Living with Homocarnosinosis
A rare metabolic condition linked to stiff leg muscles, learning challenges, and vision changes in the retina.
Understanding Homocarnosinosis
It is described with progressive stiffness in the legs (spastic diplegia), intellectual disability, and retinitis pigmentosa, an eye condition affecting the retina. Some people have these signs even when an affected parent has no symptoms. So it is uncertain how the chemical change relates to the symptoms.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes:
- Stiff, tight leg muscles (spastic diplegia)
- Intellectual disability
- Retinitis pigmentosa (retina changes)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 lists autosomal recessive inheritance, though its summary says inheritance seems to be autosomal dominant. GARD doesn't name a gene.
Also known as: homocarnosinase deficiency
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 Homocarnosinosis.
Explore research for Homocarnosinosis
Explore actively recruiting Homocarnosinosis studies with HealthSpark.
Find actively recruiting studies for Homocarnosinosis 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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