Living with Ptosis-vocal cord paralysis syndrome
A rare inherited condition present from birth with drooping eyelids and paralysis of the nerves to the voice box.
Understanding Ptosis-vocal cord paralysis syndrome
It combines drooping of both upper eyelids (ptosis) with paralysis of both nerves that control the voice box. GARD says it hasn't been described in the literature since 1983.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Drooping upper eyelids (ptosis)
- Nasal-sounding speech
- Softening of the voice box tissue (laryngomalacia)
- Short stature
- Paralysis on one side of the body
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 eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); 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
GARD says gene changes cause this condition. It is autosomal dominant, meaning one changed copy of the gene from a parent is enough.
Also known as: congenital bilateral recurrent nerve paralysis and ptosis; ptosis and vocal cord paralysis syndrome; ptosis vocal cord paralysis; tucker syndrome; vocal cord paralysis and ptosis
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 Ptosis-vocal cord paralysis syndrome.
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