Living with Congenital generalized hypercontractile muscle stiffness syndrome
A rare genetic muscle condition seen before and just after birth, with stiff muscles, tight joints and breathing problems.
Understanding Congenital generalized hypercontractile muscle stiffness syndrome
Babies move less before birth and have stiff muscles throughout the body at birth. Other features include tight joints, short stature, a rounded upper back, facial differences and trouble regulating temperature. Breathing problems with low oxygen vary in how severe they are.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists:
- Less fetal movement
- Stiff muscles at birth
- Tight joints (contractures)
- Short stature
- Rounded upper back (kyphosis)
- Breathing problems with low oxygen
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TPM3 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
Changes in the TPM3 gene are listed. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
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 generalized hypercontractile muscle stiffness syndrome.
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