myopathy. This condition primarily affects the musculoskeletal system, causing proximal muscle weakness and elevated muscle enzymes (such as creatine kinase), but also frequently involves other organ systems including the skin, lungs (interstitial lung disease), joints (arthritis or arthralgia), and the gastrointestinal tract (dysphagia, esophageal dysmotility). Raynaud phenomenon, mechanic's hands, and sclerodactyly may also be present depending on the associated connective tissue disease. Overlap myositis is commonly associated with specific myositis-specific or myositis-associated autoantibodies, including anti-PM-Scl, anti-U1-RNP, anti-Ku, and anti-synthetase antibodies (such as anti-Jo-1). The presence of these antibodies often helps define the clinical phenotype and may guide prognosis. Interstitial lung disease is a particularly important complication that can significantly affect morbidity and mortality, and screening with pulmonary function tests and high-resolution CT imaging is recommended. Treatment of overlap myositis typically involves immunosuppressive therapy. First-line treatment generally includes systemic corticosteroids (such as prednisone), often combined with steroid-sparing immunosuppressive agents such as methotrexate, azathioprine, mycophenolate mofetil, or calcineurin inhibitors (tacrolimus, cyclosporine). In refractory cases, intravenous immunoglobulin (IVIG), rituximab, or other biologic agents may be considered. Physical rehabilitation and monitoring for organ-specific complications, particularly pulmonary and cardiac involvement, are essential components of long-term management. Prognosis varies depending on the severity of organ involvement and response to treatment, but overlap myositis may carry a better muscular prognosis compared to some other IIM subtypes, though extramuscular manifestations can be challenging.

Also known as:

Clinical phenotype terms— hover any for plain English:

Abnormal circulating lipid concentrationHP:0003119Proximal upper limb muscle weaknessHP:0008997SclerodactylyHP:0011838Finger swellingHP:0025131Constitutional symptomHP:0025142Anti-topoisomerase I antibody positivityHP:0030859Raynaud phenomenonHP:0030880Anti-Sm antibody positivityHP:0033040Anti-Ro/SS-A antibody positivityHP:0033555Anti-PM-Scl antibody positivityHP:0033560Anti-Ku antibody positivityHP:0034088Anti-Ro52/TRIM21 antibody positivityHP:0034093
Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Overlap myositis.

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No actively recruiting trials found for Overlap myositis at this time.

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No specialists are currently listed for Overlap myositis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Overlap myositis.

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Common questions about Overlap myositis

What is Overlap myositis?

Overlap myositis is a form of idiopathic inflammatory myopathy (IIM) characterized by the combination of features of polymyositis or dermatomyositis with clinical manifestations of another systemic autoimmune connective tissue disease, such as systemic lupus erythematosus, systemic sclerosis (scleroderma), rheumatoid arthritis, Sjögren syndrome, or mixed connective tissue disease. It is also referred to as myositis overlap syndrome or overlap inflammatory myopathy. This condition primarily affects the musculoskeletal system, causing proximal muscle weakness and elevated muscle enzymes (such as

How is Overlap myositis inherited?

Overlap myositis follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Overlap myositis typically begin?

Typical onset of Overlap myositis is adult. Age of onset can vary across affected individuals.