Overview
DNAJB4-related distal myopathy is an extremely rare inherited muscle disease caused by changes (mutations) in the DNAJB4 gene. This gene provides instructions for making a protein that helps other proteins fold correctly inside muscle cells. When this protein does not work properly, it leads to a buildup of abnormal protein clumps in muscle fibers, which gradually damages the muscles over time. This condition primarily affects the muscles farthest from the center of the body, known as distal muscles. This means the muscles in the hands, forearms, lower legs, and feet are usually the first to weaken. People with this disease may notice difficulty with tasks like gripping objects, buttoning shirts, walking, or climbing stairs. Over time, weakness can spread to involve other muscle groups as well. Because this disease is so newly described and extremely rare, there is currently no cure or specific treatment. Management focuses on supportive care, including physical therapy to maintain strength and mobility, occupational therapy to help with daily tasks, and assistive devices as needed. Research is still ongoing to better understand the disease and develop targeted therapies.
Key symptoms:
Weakness in the hands and fingersWeakness in the lower legs and feetDifficulty gripping or holding objectsTrouble walking or frequent trippingFoot drop (difficulty lifting the front of the foot)Muscle wasting in the hands and forearmsMuscle wasting in the lower legsDifficulty with fine motor tasks like buttoning clothesProgressive loss of muscle strength over timePossible spread of weakness to upper arms and thighs in later stages
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for DNAJB4-related distal myopathy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for DNAJB4-related distal myopathy at this time.
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Specialists
View all specialists →No specialists are currently listed for DNAJB4-related distal myopathy.
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 DNAJB4-related distal myopathy.
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 quickly is this disease likely to progress in my case?,What physical therapy or exercise program do you recommend?,Should I be monitored for breathing or heart problems?,Are there any clinical trials or research studies I could participate in?,What assistive devices might help me maintain independence?,Should my family members be tested for this gene mutation?,How often should I have follow-up appointments and what tests will be done?
Common questions about DNAJB4-related distal myopathy
What is DNAJB4-related distal myopathy?
DNAJB4-related distal myopathy is an extremely rare inherited muscle disease caused by changes (mutations) in the DNAJB4 gene. This gene provides instructions for making a protein that helps other proteins fold correctly inside muscle cells. When this protein does not work properly, it leads to a buildup of abnormal protein clumps in muscle fibers, which gradually damages the muscles over time. This condition primarily affects the muscles farthest from the center of the body, known as distal muscles. This means the muscles in the hands, forearms, lower legs, and feet are usually the first to
How is DNAJB4-related distal myopathy inherited?
DNAJB4-related distal myopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does DNAJB4-related distal myopathy typically begin?
Typical onset of DNAJB4-related distal myopathy is adult. Age of onset can vary across affected individuals.