Living with Pontine tegmental cap dysplasia
A non-progressive condition present from birth that affects the hindbrain, causing developmental delay and problems with nerves in the head.
Understanding Pontine tegmental cap dysplasia
It does not get worse over time. People may have hearing loss, poor balance and coordination (ataxia), speech and language problems, feeding and swallowing difficulty, heart differences and facial paralysis. Severity varies. It is present from birth or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Intellectual disability and developmental delay
- Increased reflexes
- Hearing loss
- Poor balance and coordination (ataxia)
- Speech and language problems
- Feeding and swallowing difficulty
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists)
- 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
GARD says the cause of PTCD has not been identified.
Also known as: ptcd; ptcd - pontine tegmental cap dysplasia
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 Pontine tegmental cap dysplasia.
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