Living with PCWH syndrome
A rare genetic condition combining nerve problems, brain white matter changes, hearing and pigment features, and an intestinal nerve problem.
Understanding PCWH syndrome
The name stands for peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. In plain terms, it involves nerve and brain insulation changes, pigment differences, and a large colon lacking nerve cells. Nervous system signs range from mild to severe. Signs begin in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large colon lacking nerve cells (Hirschsprung disease)
- Constipation and belly pain
- Delays in development
- Problems with balance and coordination (ataxia)
- Blue or different-colored eyes
- Loss of hair color
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, digestive system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in SOX10 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
United Leukodystrophy Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy Foundation, 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 Pull-thru Network 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
Changes in the SOX10 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: neurologic waardenburg shah syndrome; neurologic waardenburg-shah syndrome; pcwh; pcwh - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease; peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-hirschsprung disease-waardenburg syndrome; peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-waardenburg syndrome-hirschsprung disease
Patient organizations
- Pull-thru NetworkPCWH syndrome · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with PCWH syndrome.
Explore research for PCWH syndrome
Explore actively recruiting PCWH syndrome studies with HealthSpark.
Find actively recruiting studies for PCWH syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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