Living with Arthrogryposis multiplex congenita 2, neurogenic type
A condition present from birth with stiff, fixed joints and weak muscles caused by nerve cell development differences.
Understanding Arthrogryposis multiplex congenita 2, neurogenic type
Joints such as the wrists, elbows, fingers, knees, ankles, and hips may be affected. It occurs because of unusual development of nerve cells in the spinal cord or brainstem. It often occurs in a person with no family history, though families with several affected members have been reported. In most cases the genetic cause is unknown.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Joints stuck in a bent position (flexion contractures)
- Weak arm and leg muscles
- Muscle wasting
- No tendon reflexes
- Stiff wrists, elbows, knees, and ankles
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 and genetic specialists.
- 3Consider genetic testing
Changes in ERGIC1 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); 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
GARD lists the ERGIC1 gene and autosomal recessive inheritance. It says it often occurs with no family history and that in most cases the genetic cause remains unknown.
Also known as: amc neurogenic type; amc, neurogenic type; amc2; amcn; arthrogryposis multiplex congenita neurogenic type; neurogenic arthrogryposis multiplex congenita
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Arthrogryposis multiplex congenita 2, neurogenic type · United States
You are more than your diagnosis
Perspectives from people navigating life with Arthrogryposis multiplex congenita 2, neurogenic type.
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