Living with Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
A rare genetic muscle condition with newborn weakness, breathing and feeding problems, dry skin, and loose joints.
Understanding Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Babies have low muscle tone, trouble breathing, and feeding difficulties. Motor skills are delayed, and weakness is greatest in muscles near the center of the body, leading to poor head control, a stiff neck, and severe scoliosis (curved spine). Joints are very loose, and the skin is dry with rough bumps (follicular hyperkeratosis).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Breathing trouble from weak muscles
- Feeding difficulties
- Poor head control
- Very loose joints (joint hypermobility)
- Dry skin
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TRIP4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the TRIP4 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital muscular dystrophy davignon chauveau type; congenital muscular dystrophy, davignon-chauveau type; congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome; mdcdc; muscular dystrophy, congenital, davignon-chauveau type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome.
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