Overview
This study will evaluate subjects with adult- and childhood-onset myositis to learn more about their cause and the immune system changes and medical problems associated with them. Myositis is an inflammatory muscle disease that can damage muscles and other organs, resulting in significant disability.
Children or adults with polymyositis or dermatomyositis or a related condition may be evaluated under this study. Healthy children or adults will also be enrolled as "controls," for comparison of test results.
All patients will undergo a complete history (including completing some questionnaires) and physical examination, review of medical records, and blood and urine tests. Patients may then choose to participate in an additional 1- to 5-day evaluation, which will include some or all of the following diagnostic, treatment or research procedures:
- Standardized muscle strength testing, range of motion of joints and walking (gait) analysis by a physiotherapist; completion of a questionnaire regarding ability to perform daily tasks
- Skin assessment, possibly including photographs of lesions and a skin biopsy (removal of a small skin sample under local anesthetic)
- Magnetic resonance imaging (scans that use magnetic fields to visualize tissues) of leg muscles
- Swallowing studies, including a physical examination and questionnaire on swallowing ability, studies of tongue strength, and ultrasound imaging during swallowing, and possibly, a modified barium swallow
- Voice and speech assessment, possibly including computerized voice analysis and laryngoscopy-analysis of the larynx (voice box) using a small rigid scope with a camera placed in the mouth to view and record vocal cord function
- Pulmonary function tests (measurement of air moved into and out of the lungs, using a breathing machine) to evaluate lung function and, possibly, chest X-ray
- Electrocardiogram (measurement of the electrical activity of the heart) and, possibly, echocardiogram (ultrasound imaging of the heart)
- Endocrine evaluation
- Eye examination, in patients with vision loss or other eye symptoms
- Nutrition assessment to evaluate muscle mass and muscle wasting, including tape measurements or bioelectric impedance testing, a painless procedure in which wires are attached to the extremities with a sticky paste.
- Muscle ultrasound.
- Electromyography (record of the electrical activity of muscles)
- Muscle or skin biopsy (removal of a small piece of muscle tissue for microscopic examination)
All patients may have only a one-time evaluation or may return for one follow-up evaluations (either the 1-day or 3- to 5-day evaluation) over a 1-year period.
Healthy children will undergo a medical history and brief physical examination; blood and urine tests; speech and swallowing studies including questionnaires and physical examination, tongue strength, and ultrasound study; and bioelectric impedance testing. Children 8 to 18 years old may also have exercise testing.
Description
This study will evaluate subjects with adult- and childhood-onset myositis to learn more about their cause and the immune system changes and medical problems associated with them. Myositis is an inflammatory muscle disease that can damage muscles and other organs, resulting in significant disability.
Children or adults with polymyositis or dermatomyositis or a related condition may be evaluated under this study. Healthy children or adults will also be enrolled as "controls," for comparison of test results.
All patients will undergo a complete history (including completing some questionnaires) and physical examination, review of medical records, and blood and urine tests. Patients may then choose to participate in an additional 1- to 5-day evaluation, which will include some or all of the following diagnostic, treatment or research procedures:
- Standardized muscle strength testing, range of motion of joints and walking (gait) analysis by a physiotherapist; completion of a questionnaire regarding ability to perform daily tasks
- Skin assessment, possibly including photographs of lesions and a skin biopsy (removal of a small skin sample under local anesthetic)
- Magnetic resonance imaging (scans that use magnetic fields to visualize tissues) of leg muscles
- Swallowing studies, including a physical examination and questionnaire on swallowing ability, studies of tongue strength, and ultrasound imaging during swallowing, and possibly, a modified barium swallow
- Voice and speech assessment, possibly including computerized voice analysis and laryngoscopy-analysis of the larynx (voice box) using a small rigid scope with a camera placed in the mouth to view and record vocal cord function
- Pulmonary function tests (measurement of air moved into and out of the lungs, using a breathing machine) to evaluate lung function and, possibly, chest X-ray
- Electrocardiogram (measurement of the electrical activity of the heart) and, possibly, echocardiogram (ultrasound imaging of the heart)
- Endocrine evaluation
- Eye examination, in patients with vision loss or other eye symptoms
- Nutrition assessment to evaluate muscle mass and muscle wasting, including tape measurements or bioelectric impedance testing, a painless procedure in which wires are attached to the extremities with a sticky paste.
- Muscle ultrasound.
- Electromyography (record of the electrical activity of muscles)
- Muscle or skin biopsy (removal of a small piece of muscle tissue for microscopic examination)
All patients may have only a one-time evaluation or may return for one follow-up evaluations (either the 1-day or 3- to 5-day evaluation) over a 1-year period.
Healthy children will undergo a medical history and brief physical examination; blood and urine tests; speech and swallowing studies including questionnaires and physical examination, tongue strength, and ultrasound study; and bioelectric impedance testing. Children 8 to 18 years old may also have exercise testing.
