Living with Spastic paraparesis-deafness syndrome
A rare X-linked condition with leg stiffness starting in late childhood and hearing loss.
Understanding Spastic paraparesis-deafness syndrome
Leg stiffness and weakness (spastic paraparesis) begin in late childhood, along with hearing loss. Other features can include retinal changes, cataracts, short stature, underactive sex glands, tremor and reduced sensation. GARD notes there have been no further descriptions in the medical literature since 1986.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, weak legs (spastic paraparesis)
- Hearing loss
- Cataracts
- Short stature
- Underactive sex glands (hypogonadism)
- Reduced pain sensation
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 ear, nose, and throat 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
- Ear, nose, and throat specialists (otolaryngologists); 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 changes in genes cause this condition, but it doesn't list a gene. The condition is X-linked, meaning the gene is on the X chromosome.
Also known as: spastic paraparesis and deafness; spastic paraparesis co-occurrent with deafness; spastic paraparesis-hearing loss syndrome; wells jankovic syndrome; wells-jankovic syndrome
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 Spastic paraparesis-deafness syndrome.
Explore research for Spastic paraparesis-deafness syndrome
Explore actively recruiting Spastic paraparesis-deafness syndrome studies with HealthSpark.
Find actively recruiting studies for Spastic paraparesis-deafness syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Spastic paraparesis-deafness syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Spastic paraparesis-deafness syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Spastic paraparesis-deafness syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.