Overview
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome is a very rare inherited muscle disease that is present from birth or becomes apparent in early infancy. It belongs to a group of conditions called congenital muscular dystrophies (CMDs), which cause muscle weakness starting very early in life. This condition is sometimes referred to by its Orphanet code ORPHA:486815 and is caused by changes (mutations) in the LAMA2 gene, though some cases may involve other related genes. The disease affects several body systems at once. The muscles are weak from birth, making it hard for babies to move, feed, and breathe normally. The breathing muscles can become so weak that a breathing machine (ventilator) may be needed. The skin may look unusual, with changes in texture or structure. The joints are often very loose and flexible (hyperlaxity), which can lead to dislocations and posture problems. There is currently no cure for this condition. Treatment focuses on managing symptoms, supporting breathing, protecting the joints, and improving quality of life. A team of specialists — including neurologists, pulmonologists, and physiotherapists — work together to help patients and families. Early diagnosis and proactive care can make a meaningful difference in day-to-day life.
Also known as:
Key symptoms:
Severe muscle weakness from birth or early infancyDifficulty breathing, sometimes requiring a ventilatorVery loose, flexible joints (joint hyperlaxity)Skin that looks or feels abnormal (may be thin, fragile, or have unusual texture)Poor muscle tone (floppy baby appearance)Difficulty feeding as a newbornDelayed or absent motor milestones such as sitting or walkingSpine curvature (scoliosis) developing over timeContractures (stiffening of joints that limits movement)Respiratory infections that are hard to recover from
Clinical phenotype terms (30)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity 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 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity 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 gene mutation has been found, and what does it mean for my child's prognosis?,When should we start respiratory support, and what type is most appropriate?,What physiotherapy and rehabilitation program do you recommend, and how often should we do it?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to go to the emergency room immediately?,Should other family members be tested for this genetic change?,What support services — such as home nursing, equipment, or school accommodations — are available to us?
Common questions about Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
What is Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome?
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome is a very rare inherited muscle disease that is present from birth or becomes apparent in early infancy. It belongs to a group of conditions called congenital muscular dystrophies (CMDs), which cause muscle weakness starting very early in life. This condition is sometimes referred to by its Orphanet code ORPHA:486815 and is caused by changes (mutations) in the LAMA2 gene, though some cases may involve other related genes. The disease affects several body systems at once. The muscles are weak from b
How is Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome inherited?
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome typically begin?
Typical onset of Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome is neonatal. Age of onset can vary across affected individuals.