An orphan disease is any disease that affects a small percentage of the population.
- Childhood dermatomyositis
- Idiopathic inflammatory myopathy
Dermatomyositis is a progressive connective tissue disorder characterized by inflammatory and degenerative changes of the muscles and skin. Skin abnormalities associated with dermatomyositis often include a distinctive reddish-purple rash (heliotrope rash) on the upper eyelids, across the cheeks and bridge of the nose in a "butterfly" distribution, the forehead, or additional skin regions; scaling and degenerative (atrophic) changes of affected skin on the extending surfaces of the knuckles, elbows, knees, and/or other regions (Gottron's sign); an abnormal accumulation of fluid (edema) in body tissues surrounding the eyes; and/or other features.
Signs & Symptoms
- muscle weakness
- muscles may be stiff, sore, and/or tender
- degeneration and muscle wasting
- awkward manner of walking
- gradual inability to perform certain tasks: such as lifting the arms, climbing steps, or dressing
- inability to raise the head from the pillow when lying down
- difficulties swallowing (dysphagia)
- distinctive reddish-purple or lilac (i.e., heliotrope) rash
The specific underlying cause or causes of dermatomyositis remain unknown. However, evidence suggests that genetic, immune, and environmental factors play some role.
- Infancy through approximately age 80
- More commonly between 40 to 60 years
- Symptoms usually appear between the ages of five to 15 years
- Approximately three in 1,000,000 children are affected by juvenile dermatomyositis
- Females are affected by Dermatomyositis twice as often as males.
- Inclusion Body Myositis
- Systemic lupus erythematosus (SLE)
Dermatomyositis may be diagnosed based upon a detailed patient history, thorough clinical examination, detection of characteristic physical findings, and certain specialized tests.
- The treatment of dermatomyositis is directed toward the specific symptoms that are apparent in each individual
- Affected children may initially require high dose therapy with prednisone, which often results in a return of muscle enzyme levels toward normal levels within about one to two weeks
- As with adults, decreased muscle inflammation and improved muscle strength typically follow.
- Therapy with other immunosuppressive drugs, such as azathioprine, methotrexate, cyclophosphamide, chlorambucil, or cyclosporine, may be beneficial for some affected individuals who have an insufficient response to corticosteroid therapy alone, dose-limiting adverse effects, or frequent relapses.
- American Autoimmune &Related Diseases
- Myositis Association
- Arthritis Foundation
- Muscular Dystrophy Association