Living with Autosomal recessive myogenic arthrogryposis multiplex congenita
A rare inherited muscle condition with stiff joints present from birth and weakness that slowly worsens.
Understanding Autosomal recessive myogenic arthrogryposis multiplex congenita
Babies move less before birth, often noticed in the second trimester, and are born with stiff joints in the arms and legs, often on both sides. Newborns have very low muscle tone and clubfoot on both sides. Motor milestones are delayed, and the condition slowly worsens, with loss of walking after the first ten years of life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff joints from birth (arthrogryposis)
- Clubfoot on both sides
- Low muscle tone in newborns
- Fewer baby movements before birth
- Mild facial weakness
- Scoliosis
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 SYNE1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Arthrogryposis Multiplex Congenita Support Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Arthrogryposis Multiplex Congenita Support Inc.
- 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 Arthrogryposis Multiplex Congenita Support Inc.
- 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 SYNE1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive myogenic amc; syne1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita; syne1-related amc; syne1-related arthrogryposis multiplex congenita
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Autosomal recessive myogenic arthrogryposis multiplex congenita · United States
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Perspectives from people navigating life with Autosomal recessive myogenic arthrogryposis multiplex congenita.
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