Overview
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome is a very rare form of muscular dystrophy that begins in childhood. This condition causes progressive tightening of the joints (called contractures), meaning that over time it becomes harder to fully bend or straighten certain joints such as the elbows, ankles, and spine. Along with contractures, children develop weakness in the muscles around the shoulders and hips, known as limb-girdle weakness. This pattern of weakness makes it increasingly difficult to raise the arms, climb stairs, or get up from the floor. The disease is caused by genetic changes that affect the proteins needed for healthy muscle function. Over time, the muscles gradually break down and are replaced by scar tissue and fat, which is the hallmark of muscular dystrophy. Some patients may also develop breathing difficulties or heart problems as the disease progresses. There is currently no cure for this condition. Treatment focuses on managing symptoms, preserving mobility for as long as possible, and preventing complications. Physical therapy, stretching programs, bracing, and sometimes surgery can help manage contractures. Respiratory support and cardiac monitoring may be needed as the disease advances. Research into gene-based therapies and other novel treatments is ongoing but no specific approved therapy exists for this syndrome at this time.
Key symptoms:
Progressive joint stiffness and contractures, especially at elbows, ankles, and spineWeakness in shoulder and hip muscles (limb-girdle pattern)Difficulty raising arms above the headTrouble climbing stairs or getting up from the floorWaddling gait or walking on tiptoesRigid or stiff spineProgressive loss of ability to walkMuscle wasting over timeBreathing difficulties in later stagesPossible heart involvementFatigue during physical activitiesDifficulty with fine motor tasks as disease progresses
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 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy 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 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy 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.What specific genetic mutation is causing my child's condition, and does it help predict how the disease will progress?,How often should my child have heart and lung function tests?,What physical therapy program do you recommend to slow the progression of contractures?,Are there any clinical trials or experimental treatments my child might be eligible for?,When should we consider using mobility aids or respiratory support?,What school accommodations should we request for my child?,Are other family members at risk, and should they be tested?
Common questions about Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
What is Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome?
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome is a very rare form of muscular dystrophy that begins in childhood. This condition causes progressive tightening of the joints (called contractures), meaning that over time it becomes harder to fully bend or straighten certain joints such as the elbows, ankles, and spine. Along with contractures, children develop weakness in the muscles around the shoulders and hips, known as limb-girdle weakness. This pattern of weakness makes it increasingly difficult to raise the arms, climb stairs, or get up from the fl
How is Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome inherited?
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome typically begin?
Typical onset of Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome is childhood. Age of onset can vary across affected individuals.