Living with Spastic paraplegia-nephritis-deafness syndrome
A rare inherited condition with leg stiffness, hearing loss, learning challenges and kidney disease.
Understanding Spastic paraplegia-nephritis-deafness syndrome
Leg stiffness gets worse over time, in varying degrees. It comes with hearing loss in both ears, intellectual disability and kidney disease that worsens over time (progressive nephropathy). GARD notes there have been no further descriptions in the medical literature since 1988.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, weak legs
- Hearing loss
- Intellectual disability
- Kidney disease (nephropathy)
- High blood pressure
- Speech 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, ear, nose, and throat specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Spastic Paraplegia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Spastic Paraplegia Foundation
- 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 Spastic Paraplegia Foundation 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 doesn't list a gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: fitzsimmons-walson-mellor syndrome; spastic paraplegia-nephritis-hearing loss syndrome
Patient organizations
- Spastic Paraplegia FoundationSpastic paraplegia-nephritis-deafness syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spastic paraplegia-nephritis-deafness syndrome.
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