This study of inflammatory muscle diseases-polymyositis and dermatomyositis and related
disorders-will examine what causes these diseases and describe the clinical features (signs
and symptoms) associated with them. Inflammation and degeneration of skeletal muscles in
these disorders leads to weakness and muscle wasting. The skin, lungs and other organs may
also be involved.
Patients 16 years of age and older with polymyositis, dermatomyositis, or a related disorder
may be eligible for this study. Participants will undergo a complete history and physical
examination, including routine blood and urine tests. Additional procedures for diagnosis,
treatment or research may include:
1. Blood sample for genetic studies.
2. Muscle biopsy-removal of a tissue sample for microscopic examination. Under local
anesthetic, a 1/2- to 1-inch long incision is made in the thigh or upper arm, and a
small piece of muscle is removed.
3. Electromyography-measurement of the electrical activity of a muscle. A needle is
inserted through the skin into a muscle to record its electrical activity.
4. Magnetic resonance imaging-visualization of organs or tissues, using a magnetic field
and radio waves. The patient lies on a table inside a narrow cylinder (the MRI scanner)
with a strong magnetic field for the scanning.
5. Manual muscle strength testing by a physiotherapist.
6. Swallowing studies using ultrasound (imaging using sound waves) and X-rays (barium
swallow) to evaluate swallowing and speaking abilities.
7. Questionnaires on swallowing ability and ability to perform daily living activities
8. Pulmonary function tests-measurement of movement of air in and out of the lungs. The
patient breathes into a machine to evaluate lung function.
9. Chest X-rays to evaluate lung function.
10. Electrocardiogram and, if necessary, Holter monitoring (measurement of the electrical
activity of the heart) and echocardiogram (ultrasound imaging of the heart) to evaluate
11. Apheresis-collection of white blood cells for research. Whole blood is collected through
a needle placed in an arm vein. The blood circulates through a machine that separates it
into its components. The white cells are removed and the rest of the blood is returned
to the body through the same needle or through a second one placed in the other arm.
12. MR guided muscle biopsy-measurement of glycogen in muscle tissue using magnetic
resonance imaging. Certain patients may undergo this experimental procedure to compare
MRI findings with those of muscle biopsy. The affected muscles are identified using MRI
and the biopsy incision is made. MRI is then used to guide the biopsy needle to the
muscle and a small piece is removed.
Patients who are eligible for experimental treatment studies will be offered the opportunity
to join them. Others will be advised of treatment recommendations.
Polymyositis, dermatomyositis and related disorders, also known as the idiopathic
inflammatory myopathies (IIM), are an uncommon, heterogeneous group of diseases. This is an
omnibus protocol designed to continue our description of this rare group of diseases, further
delineate important groups of patients, and obtain useful material for further study of
immunological abnormalities, pathogenesis and etiology of IIM. Often the diagnosis of an IIM
can be confused with other illness (such as adult-onset dystrophies), and therefore, we will
be evaluating patients with other illnesses (who are referred with a preliminary diagnosis of
an IIM). Patients evaluated with IIM will receive (with informed consent) the best standard
therapies available and consideration for entry into any therapeutic protocols. MRI will be
performed on healthy volunteers to help develop a mathematical method for quantitating edema
of muscle MRI in patients. MRI/PET will be performed on some patients and on healthy
volunteers to evaluate its role in understanding muscle disease.
- INCLUSION CRITERIA:
All eligible patients are invited to participate in this protocol. Patients are adults and
minors, aged 16 or higher, with possible idiopathic muscle disease (suspected or
confirmed). Since both men and women are affected with the disease, both sexes will be
studied. All ethnic and racial groups are at risk and will be included. Healthy volunteers
will be eligible only if they are adults aged 18 or older and only if they are willing to
provide informed consent.
- Children (age less than 16 years) are excluded
- Subjects with severe active infection (such as requiring intravenous antibiotics) or
other co-morbidities that in the opinion of the investigator would warrant exclusion.
- Subjects or their legal guardians who are unable or unwilling to give informed