Living with Intellectual disability, autosomal recessive 58
A genetic form of intellectual disability caused by changes in the ELP2 gene, with delays in speech and development.
Understanding Intellectual disability, autosomal recessive 58
GARD describes this as non-syndromic intellectual disability, meaning intellectual disability is the main feature. People often have delayed development and delayed or absent speech.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed speech and language
- No speech
- Aggressive behavior
- Writhing, jerky movements (choreoathetosis)
- Strong reflexes (hyperreflexia)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
A mutation in the ELP2 gene causes this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive non-syndromic intellectual disability caused by mutation in elp2; elp2 autosomal recessive non-syndromic intellectual disability; intellectual developmental disorder, autosomal recessive 58; intellectual disability, autosomal recessive type 58; mrt58
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 Intellectual disability, autosomal recessive 58.
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