Overview
Myosclerosis, also known as hereditary myosclerosis or myosclerosis congenita, is an extremely rare inherited muscle disorder. In this condition, the muscles throughout the body gradually become stiff and hard due to the buildup of fibrous (scar-like) tissue within the muscles. This process is sometimes called "muscle sclerosis," meaning the muscles become rigid and lose their normal flexibility. The disease typically begins in early childhood. Children may first notice tightness in their muscles, especially in the legs and trunk. Over time, the stiffness spreads to other muscles, leading to limited joint movement (contractures) and difficulty walking. The muscles themselves may not be obviously weak at first, but the stiffness makes it very hard to move normally. Affected individuals often develop a stiff, slow walking pattern and may eventually need mobility aids. Myosclerosis is caused by mutations in the COL6A2 gene, which provides instructions for making a type of collagen — a protein that supports the structure of muscles and connective tissue. Because this condition is so rare, treatment options are limited and mainly focus on managing symptoms. Physical therapy, stretching exercises, and sometimes surgery for severe joint contractures are the main approaches. There is currently no cure or disease-modifying treatment available. Research into collagen-related muscle diseases continues, offering hope for future therapies.
Also known as:
Key symptoms:
Progressive muscle stiffnessLimited joint movement (contractures)Stiff or slow walking patternDifficulty bending or stretching musclesTightness in the legs and trunkReduced range of motion in arms and legsToe walkingMild muscle weaknessDifficulty with physical activities like running or climbing stairsRigid spine or limited neck movementMuscles that feel unusually firm or hard to the touch
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 Myosclerosis.
View clinical trials →Clinical Trials
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Specialists
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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 Myosclerosis.
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 the muscle fibrosis currently, and what is the expected rate of progression?,What physical therapy program do you recommend, and how often should sessions occur?,Should we monitor breathing function, and if so, how often?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to seek urgent medical attention?,Are other family members at risk, and should they be tested?,What assistive devices or home modifications would you recommend at this stage?
Common questions about Myosclerosis
What is Myosclerosis?
Myosclerosis, also known as hereditary myosclerosis or myosclerosis congenita, is an extremely rare inherited muscle disorder. In this condition, the muscles throughout the body gradually become stiff and hard due to the buildup of fibrous (scar-like) tissue within the muscles. This process is sometimes called "muscle sclerosis," meaning the muscles become rigid and lose their normal flexibility. The disease typically begins in early childhood. Children may first notice tightness in their muscles, especially in the legs and trunk. Over time, the stiffness spreads to other muscles, leading to
How is Myosclerosis inherited?
Myosclerosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Myosclerosis typically begin?
Typical onset of Myosclerosis is childhood. Age of onset can vary across affected individuals.