Eligibility
- ELIGIBILITY CRITERIA:
Patients with Myositis:
Inclusion Criteria:
All patients should have age range 2- 100 years.
All Patients admitted to the study must satisfy at least one of the following criteria among item 1 (A or B or C) OR item 2 (A or B or C) AND item 3: 1. Patient has documented evidence that he/she meets criteria for an idiopathic inflammatory myopathy A. Possible, probable or definite adult or juvenile polymyositis or dermatomyositis by Bohan and Peter criteria B. Possible, probable or definite inclusion body myositis by Griggs and/or ENMC criteria C. Has an idiopathic inflammatory myopathy that does not meet these criteria, including common or rarer forms of myositis such as cancer- associated, focal, orbital, eosinophilic myositis, macrophagic, proliferative, etc. 2. Has one of the following conditions: 2A. Have a disorder that is related to an idiopathic inflammatory myopathy, that may include: - Inflammatory and non-inflammatory myopathies: - Mimicking and related skin disorders: - Disorders of the complications of myositis (including interstitial lung disease, calcifying disorders, cardiomyopathies, etc.): - Overlapping autoimmune diseases that may be associated with myositis - Patients with muscle and/or skin inflammation and documented environmental exposures: - Patients with myositis or complications of myositis and suspected genetic disorders: - Patients with undifferentiated connective tissue disease - Patients with signs or symptoms of myositis (such as weakness, skin rashes, interstitial lung disease) or laboratory abnormalities (such as elevated CK or muscle biopsy with myopathic features) who do not have an established diagnosis of myositis for them to be evaluated to establish a diagnosis 3. Ability of patient or parent/guardian to give informed consent to all or part of the study after full information has been provided. Exclusion Criteria: 1. Patients <2 years or >100 years will be excluded. 2. Any conditions in which the drawing of the amount of blood required or undergoing procedures needed for the study is not deemed medically appropriate by the treating physician or the principal investigator.] For females of childbearing potential who are pregnant, they will be permitted to enroll, but would be excluded from radiographic procedures involving radiation or greater than minimal risk procedures, including obtaining biopsies. Relatives of Patients with Myositis: For patients with at least one first-degree relative affected with IIIM, all available first-degree relatives (affected and unaffected) are eligible to participate in the genetics portion of the protocol. For patients in which two or more first degree relatives are affected with myositis, any available close relatives (affected or unaffected parents, siblings or children, as well as grandparents and grandchildren, or other close relatives, when available) are eligible to participate in the genetics portion of the protocol. Inclusion criteria: 1. First or more distant relative of a proband with myositis, for genetics studies. 2. Ability of patient or parent/guardian to give informed consent to all or part of the study after full information has been provided. Exclusion Criteria: 1. Patients <2 years or >100 years will be excluded. 2. Any conditions in which the drawing of the amount of blood required or undergoing procedures needed for the study is not deemed medically appropriate by the treating physician or the principal investigator. 3. Pregnancy (females of childbearing potential). Verbal confirmation they are not pregnant. Healthy Volunteers: Inclusion Criteria: 1. Healthy volunteer subjects for biomarker studies will be gender and age-matched (within 5 years) with a myositis patient, as reasonably close as possible. 2. Volunteer is not related to a myositis patient who is enrolled in the study 3. Volunteer is in good health, without a recognized systemic rheumatic disorder, autoimmune disease, immune medicated disease, or cancer, and is not taking any anti-inflammatory medicines, including nonsteroidal anti-inflammatory drugs (NSAIDS) or corticosteroids 4. Volunteer or volunteer s parent/guardian could give assent/informed consent to all or part of the study after full information has been provided Exclusion Criteria: If Any Yes answer patient is not eligible for study 1. Volunteer has undergone surgery or had a major trauma within the past 2 months 2. Volunteer used anti-inflammatory medications within the past 8 weeks of enrollment, including not currently receiving nonsteroidal anti-inflammatory drugs or corticosteroids 3. Volunteer has been diagnosed with a chronic infectious illness, inflammatory disease, malignancy, cardiac or pulmonary disease, muscle disorder, clotting disorder, metabolic disorder, systemic rheumatic or autoimmune disease, or immune-mediated disease 4. Volunteer is pregnant (verbally screened for females of childbearing potential) 5. Volunteer has a medical illness that in the judgement of the investigators does not allow safe blood draws or other clinical evaluations needed for study participation 6. Volunteer is cognitively impaired 7. Volunteer and or the volunteer s parents/legal guardian is unable or unwilling to give informed consent/assent 8. Volunteer has functional limitations 9. Volunteer has joint or muscle problems Note that the following screening activities may be performed to determine subject eligibility: - Email, written, or telephone communications with prospective subjects - Review of existing medical records - Review of existing imaging studies - Review of existing photographs or videos - Review of existing pathology specimens/reports from a specimen obtained for diagnostic purposes