Living with Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
A rare genetic syndrome with severe intellectual disability, loss of motor skills, and joints that tighten over time.
Understanding Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Motor skills and speech stop developing and then regress. Joint contractures start in the lower limbs after birth and slowly move upward to the spine and neck, which leads to a fixed position. GARD lists onset in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Tight joints (contractures) in the legs, knees, and elbows
- Loss of developmental skills
- No speech development
- Seizures with fever
- Large tongue and wide mouth
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 ERLIN2 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
This condition is caused by changes in the ERLIN2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome; idmdc; recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome
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
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