Living with Richards-Rundle syndrome
An extremely rare nerve condition starting in infancy with balance and walking problems, hearing loss, and low sex hormones.
Understanding Richards-Rundle syndrome
It includes worsening balance and coordination problems (ataxia), hearing loss, and low sex hormone levels (hypergonadotropic hypogonadism). Other nerve-related features can include muscle wasting, eye movements that jerk, intellectual disability, or dementia. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Walking problems
- Hearing impairment
- Muscle wasting in the hands and feet
- Low sex hormone production (hypogonadism)
- Increased reflexes and stiff muscles
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia 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)
- Expert care
- Expert lists: National Ataxia 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 National Ataxia Foundation
- 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 lists autosomal recessive inheritance, so a child inherits a changed copy of the gene from each parent. It does not name a gene.
Also known as: ketoaciduria-intellectual disability-ataxia-deafness syndrome; ketoaciduria-intellectual disability-ataxia-hearing loss syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
Broader rare-disease groups
- 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 Richards-Rundle syndrome.
Explore research for Richards-Rundle syndrome
Explore actively recruiting Richards-Rundle syndrome studies with HealthSpark.
Find actively recruiting studies for Richards-Rundle 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
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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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