Living with Troyer syndrome
A genetic condition (a type of hereditary spastic paraplegia) with slowly worsening leg stiffness and weakness from early childhood.
Understanding Troyer syndrome
Signs usually start in early childhood and slowly worsen. They include delays in learning to walk and talk, leg weakness and stiffness, wasting of the muscles in the hands and feet, and short stature. Speech difficulties, bone differences, and mood swings can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leg muscle stiffness and weakness (spasticity)
- Delays in walking and talking
- Trouble speaking clearly (dysarthria)
- Wasting of muscles in the hands and feet
- Short stature and slow growth
- Bone differences in the hands, feet, or spine
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 and genetic specialists.
- 3Consider genetic testing
Changes in SPART are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); Genetic specialists (geneticists)
- 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
- 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
This condition is caused by changes in the SPART gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive spastic paraplegia 20; autosomal recessive spastic paraplegia troyer type; autosomal recessive spastic paraplegia type 20; childhood-onset spastic paraparesis with distal muscle wasting; childhood-onset spastic paraparesis-distal muscle wasting syndrome; hereditary spastic paraplegia 20
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia · 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 Troyer syndrome.
Explore research for Troyer syndrome
Explore actively recruiting Troyer syndrome studies with HealthSpark.
Find actively recruiting studies for Troyer syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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