Living with Atypical hypotonia-cystinuria syndrome
A rare inherited syndrome with low muscle tone, poor feeding, slow growth, kidney stones risk from cystinuria, and mild to moderate intellectual disability.
Understanding Atypical hypotonia-cystinuria syndrome
The classic form includes cystinuria type 1 (a condition in which cystine passes into the urine), generalized low muscle tone (hypotonia), poor feeding, slow growth, and minor facial differences. It is noticed in newborns and infants.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Low muscle tone (hypotonia)
- Cystine in the urine (cystinuria)
- Poor feeding
- Slow growth
- Mild to moderate intellectual disability
- Minor facial differences
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 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
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 Chromosome Disorder Outreach 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 says changes in genes (also called variants) cause this condition. It lists autosomal recessive and mitochondrial inheritance.
Also known as: atypical hcs; atypical hypotonia cystinuria syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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Perspectives from people navigating life with Atypical hypotonia-cystinuria syndrome.
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