Living with Rigid spine syndrome
A slowly worsening muscle condition starting in infancy or childhood that stiffens the spine and weakens neck and trunk muscles.
Understanding Rigid spine syndrome
Tight spine muscles limit neck and trunk bending and can change posture. Scoliosis gets worse over time. Neck and trunk muscles weaken early, while arm and leg strength and function are better kept. Breathing problems can slowly worsen. It begins in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff spine (spinal rigidity)
- Scoliosis
- Neck muscle weakness and poor head control
- Low muscle tone
- Joint tightness (contractures)
- Breathing difficulty (respiratory insufficiency)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- 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 Muscular Dystrophy Association and other patient organizations
- 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 a gene and is autosomal recessive, so a child inherits a changed copy of the gene from each parent. GARD does not name a gene in this record.
Also known as: rigid spine congenital muscular dystrophy; rss
Patient organizations
- Muscular Dystrophy AssociationRigid spine syndrome · United States
- Cure CMD - Congenital Muscular DystrophyRigid spine syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Rigid spine syndrome.
Explore research for Rigid spine syndrome
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