Overview
JMP syndrome, also known as Joint contractures, Muscle atrophy, microcytic anemia, and Panniculitis-induced lipodystrophy syndrome, is an extremely rare inherited condition that affects multiple body systems. It is caused by problems with the immune system and fat tissue, leading to a combination of symptoms that typically begin in childhood. People with JMP syndrome often develop joint stiffness (contractures) that limits movement, wasting of muscles, a specific type of anemia where red blood cells are smaller than normal, and panniculitis — a painful inflammation of the fat layer under the skin that eventually leads to loss of fat tissue (lipodystrophy). The loss of fat tissue can change a person's appearance and may also affect how the body handles sugar and fats, sometimes leading to metabolic problems. Because JMP syndrome is so rare, there is no specific cure. Treatment focuses on managing individual symptoms. This may include physical therapy for joint stiffness, treatment for anemia, pain management for panniculitis, and monitoring for metabolic complications. A team of different specialists is usually needed to provide the best care. The condition is caused by mutations in the PSMB8 gene, which plays a role in the body's immune and inflammatory responses. JMP syndrome belongs to a group of conditions sometimes called proteasome-associated autoinflammatory syndromes (PRAAS).
Also known as:
Key symptoms:
Joint stiffness and contracturesMuscle wasting and weaknessAnemia with small red blood cells (microcytic anemia)Painful lumps under the skin (panniculitis)Loss of body fat (lipodystrophy)Fever episodesSkin rashes or nodulesEnlarged liverEnlarged spleenGrowth delay or short statureElevated inflammatory markers in bloodMetabolic problems such as abnormal blood sugar or cholesterolFatigue and low energy
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for JMP syndrome.
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Specialists
View all specialists →No specialists are currently listed for JMP syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to JMP syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my (or my child's) condition, and what symptoms should I watch for?,What treatments are available to manage the joint contractures and inflammation?,Are there any newer therapies, such as JAK inhibitors, that might help?,How often should blood tests and other monitoring be done?,Should other family members be tested for the PSMB8 gene mutation?,What physical therapy or rehabilitation programs do you recommend?,Are there any clinical trials or research studies we could participate in?
Common questions about JMP syndrome
What is JMP syndrome?
JMP syndrome, also known as Joint contractures, Muscle atrophy, microcytic anemia, and Panniculitis-induced lipodystrophy syndrome, is an extremely rare inherited condition that affects multiple body systems. It is caused by problems with the immune system and fat tissue, leading to a combination of symptoms that typically begin in childhood. People with JMP syndrome often develop joint stiffness (contractures) that limits movement, wasting of muscles, a specific type of anemia where red blood cells are smaller than normal, and panniculitis — a painful inflammation of the fat layer under the
How is JMP syndrome inherited?
JMP syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does JMP syndrome typically begin?
Typical onset of JMP syndrome is childhood. Age of onset can vary across affected individuals.