Living with PMP22-RAI1 contiguous gene duplication syndrome
A rare nervous system condition combining developmental delay, sleep and behavior issues, and nerve damage that weakens the legs.
Understanding PMP22-RAI1 contiguous gene duplication syndrome
It combines features of Potocki-Lupski syndrome and Charcot-Marie-Tooth disease type 1A. Signs begin in infancy with low muscle tone, feeding problems, slow growth and delays in speech and walking. Sleep problems and behavior difficulties are common. Later in childhood, nerve damage can cause loss of feeling, leg muscle wasting and weakness, and foot differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy
- Feeding problems and slow weight gain
- Delayed speech and walking
- Sleep problems
- Weak lower legs and foot drop
- Reduced feeling and reflexes in the arms and legs
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
The Foundation for Peripheral Neuropathy 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: The Foundation for Peripheral Neuropathy
- 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 Chromosome Disorder Outreach 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
GARD says changes in genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough. The name points to the PMP22 and RAI1 genes.
Also known as: 17p11.2p12 microduplication syndrome; dup(17)(p11.2p12); peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome; trisomy 17p11.2-p12; trisomy 17p11.2p12; yuan harel lupski syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with PMP22-RAI1 contiguous gene duplication syndrome.
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