Rare Oncology News

Disease Profile

Juvenile dermatomyositis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

M33.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

Juvenile DM

Categories

Kidney and Urinary Diseases; Lung Diseases; Musculoskeletal Diseases;

Summary

Juvenile dermatomyositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include weakness of the muscles close to the trunk of the body, inflammation, edema, muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures. Children with juvenile dermatomyositis may have difficulty swallowing and breathing, and the heart may also be affected. About 20 to 30 percent of children with juvenile dermatomyositis develop calcium deposits in the soft tissue. Affected children may not show higher than normal levels of the muscle enzyme creatine kinase in their blood but have higher than normal levels of other muscle enzymes.[1] Treatment is aimed at addressing the individual symptoms of each patient. This may involve a combination of medications, physical therapy and supplements.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Calcinosis
Calcium buildup in soft tissues of body
0003761
Dry skin
0000958
Elevated C-reactive protein level
0011227
Elevated erythrocyte sedimentation rate
High ESR
0003565
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase

[ more ]

0003236
Erythema
0010783
Fatigue
Tired
Tiredness

[ more ]

0012378
Mucosal telangiectasiae
0100579
Muscle weakness
Muscular weakness
0001324
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Myositis
Muscle inflammation
0100614
Palpebral edema
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids

[ more ]

0100540
Skin rash
0000988
Telangiectasia of the skin
0100585
30%-79% of people have these symptoms
Alopecia
Hair loss
0001596
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Constipation
0002019
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity

[ more ]

0000992
Fever
0001945
Muscle spasm
0003394
Muscular hypotonia
Low or weak muscle tone
0001252
Poikiloderma
0001029
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Skin ulcer
Open skin sore
0200042
Vasculitis
Inflammation of blood vessel
0002633
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Angina pectoris
0001681
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Bundle branch block
0011710
Cardiomyopathy
Disease of the heart muscle
0001638
Cough
Coughing
0012735
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Dysphonia
Inability to produce voice sounds
0001618
Dyspnea
Trouble breathing
0002094
EMG abnormality
0003457
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Hoarse voice
Hoarseness
Husky voice

[ more ]

0001609
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Pericarditis
Swelling or irritation of membrane around heart
0001701
Pulmonary fibrosis
0002206
Weight loss
0001824

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Juvenile dermatomyositis. Click on the link to view a sample search on this topic.

          References

          1. Inflammatory Myopathies Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). July 27, 2015; https://www.ninds.nih.gov/disorders/inflammatory_myopathies/detail_inflammatory_myopathies.htm.
          2. Myositis: Treatment. The Myositis Association. March 2015; https://www.myositis.org/learn-about-myositis/treatment.